An observational study in GM1 Gangliosidosis, GM2 Gangliosidosis and Gaucher Disease, Type 2, sponsored by Idorsia Pharmaceuticals Ltd.. Completed at 17 sites in 10 countries. Open to participants aged 0 Months and older. Per ClinicalTrials.gov, last updated 2021-11-08.
Sponsored by Idorsia Pharmaceuticals Ltd. · Observational
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.
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:
Participants with a confirmed diagnosis, either deceased patients or patients whose survival status is not known at enrollment.
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
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.
Time frame: 2.5 years
Plan to share: No
No publications or documents are linked to this record.
This study is completed, as verified in Nov 2021. You cannot join it, but the record below documents what was studied.
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Idorsia Pharmaceuticals Ltd.