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

Idorsia Pharmaceuticals

Status

Completed

Conditions

GM1 Gangliosidosis

Tay-Sachs Disease

Gaucher Disease, Type 2

GM2 Gangliosidosis

Sandhoff Disease

AB Variant Gangliosidosis GM2

Study type

Observational

Funder types

Industry

Identifiers

NCT04470713

ID-085A301

2019-01125 (Other Identifier)

Details and patient eligibility

About

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.

Enrollment

226 patients

Sex

All

Volunteers

No Healthy Volunteers

Inclusion and exclusion 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.

Trial design

226 participants in 2 patient groups

Group A - Retrospective data collection

Description:

Participants with a confirmed diagnosis, either deceased patients or patients whose survival status is not known at enrollment.

Group B - Prospective data collection

Description:

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.