Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 G… (NCT04470713) | Clinical Trial Compass
CompletedNot Applicable
Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
United States, Belgium, Brazil226 participantsStarted 2019-07-31
Plain-language 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.
Who can participate
Age range
0 Months
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Survival of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, and Gaucher Disease type 2