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

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: NCT04470713
Recruitment Status : Completed
First Posted : July 14, 2020
Last Update Posted : November 8, 2021
Information provided by (Responsible Party):
Idorsia Pharmaceuticals Ltd.

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.

Condition or disease
GM1 Gangliosidosis GM2 Gangliosidosis Gaucher Disease, Type 2 Tay-Sachs Disease AB Variant Gangliosidosis GM2 Sandhoff Disease

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Study Type : Observational
Actual Enrollment : 226 participants
Observational Model: Case-Only
Time Perspective: Other
Official Title: Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
Actual Study Start Date : July 31, 2019
Actual Primary Completion Date : October 30, 2021
Actual Study Completion Date : October 30, 2021

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.

Primary Outcome Measures :
  1. Survival of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2 [ Time Frame: 2.5 years ]

Other Outcome Measures:
  1. 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.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   0 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04470713

Show Show 17 study locations
Sponsors and Collaborators
Idorsia Pharmaceuticals Ltd.
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Study Director: Clinical Trials Idorsia Pharmaceuticals Ltd.
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Responsible Party: Idorsia Pharmaceuticals Ltd.
ClinicalTrials.gov Identifier: NCT04470713    
Other Study ID Numbers: ID-085A301
2019-01125 ( Other Identifier: BASEC )
First Posted: July 14, 2020    Key Record Dates
Last Update Posted: November 8, 2021
Last Verified: November 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Gaucher Disease
Tay-Sachs Disease
Gangliosidosis, GM1
Sandhoff Disease
Gangliosidoses, GM2
Tay-Sachs Disease, AB Variant
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders