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Natural History Study Protocol in PMM2-CDG (CDG-Ia)

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ClinicalTrials.gov Identifier: NCT03173300
Recruitment Status : Recruiting
First Posted : June 1, 2017
Last Update Posted : March 29, 2019
Sponsor:
Information provided by (Responsible Party):
Glycomine, Inc.

Tracking Information
First Submitted Date May 30, 2017
First Posted Date June 1, 2017
Last Update Posted Date March 29, 2019
Actual Study Start Date January 8, 2018
Estimated Primary Completion Date September 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: May 30, 2017)
collect clinical and biological information in patients with CDG-PMM2 [ Time Frame: up to 3 years ]
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT03173300 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Natural History Study Protocol in PMM2-CDG (CDG-Ia)
Official Title Clinical and Basic Investigations Into Phosphomannomutase Deficiency (PMM2-CDG)
Brief Summary

Clinical and Basic Investigations into Phosphomannomutase deficiency (PMM2-CDG)

This is a natural history (observational) protocol designed to collect clinical and biological information in patients with PMM2-CDG (CDG-Ia).

Data from this natural history study will be used to determine a set of clinical and biological parameters that will be used for primary and secondary endpoints in a later clinical trial with a new chemical entity, Lipo-M1P.

Detailed Description

Subjects enrolled in this natural history study will be thoroughly examined for signs and symptoms of PMM2-CDG. Medical history, physical examination, laboratory testing and imaging studies will be performed during a single consultation. Follow-up will occur every 6 months at a minimum, depending on the standard of care at the investigator's institution as well as the clinical status of the individual patient. All medical procedures are routine. No new therapy is offered as part of this study, and no change in the patients' routine therapy is dictated by this protocol. No randomization will be performed.

Since no new therapy is offered as part of this study and no change in the patients' routine therapy is dictated by this protocol, only Serious Adverse Events potentially related to a procedure specifically requested (if any) by this natural history study will need to be reported to the Sponsor. However, all non-serious adverse events will be recorded in the natural history (observational) study CRF database, in order to be considered as a reference for the planned clinical trial to occur later on under a separate protocol.

Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Patients with PMM2-CDG, all ages
Condition Phosphomannomutase 2 Deficiency
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: May 30, 2017)
48
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 2021
Estimated Primary Completion Date September 2021   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Informed consent/assent by the patient and/or their legally authorized representative
  • Confirmed diagnosis of PMM2-CDG, based on enzymatic or molecular tests
  • Willing and able to adhere to study requirements described in the protocol and consent/assent documents

Exclusion Criteria:

  • Known or suspected differential diagnosis of any other known CDG (not PMM2-CDG)
  • Plan to use investigational drug during study participation
  • Blood loss of >250 mL or donated blood within 56 days, or donated plasma within 7 days, of study screening
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Mary Jo Bagger / Sr. Director, Clinical Operations +1 (858) 500-6621 mbagger@glycomine.com
Listed Location Countries Belgium,   Czechia,   France,   Italy,   Netherlands,   Poland,   Portugal,   United States
Removed Location Countries United Kingdom
 
Administrative Information
NCT Number NCT03173300
Other Study ID Numbers GLY-000
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: Undecided
Responsible Party Glycomine, Inc.
Study Sponsor Glycomine, Inc.
Collaborators Not Provided
Investigators
Study Director: Patrice Rioux MD, PhD / Chief Medical Officer Glycomine, Inc.
PRS Account Glycomine, Inc.
Verification Date March 2019