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Trial record 3 of 14 for:    Recruiting, Not yet recruiting, Active, not recruiting, Enrolling by invitation Studies | GM2 Gangliosidosis

Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2 (RETRIEVE)

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ClinicalTrials.gov Identifier: NCT04470713
Recruitment Status : Recruiting
First Posted : July 14, 2020
Last Update Posted : May 12, 2021
Sponsor:
Information provided by (Responsible Party):
Idorsia Pharmaceuticals Ltd.

Tracking Information
First Submitted Date July 10, 2020
First Posted Date July 14, 2020
Last Update Posted Date May 12, 2021
Actual Study Start Date July 31, 2019
Estimated Primary Completion Date November 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: July 10, 2020)
Survival of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2 [ Time Frame: 2.5 years ]
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures
 (submitted: July 23, 2020)
Epidemiological data available from medical records [ Time Frame: 2.5 years ]
Patients' medical record data such as date of diagnosis, the date of appearance of first neurological symptom, dates of gain or loss of specific abilities (e.g. ability to sit) will be collected, if available.
Original Other Pre-specified Outcome Measures
 (submitted: July 10, 2020)
Epidemiological data available from medical records [ Time Frame: 2.5 years ]
 
Descriptive Information
Brief Title Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
Official Title Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
Brief Summary

This study is being conducted to better understand the natural course of GM1 gangliosidosis, GM2 gangliosidoses and Gaucher disease Type 2 (GD2). Information is planned to be gathered on at least 180 patients with GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2. Retrospective data collection is planned for at least 150 deceased patients (Group A). Group B is for patients alive at the time of enrollment. In Group B it is planned to prospectively collect more comprehensive data from at least 30 patients. The purpose of this study is to collect relevant information for a adequate design of a potential subsequent research program in these diseases.

In this study no therapy is being offered.

Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Case-Only
Time Perspective: Other
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population This study will be conducted in hospitals/clinical centers managing pediatric patients with GM1 gangliosidosis, GM2 gangliosidoses, and/or Gaucher Disease type 2 across several countries in North America, South America, and Europe. In order to minimize the patient/data selection bias, the centers are asked to include all eligible patients from their center.
Condition
  • GM1 Gangliosidosis
  • GM2 Gangliosidosis
  • Gaucher Disease, Type 2
  • Tay-Sachs Disease
  • AB Variant Gangliosidosis GM2
  • Sandhoff Disease
Intervention Not Provided
Study Groups/Cohorts
  • Group A - Retrospective data collection
    Participants with a confirmed diagnosis, either deceased patients or patients whose survival status is not known at enrollment.
  • Group B - Prospective data collection
    Participants who are alive at enrollment. Data collection is retrospective for the time between birth and enrollment visit, and data collection is prospective from the enrollment visit onwards. Visits are performed as per local standard of care.
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: July 10, 2020)
180
Original Estimated Enrollment Same as current
Estimated Study Completion Date November 2021
Estimated Primary Completion Date November 2021   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Patient with either GM1 gangliosidosis, GM2 gangliosidoses (Tay-Sachs, Sandhoff, or AB Variant), or Gaucher Disease Type 2.
  • Diagnosis confirmed by either biochemical (enzyme activity) or genetic testing, or both.
  • Date of birth on or after 1 January 2000.
  • Onset of first neurological symptom within 24 months of age.
  • Informed consent of parent or legal guardian as required by local law.
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Clinical Trial Disclosure Desk +41 588 44 1977 clinical-trials-disclosure@idorsia.com
Contact: Clinical Trial Disclosure Desk +1 856 661 3721 clinical-trials-disclosure@idorsia.com
Listed Location Countries Belgium,   Brazil,   France,   Germany,   Italy,   Portugal,   Spain,   Switzerland,   United Kingdom,   United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT04470713
Other Study ID Numbers ID-085A301
2019-01125 ( Other Identifier: BASEC )
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: No
Responsible Party Idorsia Pharmaceuticals Ltd.
Study Sponsor Idorsia Pharmaceuticals Ltd.
Collaborators Not Provided
Investigators
Study Director: Clinical Trials Idorsia Pharmaceuticals Ltd.
PRS Account Idorsia Pharmaceuticals Ltd.
Verification Date May 2021