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 : Completed
First Posted : July 14, 2020
Last Update Posted : November 8, 2021
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|
|Study Type :||Observational|
|Actual Enrollment :||226 participants|
|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.
- Survival of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2 [ Time Frame: 2.5 years ]
- 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.
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
|Study Director:||Clinical Trials||Idorsia Pharmaceuticals Ltd.|