Registry for Gangliosidoses
Eight At One Stroke: Attention Gangliosidoses A Registry Study for Patients With Gangliosidoses
This study is creating a registry to track the symptoms and progress of gangliosidoses, like GM1 Gangliosidosis and Morquio B Disease, to better understand these conditions and push for new treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 40 (estimated) |
| Sex | All |
| Sponsor | SphinCS Lyso Gemeinnutzige UG (Haftungsbeschrankt) Academic / other |
| Locations | 1 site (Hochheim, HE) |
| Trial ID | NCT04624789 on ClinicalTrials.gov |
What this trial studies
This project aims to create a clinical registry to document the clinical manifestations and progression of gangliosidoses, including GM1 Gangliosidosis and Morquio B Disease. It will collect epidemiological and clinical data, analyze the natural course of these diseases, and compare family perceptions with clinical findings. The involvement of patients and their families is crucial for understanding the psychosocial impact and for raising awareness among pharmaceutical companies about the need for new treatments. The study includes both retrospective and prospective data collection to support future drug studies and validate potential biomarkers.
Who should consider this trial
Good fit: Ideal candidates include individuals with a biochemically or genetically confirmed diagnosis of gangliosidosis.
Not a fit: Patients without a confirmed diagnosis of gangliosidosis or those unable to provide informed consent will not benefit from this study.
Why it matters
Potential benefit: If successful, this registry could enhance understanding of gangliosidoses and improve patient outcomes through better-targeted therapies.
How similar studies have performed: While this approach is not widely tested, similar registries have shown promise in enhancing understanding and treatment of rare diseases.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Biochemically and/or genetically affirmed diagnosis of a gangliosidosis * The patient or respectively the parents or the caregiver (for children or older underage patients) have given written informed consent Exclusion Criteria: * The diagnosis of a gangliosidosis has not biochemically or genetically confirmed. * A written informed consent of the patient or parents/acaregiver does not exist.
Where this trial is running
Hochheim, HE
- SphinCS Lyso gemeinnützige UG (haftungsbeschränkt) — Hochheim, He, Germany (Recruiting)
Study contacts
- Study coordinator: Eugen Mengel, MD
- Email: info@sphincs.de
- Phone: 0496146904820
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.