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Pre-Symptomatic Study of Intravenous Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy (SMA) for Patients With Multiple Copies of SMN2 (SPR1NT)

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ClinicalTrials.gov Identifier: NCT03505099
Recruitment Status : Completed
First Posted : April 23, 2018
Results First Posted : January 11, 2022
Last Update Posted : January 11, 2022
Sponsor:
Collaborator:
PRA Health Sciences
Information provided by (Responsible Party):
Novartis ( Novartis Gene Therapies )

Study Type Interventional
Study Design Allocation: N/A;   Intervention Model: Single Group Assignment;   Masking: None (Open Label);   Primary Purpose: Treatment
Condition Spinal Muscular Atrophy
Intervention Biological: onasemnogene abeparvovec-xioi
Enrollment 30
Recruitment Details A total of 30 participants took part in the trial at 16 sites in the United States, the United Kingdom, Belgium, Canada, Australia and Japan between April 2018 and June 2021.
Pre-assignment Details A total of 44 participants were screened, of which 14 were screen failures and 30 were enrolled and received study drug. One participant was initially diagnosed as having 3 copies of survival of motor neuron 2 (SMN2) and was enrolled into Cohort 2, but a re-confirmation test reported post-dose showed 4 copies of SMN2. This participant was excluded from all analysis populations and data is not reported due to privacy concerns.
Arm/Group Title Cohort 1: Bi-allelic Deletions of SMN1 and 2 Copies of SMN2 Cohort 2: Bi-allelic Deletions of SMN1 and 3 Copies of SMN2
Hide Arm/Group Description Participants with bi-allelic deletions of survival of motor neuron 1 (SMN1) and 2 copies of SMN2 received a single dose of AVXS-101 administered as an intravenous (IV) infusion over 60 minutes at a dose of 1.1 × 10^14 vg/kg (vector genome per kilogram) on Day 1 of the overall study. Participants also received daily doses of prophylactic oral prednisolone starting at a dose of 1-2 mg/kg/day from 1 day prior to AVXS-101 infusion until at least 30 days post-infusion at which point the prednisolone dose could be tapered downwards. At week 9, prednisolone could be discontinued. Participants with bi-allelic deletions of SMN1 and 3 copies of SMN2 received a single dose of AVXS-101 administered as an IV infusion over 60 minutes at a dose of 1.1 × 10^14 vg/kg on Day 1 of the overall study. Participants also received daily doses of prophylactic oral prednisolone starting at a dose of 1-2 mg/kg/day from 1 day prior to AVXS-101 infusion until at least 30 days post-infusion at which point the prednisolone dose could be tapered downwards. At week 9, prednisolone could be discontinued.
Period Title: Overall Study
Started 14 15
Received AVXS-101 14 15
Completed 14 15
Not Completed 0 0
Arm/Group Title Cohort 1: Bi-allelic Deletions of SMN1 and 2 Copies of SMN2 Cohort 2: Bi-allelic Deletions of SMN1 and 3 Copies of SMN2 Total
Hide Arm/Group Description Participants with bi-allelic deletions of survival of motor neuron 1 (SMN1) and 2 copies of SMN2 received a single dose of AVXS-101 administered as an intravenous (IV) infusion over 60 minutes at a dose of 1.1 × 10^14 vg/kg (vector genome per kilogram) on Day 1 of the overall study. Participants also received daily doses of prophylactic oral prednisolone starting at a dose of 1-2 mg/kg/day from 1 day prior to AVXS-101 infusion until at least 30 days post-infusion at which point the prednisolone dose could be tapered downwards. At week 9, prednisolone could be discontinued. Participants with bi-allelic deletions of SMN1 and 3 copies of SMN2 received a single dose of AVXS-101 administered as an IV infusion over 60 minutes at a dose of 1.1 × 10^14 vg/kg on Day 1 of the overall study. Participants also received daily doses of prophylactic oral prednisolone starting at a dose of 1-2 mg/kg/day from 1 day prior to AVXS-101 infusion until at least 30 days post-infusion at which point the prednisolone dose could be tapered downwards. At week 9, prednisolone could be discontinued Total of all reporting groups
Overall Number of Baseline Participants 14 15 29
Hide Baseline Analysis Population Description
[Not Specified]
Age, Categorical  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 14 participants 15 participants 29 participants
<=18 years
14
 100.0%
15
 100.0%
29
 100.0%
Between 18 and 65 years
0
   0.0%
0
   0.0%
0
   0.0%
>=65 years
0
   0.0%
0
   0.0%
0
   0.0%
Sex: Female, Male  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 14 participants 15 participants 29 participants
Female
10
  71.4%
9
  60.0%
19
  65.5%
Male
4
  28.6%
6
  40.0%
10
  34.5%
Ethnicity (NIH/OMB)  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 14 participants 15 participants 29 participants
Hispanic or Latino
4
  28.6%
2
  13.3%
6
  20.7%
Not Hispanic or Latino
10
  71.4%
13
  86.7%
23
  79.3%
Unknown or Not Reported
0
   0.0%
0
   0.0%
0
   0.0%
Race/Ethnicity, Customized  
Measure Type: Count of Participants
Unit of measure:  Participants
 Number Analyzed 14 participants 15 participants 29 participants
Asian
2
  14.3%
2
  13.3%
4
  13.8%
American Indian or Alaska Native
0
   0.0%
1
   6.7%
1
   3.4%
Black or African American
1
   7.1%
0
   0.0%
1
   3.4%
White
7
  50.0%
10
  66.7%
17
  58.6%
Other
4
  28.6%
2
  13.3%
6
  20.7%
SMN2 gene modifier mutation (c.859G>C) Present  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 14 participants 15 participants 29 participants
0
   0.0%
0
   0.0%
0
   0.0%
1.Primary Outcome
Title Cohort 1: Number of Participants Who Achieved Sitting Alone for at Least 30 Seconds
Hide Description Defined by the Bayley Scales of Infant and Toddler Development (BSID) Gross Motor (GM) subtest performance criteria number 26, confirmed by video recording, as a participant who sits for at least 30 seconds without assistance from another person or object. The participant was allowed to use their upper extremities.
Time Frame From Day 1 up to 18 months of age visit
Hide Outcome Measure Data
Hide Analysis Population Description
Intent-to-Treat (ITT) population (cohort 1) - All enrolled participants with bi-allelic SMN1 deletions and 2 copies of SMN2 without the SMN2 gene modifier mutation (c.859G>C) who received AVXS-101.
Arm/Group Title Cohort 1: Bi-allelic Deletions of SMN1 and 2 Copies of SMN2
Hide Arm/Group Description:
Participants with bi-allelic deletions of survival of motor neuron 1 (SMN1) and 2 copies of SMN2 received a single dose of AVXS-101 administered as an intravenous (IV) infusion over 60 minutes at a dose of 1.1 × 10^14 vg/kg (vector genome per kilogram) on Day 1 of the overall study. Participants also received daily doses of prophylactic oral prednisolone starting at a dose of 1-2 mg/kg/day from 1 day prior to AVXS-101 infusion until at least 30 days post-infusion at which point the prednisolone dose could be tapered downwards. At week 9, prednisolone could be discontinued.
Overall Number of Participants Analyzed 14
Measure Type: Count of Participants
Unit of Measure: Participants
14
 100.0%
2.Primary Outcome
Title Cohort 2: Number of Participants Who Achieved Standing Alone for at Least 3 Seconds
Hide Description Defined by the BSID GM subtest performance criteria number 40, confirmed by video recording, as a participant who stands alone for at least 3 seconds unsupported.
Time Frame From Day 1 up to 24 months of age visit
Hide Outcome Measure Data
Hide Analysis Population Description
ITT population (cohort 2) - All enrolled participants with bi-allelic SMN1 deletions and 3 copies of SMN2 without the SMN2 gene modifier mutation (c.859G>C) who received AVXS-101.
Arm/Group Title Cohort 2: Bi-allelic Deletions of SMN1 and 3 Copies of SMN2
Hide Arm/Group Description:
Participants with bi-allelic deletions of SMN1 and 3 copies of SMN2 received a single dose of AVXS-101 administered as an IV infusion over 60 minutes at a dose of 1.1 × 10^14 vg/kg on Day 1 of the overall study. Participants also received daily doses of prophylactic oral prednisolone starting at a dose of 1-2 mg/kg/day from 1 day prior to AVXS-101 infusion until at least 30 days post-infusion at which point the prednisolone dose could be tapered downwards. At week 9, prednisolone could be discontinued.
Overall Number of Participants Analyzed 15
Measure Type: Count of Participants
Unit of Measure: Participants
15
 100.0%
3.Secondary Outcome
Title Cohort 1: Event-free Survival at 14 Months of Age
Hide Description Event-free survival at 14 months of age was defined as the number of participants who did not die, did not require permanent ventilation and did not withdraw from the study by 14 months of age.
Time Frame From Day 1 up to 14 months of age
Hide Outcome Measure Data
Hide Analysis Population Description
ITT population (cohort 1) - All enrolled participants with bi-allelic SMN1 deletions and 2 copies of SMN2 without the SMN2 gene modifier mutation (c.859G>C) who received AVXS-101.
Arm/Group Title Cohort 1: Bi-allelic Deletions of SMN1 and 2 Copies of SMN2
Hide Arm/Group Description:
Participants with bi-allelic deletions of survival of motor neuron 1 (SMN1) and 2 copies of SMN2 received a single dose of AVXS-101 administered as an intravenous (IV) infusion over 60 minutes at a dose of 1.1 × 10^14 vg/kg (vector genome per kilogram) on Day 1 of the overall study. Participants also received daily doses of prophylactic oral prednisolone starting at a dose of 1-2 mg/kg/day from 1 day prior to AVXS-101 infusion until at least 30 days post-infusion at which point the prednisolone dose could be tapered downwards. At week 9, prednisolone could be discontinued.
Overall Number of Participants Analyzed 14
Measure Type: Count of Participants
Unit of Measure: Participants
14
 100.0%
4.Secondary Outcome
Title Cohort 1: Number of Participants Who Achieved the Ability to Maintain Weight at or Above the Third Percentile Without the Need for Non-Oral or Mechanical Feeding Support
Hide Description

The ability to maintain weight at or above the third percentile without the need for non-oral or mechanical feeding support was defined by meeting the following criteria at each visit up to 18 months of age:

  • Did not receive nutrition through mechanical support (i.e., feeding tube)
  • Maintained weight (≥ third percentile for age and sex as defined by World Health Organization [WHO] guidelines) consistent with the participant's age at the assessment.
Time Frame From Day 1 up to 18 months of age
Hide Outcome Measure Data
Hide Analysis Population Description
ITT population (cohort 1) - All enrolled participants with bi-allelic SMN1 deletions and 2 copies of SMN2 without the SMN2 gene modifier mutation (c.859G>C) who received AVXS-101.
Arm/Group Title Cohort 1: Bi-allelic Deletions of SMN1 and 2 Copies of SMN2
Hide Arm/Group Description:
Participants with bi-allelic deletions of survival of motor neuron 1 (SMN1) and 2 copies of SMN2 received a single dose of AVXS-101 administered as an intravenous (IV) infusion over 60 minutes at a dose of 1.1 × 10^14 vg/kg (vector genome per kilogram) on Day 1 of the overall study. Participants also received daily doses of prophylactic oral prednisolone starting at a dose of 1-2 mg/kg/day from 1 day prior to AVXS-101 infusion until at least 30 days post-infusion at which point the prednisolone dose could be tapered downwards. At week 9, prednisolone could be discontinued.
Overall Number of Participants Analyzed 14
Measure Type: Count of Participants
Unit of Measure: Participants
13
  92.9%
5.Secondary Outcome
Title Cohort 2: Number of Participants Who Achieved the Ability to Walk Alone
Hide Description Defined by the BSID GM subtest performance criteria number 43, confirmed by video recording, as a participant who takes 5 coordinated independent steps.
Time Frame From Day 1 up to 24 months of age visit
Hide Outcome Measure Data
Hide Analysis Population Description
ITT population (cohort 2) - All enrolled participants with bi-allelic SMN1 deletions and 3 copies of SMN2 without the SMN2 gene modifier mutation (c.859G>C) who received AVXS-101.
Arm/Group Title Cohort 2: Bi-allelic Deletions of SMN1 and 3 Copies of SMN2
Hide Arm/Group Description:
Participants with bi-allelic deletions of SMN1 and 3 copies of SMN2 received a single dose of AVXS-101 administered as an IV infusion over 60 minutes at a dose of 1.1 × 10^14 vg/kg on Day 1 of the overall study. Participants also received daily doses of prophylactic oral prednisolone starting at a dose of 1-2 mg/kg/day from 1 day prior to AVXS-101 infusion until at least 30 days post-infusion at which point the prednisolone dose could be tapered downwards. At week 9, prednisolone could be discontinued.
Overall Number of Participants Analyzed 15
Measure Type: Count of Participants
Unit of Measure: Participants
14
  93.3%
Time Frame Cohort 1: Treatment-emergent adverse events (TEAEs) were collected from Day 1 up to the 18 months of age visit. Serious adverse events (SAEs) were collected from signing of informed consent to 30 days after the last study visit (up to a maximum of approximately 20 months). Cohort 2: TEAEs were collected from Day 1 up to the 24 months of age visit. SAEs were collected from signing of informed consent to 30 days after the last study visit (up to a maximum of approximately 26 months).
Adverse Event Reporting Description [Not Specified]
 
Arm/Group Title Cohort 1: Bi-allelic Deletions of SMN1 and 2 Copies of SMN2 Cohort 2: Bi-allelic Deletions of SMN1 and 3 Copies of SMN2
Hide Arm/Group Description Participants with bi-allelic deletions of survival of motor neuron 1 (SMN1) and 2 copies of SMN2 received a single dose of AVXS-101 administered as an intravenous (IV) infusion over 60 minutes at a dose of 1.1 × 10^14 vg/kg (vector genome per kilogram) on Day 1 of the overall study. Participants also received daily doses of prophylactic oral prednisolone starting at a dose of 1-2 mg/kg/day from 1 day prior to AVXS-101 infusion until at least 30 days post-infusion at which point the prednisolone dose could be tapered downwards. At week 9, prednisolone could be discontinued. Participants with bi-allelic deletions of SMN1 and 3 copies of SMN2 received a single dose of AVXS-101 administered as an IV infusion over 60 minutes at a dose of 1.1 × 10^14 vg/kg on Day 1 of the overall study. Participants also received daily doses of prophylactic oral prednisolone starting at a dose of 1-2 mg/kg/day from 1 day prior to AVXS-101 infusion until at least 30 days post-infusion at which point the prednisolone dose could be tapered downwards. At week 9, prednisolone could be discontinued.
All-Cause Mortality
Cohort 1: Bi-allelic Deletions of SMN1 and 2 Copies of SMN2 Cohort 2: Bi-allelic Deletions of SMN1 and 3 Copies of SMN2
Affected / at Risk (%) Affected / at Risk (%)
Total   0/14 (0.00%)      0/15 (0.00%)    
Hide Serious Adverse Events
Cohort 1: Bi-allelic Deletions of SMN1 and 2 Copies of SMN2 Cohort 2: Bi-allelic Deletions of SMN1 and 3 Copies of SMN2
Affected / at Risk (%) # Events Affected / at Risk (%) # Events
Total   5/14 (35.71%)      3/15 (20.00%)    
Ear and labyrinth disorders     
Middle ear effusion † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Gastrointestinal disorders     
Inguinal hernia † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Infections and infestations     
Croup infectious † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Pyelonephritis † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Ear infection † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Pharyngitis † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Metabolism and nutrition disorders     
Hypercalcaemia † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Nervous system disorders     
Lethargy † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Respiratory, thoracic and mediastinal disorders     
Sleep apnoea syndrome † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
1
Term from vocabulary, MedDRA (23.0)
†
Indicates events were collected by systematic assessment
Hide Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events 0%
Cohort 1: Bi-allelic Deletions of SMN1 and 2 Copies of SMN2 Cohort 2: Bi-allelic Deletions of SMN1 and 3 Copies of SMN2
Affected / at Risk (%) # Events Affected / at Risk (%) # Events
Total   14/14 (100.00%)      15/15 (100.00%)    
Blood and lymphatic system disorders     
Lymphadenopathy † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Microcytic anaemia † 1  1/14 (7.14%)  1 2/15 (13.33%)  3
Thrombocytopenia † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Iron deficiency anaemia † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Congenital, familial and genetic disorders     
Dacryostenosis congenital † 1  1/14 (7.14%)  1 1/15 (6.67%)  1
Hydrocele † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Ear and labyrinth disorders     
Middle ear effusion † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Ear pain † 1  0/14 (0.00%)  0 1/15 (6.67%)  2
Endocrine disorders     
Precocious puberty † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Cushingoid † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Eye disorders     
Eye discharge † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Chalazion † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Ocular hyperaemia † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Gastrointestinal disorders     
Abdominal discomfort † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Constipation † 1  4/14 (28.57%)  5 1/15 (6.67%)  1
Diarrhoea † 1  3/14 (21.43%)  4 4/15 (26.67%)  5
Dysphagia † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Flatulence † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Gastrooesophageal reflux disease † 1  3/14 (21.43%)  3 3/15 (20.00%)  4
Gingival pain † 1  1/14 (7.14%)  2 0/15 (0.00%)  0
Inguinal hernia † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Teething † 1  2/14 (14.29%)  2 5/15 (33.33%)  6
Tooth development disorder † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Vomiting † 1  3/14 (21.43%)  3 2/15 (13.33%)  2
Abdominal pain upper † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Haematemesis † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Haematochezia † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Nausea † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Regurgitation † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Stomatitis † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
General disorders     
Developmental delay † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Influenza like illness † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Malaise † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Pyrexia † 1  7/14 (50.00%)  7 11/15 (73.33%)  18
Vessel puncture site bruise † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Immune system disorders     
Food allergy † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Infections and infestations     
Adenovirus infection † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
COVID-19 † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Candida infection † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Candida nappy rash † 1  1/14 (7.14%)  2 0/15 (0.00%)  0
Conjunctivitis † 1  1/14 (7.14%)  2 1/15 (6.67%)  2
Croup infectious † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Ear infection † 1  2/14 (14.29%)  3 1/15 (6.67%)  3
Fungal infection † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Gastroenteritis viral † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Infected bite † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Influenza † 1  2/14 (14.29%)  2 0/15 (0.00%)  0
Nasopharyngitis † 1  2/14 (14.29%)  3 3/15 (20.00%)  4
Otitis media † 1  1/14 (7.14%)  1 3/15 (20.00%)  6
Pneumonia † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Respiratory tract infection † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Respiratory tract infection viral † 1  1/14 (7.14%)  1 1/15 (6.67%)  2
Rhinitis † 1  1/14 (7.14%)  1 1/15 (6.67%)  1
Rhinovirus infection † 1  2/14 (14.29%)  2 0/15 (0.00%)  0
Upper respiratory tract infection † 1  5/14 (35.71%)  7 9/15 (60.00%)  13
Viral upper respiratory tract infection † 1  3/14 (21.43%)  10 1/15 (6.67%)  1
Bronchitis † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Exanthema subitum † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Fungal skin infection † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Gastroenteritis † 1  0/14 (0.00%)  0 2/15 (13.33%)  3
Hand-foot-and-mouth disease † 1  0/14 (0.00%)  0 2/15 (13.33%)  2
Otitis media acute † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Respiratory syncytial virus infection † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Roseola † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Urinary tract infection † 1  0/14 (0.00%)  0 2/15 (13.33%)  2
Viral infection † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Injury, poisoning and procedural complications     
Eye injury † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Skin abrasion † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Tracheal deviation † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Arthropod sting † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Contusion † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Eyelid injury † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Scratch † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Skin wound † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Investigations     
Alanine aminotransferase increased † 1  1/14 (7.14%)  2 3/15 (20.00%)  5
Aspartate aminotransferase increased † 1  3/14 (21.43%)  4 4/15 (26.67%)  6
Blood creatine phosphokinase MB increased † 1  1/14 (7.14%)  1 2/15 (13.33%)  2
Blood creatine phosphokinase increased † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Gamma-glutamyltransferase increased † 1  1/14 (7.14%)  1 1/15 (6.67%)  1
Head lag † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Platelet count decreased † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Platelet count increased † 1  1/14 (7.14%)  1 1/15 (6.67%)  1
Troponin increased † 1  1/14 (7.14%)  2 2/15 (13.33%)  2
Bacterial test positive † 1  0/14 (0.00%)  0 1/15 (6.67%)  2
Blood alkaline phosphatase increased † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Blood calcium increased † 1  0/14 (0.00%)  0 2/15 (13.33%)  2
Carbon dioxide decreased † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Metabolism and nutrition disorders     
Failure to thrive † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Hypercalcaemia † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Hypomagnesaemia † 1  1/14 (7.14%)  2 0/15 (0.00%)  0
Lactose intolerance † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Poor feeding infant † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Weight gain poor † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Musculoskeletal and connective tissue disorders     
Hip deformity † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Joint contracture † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Kyphosis † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Loose body in joint † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Pain in extremity † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Nervous system disorders     
Areflexia † 1  2/14 (14.29%)  2 1/15 (6.67%)  2
Hypertonia † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Hypokinesia † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Hyporeflexia † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Hypotonia † 1  3/14 (21.43%)  5 2/15 (13.33%)  3
Motor developmental delay † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Muscle contractions involuntary † 1  3/14 (21.43%)  3 1/15 (6.67%)  1
Tremor † 1  3/14 (21.43%)  4 0/15 (0.00%)  0
Febrile convulsion † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Lethargy † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Psychiatric disorders     
Irritability † 1  1/14 (7.14%)  1 1/15 (6.67%)  2
Agitation † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Renal and urinary disorders     
Nephrocalcinosis † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Pyelocaliectasis † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Dysuria † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Respiratory, thoracic and mediastinal disorders     
Cough † 1  1/14 (7.14%)  4 4/15 (26.67%)  6
Nasal congestion † 1  3/14 (21.43%)  3 2/15 (13.33%)  2
Rhinorrhoea † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Sleep apnoea syndrome † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Snoring † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Upper respiratory tract congestion † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Skin and subcutaneous tissue disorders     
Cafe au lait spots † 1  1/14 (7.14%)  1 0/15 (0.00%)  0
Eczema † 1  2/14 (14.29%)  2 0/15 (0.00%)  0
Rash † 1  3/14 (21.43%)  6 2/15 (13.33%)  2
Blister † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Dermatitis diaper † 1  0/14 (0.00%)  0 3/15 (20.00%)  3
Eczema infantile † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Lipohypertrophy † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Miliaria † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Pruritus † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
Rash macular † 1  0/14 (0.00%)  0 1/15 (6.67%)  1
1
Term from vocabulary, MedDRA (23.0)
†
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.
Depending on local requirements, Sponsor's consent necessary before publication of study, or Sponsor can review results communications before public release with a right to request changes to communications regarding trial results between 40 to 60 and up to 90 or 120 days, as applicable, from the time submitted to Sponsor for review to remove references to Sponsor's Confidential Information or delay results communications to permit Sponsor to obtain appropriate Intellectual Property protection.
Results Point of Contact
Layout table for Results Point of Contact information
Name/Title: EMEA Medical Information
Organization: Novartis Gene Therapies EU Limited
Phone: +353 (1) 566-2364
EMail: medinfoemea.gtx@novartis.com
Layout table for additonal information
Responsible Party: Novartis ( Novartis Gene Therapies )
ClinicalTrials.gov Identifier: NCT03505099    
Other Study ID Numbers: AVXS-101-CL-304
2017-004087-35 ( EudraCT Number )
JapicCTI-184203 ( Registry Identifier: JapicCTI )
First Submitted: April 13, 2018
First Posted: April 23, 2018
Results First Submitted: December 14, 2021
Results First Posted: January 11, 2022
Last Update Posted: January 11, 2022