Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
Sponsored by Idorsia Pharmaceuticals Ltd.
About this trial
Last updated 3 years ago
Study ID
ID-085A301
Status
Completed
Type
Observational
Placebo
No
Accepting
All
All
Not accepting
Healthy Volunteers
Trial Timing
Ended 3 years ago
What is this trial 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.
What are the participation requirements?
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.