We're building a better ClinicalTrials.gov. Check it out and tell us what you think!
Try the New Site
We're building a modernized ClinicalTrials.gov! Visit Beta.ClinicalTrials.gov to try the new functionality.
Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

An Open Label Phase 2 Extension Study of Higher Dose Sialic Acid-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With Glucosamine (UDP-N-acetyl)-2-Epimerase (GNE) Myopathy

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT01830972
Recruitment Status : Completed
First Posted : April 12, 2013
Results First Posted : March 13, 2018
Last Update Posted : April 11, 2018
Sponsor:
Information provided by (Responsible Party):
Ultragenyx Pharmaceutical Inc

Study Type Interventional
Study Design Allocation: Non-Randomized;   Intervention Model: Crossover Assignment;   Masking: None (Open Label);   Primary Purpose: Treatment
Conditions GNE Myopathy
Hereditary Inclusion Body Myopathy (HIBM)
Interventions Drug: SA-ER 500 mg
Drug: SA-IR 500 mg
Enrollment 59
Recruitment Details Participants completing study UX001-CL201 (NCT01517880) were eligible to continue treatment under this protocol. Additional participants with glucosamine (UDP-N-acetyl)-2-epimerase (GNE) myopathy were enrolled to assess Sialic Acid Extended Release/Sialic Acid Immediate Release (SA-ER/SA-IR) in a treatment naïve population.
Pre-assignment Details A total of 46 crossover participants started the study in Part 1, with an additional 13 naive participants starting the study in Part 2.
Arm/Group Title Crossover Participants Naïve Participants
Hide Arm/Group Description

Participants completing the 48-week study (UX001-CL201) were enrolled into Part I of the study:

  • Part I: participants continued on 6 g/day SA-ER for approximately 6 months
  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment 4 times per day [QID]) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)

Treatment naïve participants with GNE myopathy were enrolled into Part II of the study:

  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment QID) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)
Period Title: Part I
Started 46 0 [1]
Completed 46 0 [1]
Not Completed 0 0
[1]
Not applicable; participants in this arm entered during Part 2.
Period Title: Part II
Started 46 13 [1]
Completed 44 11
Not Completed 2 2
Reason Not Completed
Withdrawal by Subject             2             2
[1]
Entered study at Part 2
Period Title: Part III
Started 44 [1] 11
Completed 42 11
Not Completed 2 0
Reason Not Completed
Withdrawal by Subject             1             0
Noncompliance             1             0
[1]
2 participants withdrew consent and did not enter Part 3
Period Title: Part IV
Started 42 11
Completed 39 10
Not Completed 3 1
Reason Not Completed
Withdrawal by Subject             2             1
Non-Compliance             1             0
Arm/Group Title Crossover Participants Naïve Participants Total
Hide Arm/Group Description

Participants completing the 48-week study (UX001-CL201) were enrolled into Part I of the study:

  • Part I: participants continued on 6 g/day SA-ER for approximately 6 months
  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment 4 times per day [QID]) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)

Treatment naïve participants with GNE myopathy were enrolled into Part II of the study:

  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment QID) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)
 Total of all reporting groups
Overall Number of Baseline Participants 46 13 59
Hide Baseline Analysis Population Description
Baseline at the start of Part II (upon study entry for Naïve Participants) is presented.
Age, Continuous  
Mean (Standard Deviation)
Unit of measure:  Years
Number Analyzed 46 participants 13 participants 59 participants
41.1  (10.55) 35.6  (10.97) 39.9  (10.79)
Sex: Female, Male  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 46 participants 13 participants 59 participants
Female
29
  63.0%
8
  61.5%
37
  62.7%
Male
17
  37.0%
5
  38.5%
22
  37.3%
Race/Ethnicity, Customized  
Measure Type: Count of Participants
Unit of measure:  Participants
 Number Analyzed 46 participants 13 participants 59 participants
White
38
  82.6%
13
 100.0%
51
  86.4%
Asian
8
  17.4%
0
   0.0%
8
  13.6%
Race/Ethnicity, Customized  
Measure Type: Count of Participants
Unit of measure:  Participants
 Number Analyzed 46 participants 13 participants 59 participants
Not Hispanic/Latino
44
  95.7%
13
 100.0%
57
  96.6%
Hispanic/Latino
2
   4.3%
0
   0.0%
2
   3.4%
1.Primary Outcome
Title Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to Discontinuation
Hide Description An adverse event (AE) is defined as any untoward medical occurrence, whether or not considered drug related. A serious AE (SAE) is an AE that at any dose results in any of the following: death, a life-threatening AE; inpatient hospitalization or prolongation of existing hospitalization; persistent or significant incapacity or substantial disruption of the ability to conduct normal life functions; a congenital anomaly/birth defect. TEAEs include all adverse events that start on or after the first dose of study medication, or adverse events that are present prior to the first dose of study medication, but their severity or relationship increases after the first dose of study medication up to and including 30 days after the final study medication dosing date. TEAEs were graded as mild (grade 1), moderate (grade 2), severe (grade 3), life-threatening (grade 4), or death (grade 5). TEAE relationship to study medication was classified as not related, possibly related, or probably related.
Time Frame From first dose of study drug until up to 30 days after the last dose of study drug. Mean (SD) duration of treatment was 1170.0 (170.2) days for Crossover Participants and 897 (380) days for Naïve Participants
Hide Outcome Measure Data
Hide Analysis Population Description
All participants who received at least one dose of study drug.
Arm/Group Title Crossover Participants; 6 g/Day Crossover Participants: 12 g/Day Crossover Participants: Any Dose Naïve Participants: 6 g/Day Naïve Participants: 12 g/Day Overall: Any Dose
Hide Arm/Group Description:

Participants completing the 48-week study (UX001-CL201) were enrolled into Part I of the study:

  • Part I: participants continued on 6 g/day SA-ER for approximately 6 months
  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment 4 times per day [QID]) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)

Participants completing the 48-week study (UX001-CL201) were enrolled into Part I of the study:

  • Part I: participants continued on 6 g/day SA-ER for approximately 6 months
  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment 4 times per day [QID]) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)

Participants completing the 48-week study (UX001-CL201) were enrolled into Part I of the study:

  • Part I: participants continued on 6 g/day SA-ER for approximately 6 months
  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment 4 times per day [QID]) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)

Treatment naïve participants with GNE myopathy were enrolled into Part II of the study:

  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment QID) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)

Treatment naïve participants with GNE myopathy were enrolled into Part II of the study:

  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment QID) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)

Participants completing the 48-week study (UX001-CL201) were enrolled into Part I of the study and treatment naïve participants with GNE myopathy were enrolled into Part II of the study:

  • Part I: participants continued on 6 g/day SA-ER for approximately 6 months
  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment 4 times per day [QID]) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)
Overall Number of Participants Analyzed 46 46 46 1 13 59
Measure Type: Count of Participants
Unit of Measure: Participants
>/= 1 TEAE
43
  93.5%
46
 100.0%
46
 100.0%
1
 100.0%
13
 100.0%
59
 100.0%
TEAE Maximum Severity = Grade 1
19
  41.3%
23
  50.0%
15
  32.6%
0
   0.0%
5
  38.5%
20
  33.9%
TEAE Maximum Severity = Grade 2
22
  47.8%
23
  50.0%
29
  63.0%
1
 100.0%
7
  53.8%
36
  61.0%
TEAE Maximum Severity = Grade 3
2
   4.3%
0
   0.0%
2
   4.3%
0
   0.0%
1
   7.7%
3
   5.1%
TEAE Maximum Severity = Grade 4
0
   0.0%
0
   0.0%
0
   0.0%
0
   0.0%
0
   0.0%
0
   0.0%
TEAE Maximum Severity = Grade 5
0
   0.0%
0
   0.0%
0
   0.0%
0
   0.0%
0
   0.0%
0
   0.0%
Treatment Related TEAEs
26
  56.5%
40
  87.0%
45
  97.8%
1
 100.0%
11
  84.6%
56
  94.9%
Serious TEAEs
2
   4.3%
0
   0.0%
2
   4.3%
0
   0.0%
1
   7.7%
3
   5.1%
TEAEs Causing Discontinuation
0
   0.0%
0
   0.0%
0
   0.0%
0
   0.0%
0
   0.0%
0
   0.0%
2.Primary Outcome
Title Clinically Significant Changes From Baseline in Vital Signs, Physical and Neurological Examination Findings and Laboratory Evaluations
Hide Description [Not Specified]
Time Frame From first dose of study drug until up to 30 days after the last dose of study drug. Mean (SD) duration of treatment was 1170.0 (170.2) days for Crossover Participants and 897 (380) days for Naïve Participants
Hide Outcome Measure Data
Hide Analysis Population Description
Clinically significant changes from Baseline for vital signs, physical and neurological examination findings and laboratory evaluations were recorded as AEs and are reported as part of the Safety section of this record and Outcome Measure 1.
Arm/Group Title Crossover Participants Naïve Participants
Hide Arm/Group Description:

Participants completing the 48-week study (UX001-CL201) were enrolled into Part I of the study:

  • Part I: participants continued on 6 g/day SA-ER for approximately 6 months
  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment 4 times per day [QID]) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)

Treatment naïve participants with GNE myopathy were enrolled into Part II of the study:

  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment QID) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)
Overall Number of Participants Analyzed 0 0
No data displayed because Outcome Measure has zero total analyzed.
3.Primary Outcome
Title Interval History: Has the Participant Experienced Any New Conditions or Exacerbations of an Existing Condition Since Last Study Visit?
Hide Description Each interval history was intended to record any signs, symptoms, or events (e.g., falls, changes in medications or therapies) experienced by the participant since the prior study visit that were not related to study procedure(s) performed at prior study visits or study drug. Interval history may have included exacerbation or improvement in existing medical conditions (including the clinical manifestations of GNE myopathy) that might have interfered with study participation, safety, and/or positively or negatively impact performance of functional assessments.
Time Frame Part I: Baseline (Study UX001-CL201 Week 48), Month 6; Part II-IV: Baseline, Months 1, 3, 6, 9, 12, 15, 18, 21, 24, 27, 33, 36, study termination
Hide Outcome Measure Data
Hide Analysis Population Description
All participants who received at least one dose of study drug. Participant "n" at each time point includes those with a yes or no response. Naïve Participants did not enter the study until Part II.
Arm/Group Title Crossover Participants Naïve Participants
Hide Arm/Group Description:

Participants completing the 48-week study (UX001-CL201) were enrolled into Part I of the study:

  • Part I: participants continued on 6 g/day SA-ER for approximately 6 months
  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment 4 times per day [QID]) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)

Treatment naïve participants with GNE myopathy were enrolled into Part II of the study:

  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment QID) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)
Overall Number of Participants Analyzed 46 13
Measure Type: Count of Participants
Unit of Measure: Participants
Part I Baseline (Study UX001-CL201 Week 48): Yes Number Analyzed 46 participants 0 participants
29
Part I Baseline (Study UX001-CL201 Week 48): No Number Analyzed 46 participants 0 participants
17
Part I Month 6: Yes Number Analyzed 6 participants 0 participants
6
Part I Month 6: No Number Analyzed 6 participants 0 participants
0
Part II-IV Baseline: Yes Number Analyzed 46 participants 1 participants
28 0
Part II-IV Baseline: No Number Analyzed 46 participants 1 participants
18 1
Part II-IV Month 1: Yes Number Analyzed 46 participants 13 participants
36 12
Part II-IV Month 1: No Number Analyzed 46 participants 13 participants
10 1
Part II-IV Month 3: Yes Number Analyzed 0 participants 1 participants
0 1
Part II-IV Month 3: No Number Analyzed 0 participants 1 participants
0 0
Part II-IV Month 6: Yes Number Analyzed 46 participants 11 participants
27 7
Part II-IV Month 6: No Number Analyzed 46 participants 11 participants
19 4
Part II-IV Month 9: Yes Number Analyzed 0 participants 1 participants
0 1
Part II-IV Month 9: No Number Analyzed 0 participants 1 participants
0 0
Part II-IV Month 12: Yes Number Analyzed 46 participants 10 participants
29 6
Part II-IV Month 12: No Number Analyzed 46 participants 10 participants
17 4
Part II-IV Month 15: Yes Number Analyzed 5 participants 8 participants
4 5
Part II-IV Month 15: No Number Analyzed 5 participants 8 participants
1 3
Part II-IV Month 18: Yes Number Analyzed 39 participants 3 participants
18 3
Part II-IV Month 18: No Number Analyzed 39 participants 3 participants
21 0
Part II-IV Month 21: Yes Number Analyzed 30 participants 11 participants
18 8
Part II-IV Month 21: No Number Analyzed 30 participants 11 participants
12 3
Part II-IV Month 24: Yes Number Analyzed 14 participants 0 participants
12 0
Part II-IV Month 24: No Number Analyzed 14 participants 0 participants
2 0
Part II-IV Month 27: Yes Number Analyzed 42 participants 10 participants
21 5
Part II-IV Month 27: No Number Analyzed 42 participants 10 participants
21 5
Part II-IV Month 33: Yes Number Analyzed 16 participants 3 participants
11 2
Part II-IV Month 33: No Number Analyzed 16 participants 3 participants
5 1
Part II-IV Month 36: Yes Number Analyzed 23 participants 7 participants
10 6
Part II-IV Month 36: No Number Analyzed 23 participants 7 participants
13 1
Part II-IV Termination: Yes Number Analyzed 1 participants 0 participants
0 0
Part II-IV Termination: No Number Analyzed 1 participants 0 participants
1 0
4.Primary Outcome
Title Interval History: Has the Participant Started Taking Any New Medications or Discontinued Any Medications Since the Study Visit?
Hide Description Each interval history was intended to record any signs, symptoms, or events (e.g., falls, changes in medications or therapies) experienced by the participant since the prior study visit that were not related to study procedure(s) performed at prior study visits or study drug. Interval history may have included exacerbation or improvement in existing medical conditions (including the clinical manifestations of GNE myopathy) that might have interfered with study participation, safety, and/or positively or negatively impact performance of functional assessments.
Time Frame Part I: Baseline (Study UX001-CL201 Week 48), Month 6; Part II-IV: Baseline, Months 1, 3, 6, 9, 12, 15, 18, 21, 24, 27, 33, 36, study termination
Hide Outcome Measure Data
Hide Analysis Population Description
All participants who received at least one dose of study drug. Participant "n" at each time point includes those with a yes or no response. Naïve Participants did not enter the study until Part II.
Arm/Group Title Crossover Participants Naïve Participants
Hide Arm/Group Description:

Participants completing the 48-week study (UX001-CL201) were enrolled into Part I of the study:

  • Part I: participants continued on 6 g/day SA-ER for approximately 6 months
  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment 4 times per day [QID]) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)

Treatment naïve participants with GNE myopathy were enrolled into Part II of the study:

  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment QID) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)
Overall Number of Participants Analyzed 46 13
Measure Type: Count of Participants
Unit of Measure: Participants
Part I Baseline (Study UX001-CL201 Week 48): Yes Number Analyzed 46 participants 0 participants
21
Part I Baseline (Study UX001-CL201 Week 48): No Number Analyzed 46 participants 0 participants
25
Part I Month 6: Yes Number Analyzed 6 participants 0 participants
4
Part I Month 6: No Number Analyzed 6 participants 0 participants
2
Part II-IV Baseline: Yes Number Analyzed 46 participants 1 participants
23 0
Part II-IV Baseline: No Number Analyzed 46 participants 1 participants
23 1
Part II-IV Month 1: Yes Number Analyzed 46 participants 13 participants
15 4
Part II-IV Month 1: No Number Analyzed 46 participants 13 participants
31 9
Part II-IV Month 3: Yes Number Analyzed 0 participants 1 participants
0 1
Part II-IV Month 3: No Number Analyzed 0 participants 1 participants
0 0
Part II-IV Month 6: Yes Number Analyzed 46 participants 11 participants
24 7
Part II-IV Month 6: No Number Analyzed 46 participants 11 participants
22 4
Part II-IV Month 9: Yes Number Analyzed 0 participants 1 participants
0 1
Part II-IV Month 9: No Number Analyzed 0 participants 1 participants
0 0
Part II-IV Month 12: Yes Number Analyzed 46 participants 10 participants
27 5
Part II-IV Month 12: No Number Analyzed 46 participants 10 participants
19 5
Part II-IV Month 15: Yes Number Analyzed 5 participants 8 participants
4 3
Part II-IV Month 15: No Number Analyzed 5 participants 8 participants
1 5
Part II-IV Month 18: Yes Number Analyzed 39 participants 3 participants
17 2
Part II-IV Month 18: No Number Analyzed 39 participants 3 participants
22 1
Part II-IV Month 21: Yes Number Analyzed 30 participants 11 participants
19 7
Part II-IV Month 21: No Number Analyzed 30 participants 11 participants
11 4
Part II-IV Month 24: Yes Number Analyzed 14 participants 0 participants
10 0
Part II-IV Month 24: No Number Analyzed 14 participants 0 participants
4 0
Part II-IV Month 27: Yes Number Analyzed 42 participants 10 participants
19 6
Part II-IV Month 27: No Number Analyzed 42 participants 10 participants
23 4
Part II-IV Month 33: Yes Number Analyzed 16 participants 3 participants
12 2
Part II-IV Month 33: No Number Analyzed 16 participants 3 participants
4 1
Part II-IV Month 36: Yes Number Analyzed 23 participants 7 participants
12 5
Part II-IV Month 36: No Number Analyzed 23 participants 7 participants
11 2
Part II-IV Termination: Yes Number Analyzed 1 participants 0 participants
0 0
Part II-IV Termination: No Number Analyzed 1 participants 0 participants
1 0
5.Primary Outcome
Title Interval History: Has the Participant Started Receiving Any New Therapy or Discontinued Any Therapies Since Last Study Visit?
Hide Description Each interval history was intended to record any signs, symptoms, or events (e.g., falls, changes in medications or therapies) experienced by the participant since the prior study visit that were not related to study procedure(s) performed at prior study visits or study drug. Interval history may have included exacerbation or improvement in existing medical conditions (including the clinical manifestations of GNE myopathy) that might have interfered with study participation, safety, and/or positively or negatively impact performance of functional assessments.
Time Frame Part I: Baseline (Study UX001-CL201 Week 48), Month 6; Part II-IV: Baseline, Months 1, 3, 6, 9, 12, 15, 18, 21, 24, 27, 33, 36, study termination
Hide Outcome Measure Data
Hide Analysis Population Description
All participants who received at least one dose of study drug. Participant "n" at each time point includes those with a yes or no response. Naïve Participants did not enter the study until Part II.
Arm/Group Title Crossover Participants Naïve Participants
Hide Arm/Group Description:

Participants completing the 48-week study (UX001-CL201) were enrolled into Part I of the study:

  • Part I: participants continued on 6 g/day SA-ER for approximately 6 months
  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment 4 times per day [QID]) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)

Treatment naïve participants with GNE myopathy were enrolled into Part II of the study:

  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment QID) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)
Overall Number of Participants Analyzed 46 13
Measure Type: Count of Participants
Unit of Measure: Participants
Part I Baseline (Study UX001-CL201 Week 48): Yes Number Analyzed 46 participants 0 participants
5
Part I Baseline (Study UX001-CL201 Week 48): No Number Analyzed 46 participants 0 participants
41
Part I Month 6: Yes Number Analyzed 6 participants 0 participants
3
Part I Month 6: No Number Analyzed 6 participants 0 participants
3
Part II-IV Baseline: Yes Number Analyzed 46 participants 1 participants
9 0
Part II-IV Baseline: No Number Analyzed 46 participants 1 participants
37 1
Part II-IV Month 1: Yes Number Analyzed 46 participants 13 participants
4 0
Part II-IV Month 1: No Number Analyzed 46 participants 13 participants
42 13
Part II-IV Month 3: Yes Number Analyzed 0 participants 1 participants
0 0
Part II-IV Month 3: No Number Analyzed 0 participants 1 participants
0 1
Part II-IV Month 6: Yes Number Analyzed 46 participants 11 participants
9 4
Part II-IV Month 6: No Number Analyzed 46 participants 11 participants
37 7
Part II-IV Month 9: Yes Number Analyzed 0 participants 1 participants
0 0
Part II-IV Month 9: No Number Analyzed 0 participants 1 participants
0 1
Part II-IV Month 12: Yes Number Analyzed 46 participants 10 participants
5 2
Part II-IV Month 12: No Number Analyzed 46 participants 10 participants
41 8
Part II-IV Month 15: Yes Number Analyzed 5 participants 8 participants
0 0
Part II-IV Month 15: No Number Analyzed 5 participants 8 participants
5 8
Part II-IV Month 18: Yes Number Analyzed 39 participants 3 participants
4 0
Part II-IV Month 18: No Number Analyzed 39 participants 3 participants
35 3
Part II-IV Month 21: Yes Number Analyzed 30 participants 11 participants
3 0
Part II-IV Month 21: No Number Analyzed 30 participants 11 participants
27 11
Part II-IV Month 24: Yes Number Analyzed 14 participants 0 participants
2 0
Part II-IV Month 24: No Number Analyzed 14 participants 0 participants
12 0
Part II-IV Month 27: Yes Number Analyzed 42 participants 10 participants
4 1
Part II-IV Month 27: No Number Analyzed 42 participants 10 participants
38 9
Part II-IV Month 33: Yes Number Analyzed 16 participants 3 participants
3 0
Part II-IV Month 33: No Number Analyzed 16 participants 3 participants
13 3
Part II-IV Month 36: Yes Number Analyzed 23 participants 7 participants
3 3
Part II-IV Month 36: No Number Analyzed 23 participants 7 participants
20 4
Part II-IV Termination: Yes Number Analyzed 1 participants 0 participants
0 0
Part II-IV Termination: No Number Analyzed 1 participants 0 participants
1 0
6.Primary Outcome
Title Interval History: Typical Number of Falls Per Year
Hide Description Each interval history was intended to record any signs, symptoms, or events (e.g., falls, changes in medications or therapies) experienced by the participant since the prior study visit that were not related to study procedure(s) performed at prior study visits or study drug. Interval history may have included exacerbation or improvement in existing medical conditions (including the clinical manifestations of GNE myopathy) that might have interfered with study participation, safety, and/or positively or negatively impact performance of functional assessments.
Time Frame Part I: Baseline (Study UX001-CL201 Week 48), Month 6; Part II-IV: Baseline, Months 1, 6, 12, 18, 24, 30, 36, study termination
Hide Outcome Measure Data
Hide Analysis Population Description
All participants who received at least one dose of study drug. Naïve Participants did not enter the study until Part II.
Arm/Group Title Crossover Participants Naïve Participants
Hide Arm/Group Description:

Participants completing the 48-week study (UX001-CL201) were enrolled into Part I of the study:

  • Part I: participants continued on 6 g/day SA-ER for approximately 6 months
  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment 4 times per day [QID]) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)

Treatment naïve participants with GNE myopathy were enrolled into Part II of the study:

  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment QID) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)
Overall Number of Participants Analyzed 46 13
Mean (Standard Deviation)
Unit of Measure: falls
Part I Baseline (Study UX001-CL201 Week 48) Number Analyzed 46 participants 0 participants
11.0  (53.63)
Part I Month 6 Number Analyzed 6 participants 0 participants
3.8  (3.54)
Part II-IV Baseline Number Analyzed 46 participants 13 participants
14.1  (53.66) 6.0  (6.19)
Part II-IV Month 1 Number Analyzed 46 participants 12 participants
6.8  (9.60) 7.3  (6.31)
Part II-IV Month 6 Number Analyzed 46 participants 11 participants
8.0  (11.87) 5.6  (6.39)
Part II-IV Month 12 Number Analyzed 46 participants 11 participants
5.4  (8.94) 5.1  (3.51)
Part II-IV Month 18 Number Analyzed 44 participants 11 participants
7.8  (14.58) 6.0  (4.15)
Part II-IV Month 24 Number Analyzed 43 participants 11 participants
9.4  (28.23) 4.5  (3.05)
Part II-IV Month 30 Number Analyzed 41 participants 11 participants
6.2  (10.03) 5.0  (6.56)
Part II-IV Month 36 Number Analyzed 39 participants 10 participants
5.4  (9.03) 7.6  (10.88)
Part II-IV Termination Number Analyzed 1 participants 1 participants
4.0 [1]   (NA) 12.0 [1]   (NA)
[1]
SD is not applicable for 1 participant.
Time Frame From first dose of study drug until up to 30 days after the last dose of study drug. Mean (SD) duration of treatment was 1170.0 (170.2) days for Crossover Participants and 897 (380) days for Naive Participants.
Adverse Event Reporting Description TEAEs are presented. TEAEs include all adverse events that start on or after the first dose of study medication, or adverse events that are present prior to the first dose of study medication, but their severity or relationship increases after the first dose of study medication up to and including 30 days after the final study medication dosing date.
 
Arm/Group Title Crossover Participants; 6 g/Day Crossover Participants: 12 g/Day Crossover Participants: Any Dose Naïve Participants: 6 g/Day Naïve Participants: 12 g/Day Overall: Any Dose
Hide Arm/Group Description

Participants completing the 48-week study (UX001-CL201) were enrolled into Part I of the study:

  • Part I: participants continued on 6 g/day SA-ER for approximately 6 months
  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment QID) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)

Participants completing the 48-week study (UX001-CL201) were enrolled into Part I of the study:

  • Part I: participants continued on 6 g/day SA-ER for approximately 6 months
  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment QID) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)

Participants completing the 48-week study (UX001-CL201) were enrolled into Part I of the study:

  • Part I: participants continued on 6 g/day SA-ER for approximately 6 months
  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment QID) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)

Treatment naïve participants with GNE myopathy were enrolled into Part II of the study:

  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment QID) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)

Treatment naïve participants with GNE myopathy were enrolled into Part II of the study:

  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment QID) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)

Participants completing the 48-week study (UX001-CL201) were enrolled into Part I of the study and treatment naïve participants with GNE myopathy were enrolled into Part II of the study:

  • Part I: participants continued on 6 g/day SA-ER for approximately 6 months
  • Part II: 12 g/day SA (1.5 g of SA-ER and 1.5 g of SA-IR treatment QID) for 36 months
  • Part III: 6 g/day or 12 g/day SA (both SA-ER and SA-IR)
  • Part IV: 6 g/day or 12 g/day SA (SA-ER only)
All-Cause Mortality
Crossover Participants; 6 g/Day Crossover Participants: 12 g/Day Crossover Participants: Any Dose Naïve Participants: 6 g/Day Naïve Participants: 12 g/Day Overall: Any Dose
Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%)
Total   0/46 (0.00%)   0/46 (0.00%)   0/46 (0.00%)   0/1 (0.00%)   0/13 (0.00%)   0/59 (0.00%) 
Hide Serious Adverse Events
Crossover Participants; 6 g/Day Crossover Participants: 12 g/Day Crossover Participants: Any Dose Naïve Participants: 6 g/Day Naïve Participants: 12 g/Day Overall: Any Dose
Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%)
Total   2/46 (4.35%)   0/46 (0.00%)   2/46 (4.35%)   0/1 (0.00%)   1/13 (7.69%)   3/59 (5.08%) 
General disorders             
Chest pain † 1 [1]  1/46 (2.17%)  0/46 (0.00%)  1/46 (2.17%)  0/1 (0.00%)  0/13 (0.00%)  1/59 (1.69%) 
Injury, poisoning and procedural complications             
Femur fracture † 1 [1]  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Nervous system disorders             
Quadriparesis † 1 [1]  1/46 (2.17%)  0/46 (0.00%)  1/46 (2.17%)  0/1 (0.00%)  0/13 (0.00%)  1/59 (1.69%) 
Vascular disorders             
Deep vein thrombosis † 1 [1]  1/46 (2.17%)  0/46 (0.00%)  1/46 (2.17%)  0/1 (0.00%)  0/13 (0.00%)  1/59 (1.69%) 
1
Term from vocabulary, MedDRA 17.1
†
Indicates events were collected by systematic assessment
[1]
SAE was unrelated to UX001 treatment.
Hide Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events 5%
Crossover Participants; 6 g/Day Crossover Participants: 12 g/Day Crossover Participants: Any Dose Naïve Participants: 6 g/Day Naïve Participants: 12 g/Day Overall: Any Dose
Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%) Affected / at Risk (%)
Total   42/46 (91.30%)   44/46 (95.65%)   46/46 (100.00%)   1/1 (100.00%)   13/13 (100.00%)   59/59 (100.00%) 
Blood and lymphatic system disorders             
Anaemia † 1  1/46 (2.17%)  2/46 (4.35%)  3/46 (6.52%)  0/1 (0.00%)  0/13 (0.00%)  3/59 (5.08%) 
Lymphadenopathy † 1  0/46 (0.00%)  1/46 (2.17%)  1/46 (2.17%)  0/1 (0.00%)  1/13 (7.69%)  2/59 (3.39%) 
Cardiac disorders             
Angina pectoris † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Ear and labyrinth disorders             
Deafness † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Ear pain † 1  1/46 (2.17%)  2/46 (4.35%)  3/46 (6.52%)  0/1 (0.00%)  3/13 (23.08%)  6/59 (10.17%) 
Eustachian tube obstruction † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Endocrine disorders             
Goitre † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Eye disorders             
Conjunctival haemorrhage † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Conjunctivitis allergic † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Eye swelling † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Ocular hyperaemia † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Visual impairment † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Gastrointestinal disorders             
Abdominal discomfort † 1  2/46 (4.35%)  2/46 (4.35%)  4/46 (8.70%)  0/1 (0.00%)  1/13 (7.69%)  5/59 (8.47%) 
Abdominal distension † 1  3/46 (6.52%)  3/46 (6.52%)  5/46 (10.87%)  0/1 (0.00%)  1/13 (7.69%)  6/59 (10.17%) 
Abdominal pain † 1  2/46 (4.35%)  4/46 (8.70%)  6/46 (13.04%)  0/1 (0.00%)  2/13 (15.38%)  8/59 (13.56%) 
Abdominal pain upper † 1  0/46 (0.00%)  2/46 (4.35%)  2/46 (4.35%)  0/1 (0.00%)  1/13 (7.69%)  3/59 (5.08%) 
Constipation † 1  1/46 (2.17%)  1/46 (2.17%)  2/46 (4.35%)  0/1 (0.00%)  2/13 (15.38%)  4/59 (6.78%) 
Dental caries † 1  2/46 (4.35%)  1/46 (2.17%)  2/46 (4.35%)  0/1 (0.00%)  1/13 (7.69%)  3/59 (5.08%) 
Diarrhoea † 1  6/46 (13.04%)  11/46 (23.91%)  13/46 (28.26%)  1/1 (100.00%)  5/13 (38.46%)  18/59 (30.51%) 
Dyspepsia † 1  3/46 (6.52%)  13/46 (28.26%)  14/46 (30.43%)  0/1 (0.00%)  3/13 (23.08%)  17/59 (28.81%) 
Faeces soft † 1  0/46 (0.00%)  1/46 (2.17%)  1/46 (2.17%)  0/1 (0.00%)  1/13 (7.69%)  2/59 (3.39%) 
Flatulence † 1  8/46 (17.39%)  24/46 (52.17%)  27/46 (58.70%)  0/1 (0.00%)  11/13 (84.62%)  38/59 (64.41%) 
Gastritis † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Gastrooesophageal reflux disease † 1  1/46 (2.17%)  2/46 (4.35%)  2/46 (4.35%)  0/1 (0.00%)  2/13 (15.38%)  4/59 (6.78%) 
Nausea † 1  1/46 (2.17%)  8/46 (17.39%)  8/46 (17.39%)  0/1 (0.00%)  1/13 (7.69%)  9/59 (15.25%) 
Toothache † 1  1/46 (2.17%)  2/46 (4.35%)  3/46 (6.52%)  0/1 (0.00%)  2/13 (15.38%)  5/59 (8.47%) 
Vomiting † 1  3/46 (6.52%)  4/46 (8.70%)  6/46 (13.04%)  0/1 (0.00%)  1/13 (7.69%)  7/59 (11.86%) 
General disorders             
Asthenia † 1  2/46 (4.35%)  2/46 (4.35%)  3/46 (6.52%)  0/1 (0.00%)  0/13 (0.00%)  3/59 (5.08%) 
Chest discomfort † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Fatigue † 1  3/46 (6.52%)  4/46 (8.70%)  7/46 (15.22%)  1/1 (100.00%)  3/13 (23.08%)  11/59 (18.64%) 
Influenza like illness † 1  9/46 (19.57%)  13/46 (28.26%)  17/46 (36.96%)  0/1 (0.00%)  6/13 (46.15%)  23/59 (38.98%) 
Malaise † 1  0/46 (0.00%)  1/46 (2.17%)  1/46 (2.17%)  0/1 (0.00%)  1/13 (7.69%)  2/59 (3.39%) 
Non-cardiac chest pain † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Oedema peripheral † 1  2/46 (4.35%)  1/46 (2.17%)  3/46 (6.52%)  0/1 (0.00%)  0/13 (0.00%)  3/59 (5.08%) 
Pain † 1  1/46 (2.17%)  6/46 (13.04%)  7/46 (15.22%)  0/1 (0.00%)  0/13 (0.00%)  7/59 (11.86%) 
Peripheral swelling † 1  2/46 (4.35%)  3/46 (6.52%)  5/46 (10.87%)  1/1 (100.00%)  1/13 (7.69%)  6/59 (10.17%) 
Product taste abnormal † 1  3/46 (6.52%)  0/46 (0.00%)  3/46 (6.52%)  0/1 (0.00%)  0/13 (0.00%)  3/59 (5.08%) 
Pyrexia † 1  2/46 (4.35%)  6/46 (13.04%)  8/46 (17.39%)  0/1 (0.00%)  1/13 (7.69%)  9/59 (15.25%) 
Vessel puncture site bruise † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Hepatobiliary disorders             
Hepatic function abnormal † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  1/1 (100.00%)  0/13 (0.00%)  1/59 (1.69%) 
Infections and infestations             
Acute tonsillitis † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Bronchitis † 1  0/46 (0.00%)  1/46 (2.17%)  1/46 (2.17%)  0/1 (0.00%)  2/13 (15.38%)  3/59 (5.08%) 
Ear infection † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Fungal infection † 1  0/46 (0.00%)  1/46 (2.17%)  1/46 (2.17%)  0/1 (0.00%)  1/13 (7.69%)  2/59 (3.39%) 
Gingivitis † 1  1/46 (2.17%)  2/46 (4.35%)  2/46 (4.35%)  0/1 (0.00%)  1/13 (7.69%)  3/59 (5.08%) 
Influenza † 1  1/46 (2.17%)  2/46 (4.35%)  2/46 (4.35%)  0/1 (0.00%)  3/13 (23.08%)  5/59 (8.47%) 
Nasopharyngitis † 1  3/46 (6.52%)  4/46 (8.70%)  5/46 (10.87%)  0/1 (0.00%)  3/13 (23.08%)  8/59 (13.56%) 
Onychomycosis † 1  1/46 (2.17%)  1/46 (2.17%)  2/46 (4.35%)  0/1 (0.00%)  1/13 (7.69%)  3/59 (5.08%) 
Pelvic inflammatory disease † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Pharyngitis † 1  3/46 (6.52%)  3/46 (6.52%)  6/46 (13.04%)  0/1 (0.00%)  2/13 (15.38%)  8/59 (13.56%) 
Pharyngitis streptococcal † 1  0/46 (0.00%)  1/46 (2.17%)  1/46 (2.17%)  0/1 (0.00%)  1/13 (7.69%)  2/59 (3.39%) 
Pneumonia † 1  1/46 (2.17%)  1/46 (2.17%)  2/46 (4.35%)  0/1 (0.00%)  2/13 (15.38%)  4/59 (6.78%) 
Sinusitis † 1  3/46 (6.52%)  4/46 (8.70%)  6/46 (13.04%)  0/1 (0.00%)  1/13 (7.69%)  7/59 (11.86%) 
Tinea pedis † 1  1/46 (2.17%)  1/46 (2.17%)  1/46 (2.17%)  0/1 (0.00%)  1/13 (7.69%)  2/59 (3.39%) 
Tonsillitis † 1  1/46 (2.17%)  0/46 (0.00%)  1/46 (2.17%)  0/1 (0.00%)  1/13 (7.69%)  2/59 (3.39%) 
Upper respiratory tract infection † 1  1/46 (2.17%)  3/46 (6.52%)  4/46 (8.70%)  1/1 (100.00%)  1/13 (7.69%)  6/59 (10.17%) 
Urinary tract infection † 1  1/46 (2.17%)  4/46 (8.70%)  5/46 (10.87%)  0/1 (0.00%)  0/13 (0.00%)  5/59 (8.47%) 
Injury, poisoning and procedural complications             
Arthropod sting † 1  0/46 (0.00%)  1/46 (2.17%)  1/46 (2.17%)  0/1 (0.00%)  1/13 (7.69%)  2/59 (3.39%) 
Contusion † 1  3/46 (6.52%)  8/46 (17.39%)  10/46 (21.74%)  0/1 (0.00%)  5/13 (38.46%)  15/59 (25.42%) 
Fall † 1  4/46 (8.70%)  5/46 (10.87%)  8/46 (17.39%)  0/1 (0.00%)  3/13 (23.08%)  11/59 (18.64%) 
Foot fracture † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  1/1 (100.00%)  0/13 (0.00%)  1/59 (1.69%) 
Joint injury † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Laceration † 1  1/46 (2.17%)  4/46 (8.70%)  5/46 (10.87%)  0/1 (0.00%)  2/13 (15.38%)  7/59 (11.86%) 
Ligament sprain † 1  0/46 (0.00%)  3/46 (6.52%)  3/46 (6.52%)  0/1 (0.00%)  0/13 (0.00%)  3/59 (5.08%) 
Procedural pain † 1  25/46 (54.35%)  0/46 (0.00%)  25/46 (54.35%)  0/1 (0.00%)  2/13 (15.38%)  27/59 (45.76%) 
Skin abrasion † 1  1/46 (2.17%)  3/46 (6.52%)  4/46 (8.70%)  0/1 (0.00%)  3/13 (23.08%)  7/59 (11.86%) 
Superficial injury of eye † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Investigations             
Blood triglycerides increased † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  2/13 (15.38%)  2/59 (3.39%) 
Lipase increased † 1  3/46 (6.52%)  0/46 (0.00%)  3/46 (6.52%)  0/1 (0.00%)  0/13 (0.00%)  3/59 (5.08%) 
Liver function test abnormal † 1  3/46 (6.52%)  0/46 (0.00%)  3/46 (6.52%)  0/1 (0.00%)  1/13 (7.69%)  4/59 (6.78%) 
Lymphocyte count increased † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Neutrophil count decreased † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Vitamin D decreased † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  1/1 (100.00%)  1/13 (7.69%)  2/59 (3.39%) 
Weight increased † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
White blood cell count decreased † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Metabolism and nutrition disorders             
Vitamin B12 deficiency † 1  1/46 (2.17%)  3/46 (6.52%)  4/46 (8.70%)  0/1 (0.00%)  0/13 (0.00%)  4/59 (6.78%) 
Vitamin D deficiency † 1  2/46 (4.35%)  3/46 (6.52%)  5/46 (10.87%)  0/1 (0.00%)  1/13 (7.69%)  6/59 (10.17%) 
Musculoskeletal and connective tissue disorders             
Arthralgia † 1  9/46 (19.57%)  10/46 (21.74%)  17/46 (36.96%)  0/1 (0.00%)  8/13 (61.54%)  25/59 (42.37%) 
Back pain † 1  9/46 (19.57%)  12/46 (26.09%)  17/46 (36.96%)  0/1 (0.00%)  3/13 (23.08%)  20/59 (33.90%) 
Joint swelling † 1  0/46 (0.00%)  3/46 (6.52%)  3/46 (6.52%)  0/1 (0.00%)  0/13 (0.00%)  3/59 (5.08%) 
Limb discomfort † 1  1/46 (2.17%)  2/46 (4.35%)  3/46 (6.52%)  0/1 (0.00%)  0/13 (0.00%)  3/59 (5.08%) 
Muscle spasms † 1  2/46 (4.35%)  4/46 (8.70%)  5/46 (10.87%)  0/1 (0.00%)  0/13 (0.00%)  5/59 (8.47%) 
Muscle tightness † 1  1/46 (2.17%)  0/46 (0.00%)  1/46 (2.17%)  0/1 (0.00%)  1/13 (7.69%)  2/59 (3.39%) 
Muscle twitching † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Muscular weakness † 1  5/46 (10.87%)  3/46 (6.52%)  8/46 (17.39%)  0/1 (0.00%)  1/13 (7.69%)  9/59 (15.25%) 
Musculoskeletal pain † 1  5/46 (10.87%)  10/46 (21.74%)  12/46 (26.09%)  0/1 (0.00%)  1/13 (7.69%)  13/59 (22.03%) 
Musculoskeletal stiffness † 1  0/46 (0.00%)  1/46 (2.17%)  1/46 (2.17%)  0/1 (0.00%)  2/13 (15.38%)  3/59 (5.08%) 
Myalgia † 1  3/46 (6.52%)  3/46 (6.52%)  5/46 (10.87%)  1/1 (100.00%)  3/13 (23.08%)  8/59 (13.56%) 
Neck pain † 1  6/46 (13.04%)  1/46 (2.17%)  7/46 (15.22%)  0/1 (0.00%)  2/13 (15.38%)  9/59 (15.25%) 
Pain in extremity † 1  7/46 (15.22%)  8/46 (17.39%)  13/46 (28.26%)  1/1 (100.00%)  7/13 (53.85%)  20/59 (33.90%) 
Tendonitis † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Neoplasms benign, malignant and unspecified (incl cysts and polyps)             
Melanocytic naevus † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Vulval neoplasm † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Nervous system disorders             
Decreased vibratory sense † 1  2/46 (4.35%)  2/46 (4.35%)  3/46 (6.52%)  0/1 (0.00%)  0/13 (0.00%)  3/59 (5.08%) 
Dizziness † 1  5/46 (10.87%)  8/46 (17.39%)  11/46 (23.91%)  0/1 (0.00%)  2/13 (15.38%)  13/59 (22.03%) 
Headache † 1  11/46 (23.91%)  16/46 (34.78%)  21/46 (45.65%)  0/1 (0.00%)  6/13 (46.15%)  27/59 (45.76%) 
Hyporeflexia † 1  1/46 (2.17%)  2/46 (4.35%)  3/46 (6.52%)  0/1 (0.00%)  1/13 (7.69%)  4/59 (6.78%) 
Migraine † 1  1/46 (2.17%)  1/46 (2.17%)  1/46 (2.17%)  0/1 (0.00%)  2/13 (15.38%)  3/59 (5.08%) 
Neuralgia † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Paraesthesia † 1  2/46 (4.35%)  2/46 (4.35%)  4/46 (8.70%)  0/1 (0.00%)  0/13 (0.00%)  4/59 (6.78%) 
Psychiatric disorders             
Adjustment disorder † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Anxiety † 1  3/46 (6.52%)  2/46 (4.35%)  5/46 (10.87%)  0/1 (0.00%)  2/13 (15.38%)  7/59 (11.86%) 
Depression † 1  1/46 (2.17%)  1/46 (2.17%)  2/46 (4.35%)  0/1 (0.00%)  1/13 (7.69%)  3/59 (5.08%) 
Insomnia † 1  3/46 (6.52%)  0/46 (0.00%)  3/46 (6.52%)  0/1 (0.00%)  1/13 (7.69%)  4/59 (6.78%) 
Reproductive system and breast disorders             
Dysmenorrhoea † 1  3/46 (6.52%)  1/46 (2.17%)  3/46 (6.52%)  0/1 (0.00%)  1/13 (7.69%)  4/59 (6.78%) 
Prostatitis † 1  1/46 (2.17%)  1/46 (2.17%)  1/46 (2.17%)  0/1 (0.00%)  1/13 (7.69%)  2/59 (3.39%) 
Vaginal haemorrhage † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Respiratory, thoracic and mediastinal disorders             
Cough † 1  7/46 (15.22%)  10/46 (21.74%)  15/46 (32.61%)  0/1 (0.00%)  1/13 (7.69%)  16/59 (27.12%) 
Dyspnoea † 1  0/46 (0.00%)  1/46 (2.17%)  1/46 (2.17%)  0/1 (0.00%)  1/13 (7.69%)  2/59 (3.39%) 
Nasal congestion † 1  3/46 (6.52%)  5/46 (10.87%)  7/46 (15.22%)  0/1 (0.00%)  2/13 (15.38%)  9/59 (15.25%) 
Oropharyngeal pain † 1  5/46 (10.87%)  6/46 (13.04%)  10/46 (21.74%)  0/1 (0.00%)  5/13 (38.46%)  15/59 (25.42%) 
Paranasal sinus discomfort † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Rhinitis allergic † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Rhinorrhoea † 1  3/46 (6.52%)  4/46 (8.70%)  7/46 (15.22%)  0/1 (0.00%)  0/13 (0.00%)  7/59 (11.86%) 
Sinus congestion † 1  1/46 (2.17%)  0/46 (0.00%)  1/46 (2.17%)  1/1 (100.00%)  1/13 (7.69%)  3/59 (5.08%) 
Tonsillar hypertrophy † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Wheezing † 1  1/46 (2.17%)  0/46 (0.00%)  1/46 (2.17%)  0/1 (0.00%)  1/13 (7.69%)  2/59 (3.39%) 
Skin and subcutaneous tissue disorders             
Acne † 1  4/46 (8.70%)  1/46 (2.17%)  5/46 (10.87%)  0/1 (0.00%)  0/13 (0.00%)  5/59 (8.47%) 
Alopecia † 1  1/46 (2.17%)  0/46 (0.00%)  1/46 (2.17%)  0/1 (0.00%)  1/13 (7.69%)  2/59 (3.39%) 
Dry skin † 1  1/46 (2.17%)  2/46 (4.35%)  3/46 (6.52%)  0/1 (0.00%)  0/13 (0.00%)  3/59 (5.08%) 
Ingrowing nail † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Rash † 1  3/46 (6.52%)  3/46 (6.52%)  6/46 (13.04%)  0/1 (0.00%)  1/13 (7.69%)  7/59 (11.86%) 
Scab † 1  0/46 (0.00%)  0/46 (0.00%)  0/46 (0.00%)  0/1 (0.00%)  1/13 (7.69%)  1/59 (1.69%) 
Surgical and medical procedures             
Tooth extraction † 1  1/46 (2.17%)  1/46 (2.17%)  2/46 (4.35%)  0/1 (0.00%)  1/13 (7.69%)  3/59 (5.08%) 
1
Term from vocabulary, MedDRA 17.1
†
Indicates events were collected by systematic assessment
[Not Specified]
Certain Agreements
Principal Investigators are NOT employed by the organization sponsoring the study.
There IS an agreement between Principal Investigators and the Sponsor (or its agents) that restricts the PI's rights to discuss or publish trial results after the trial is completed.
The only disclosure restriction on the PI is that the sponsor can review results communications prior to public release and can embargo communications regarding trial results for a period that is more than 60 days but less than or equal to 180 days from the time submitted to the sponsor for review. The sponsor cannot require changes to the communication and cannot extend the embargo.
Results Point of Contact
Layout table for Results Point of Contact information
Name/Title: Kim Mooney, Associate Director, Patient Advocacy Medical Services
Organization: Ultragenyx Pharmaceutical Inc
Phone: 408-981-3526
EMail: kmooney@ultragenyx.com
Layout table for additonal information
Responsible Party: Ultragenyx Pharmaceutical Inc
ClinicalTrials.gov Identifier: NCT01830972    
Other Study ID Numbers: UX001-CL202
First Submitted: April 10, 2013
First Posted: April 12, 2013
Results First Submitted: February 14, 2018
Results First Posted: March 13, 2018
Last Update Posted: April 11, 2018