Understanding the progression of glycosphingolipid and glycoprotein disorders
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
This study is testing how certain genetic disorders affect people over time to find better ways to track their progress and understand the disease.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 200 (estimated) |
| Ages | 1 Day to 100 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT00029965 on ClinicalTrials.gov |
What this trial studies
This observational study aims to evaluate patients with enzyme or DNA confirmed GM1 or GM2 gangliosidosis, sialidosis, or galactosialidosis. Participants will undergo evaluations at varying intervals based on the onset of their disease, allowing for both serial and cross-sectional data analysis. The study seeks to identify genotype-phenotype correlations and develop sensitive monitoring tools for disease progression. Additionally, it aims to discover biological markers that correlate with disease severity and can serve as outcome measures for future clinical trials.
Who should consider this trial
Good fit: Ideal candidates include individuals over 6 months of age with confirmed GM1 or GM2 gangliosidosis or related disorders.
Not a fit: Patients who are too medically fragile to travel for evaluations or unable to comply with the study protocol may not benefit.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and monitoring of rare neurodegenerative disorders, potentially guiding future treatments.
How similar studies have performed: While this study focuses on rare disorders, similar observational studies have successfully advanced understanding of other lysosomal storage diseases.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: Any individual with GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis documented by enzyme deficiency or mutation analysis in a CLIA-approved laboratory will be eligible for the study. EXCLUSION CRITERIA: There will be no exclusion based on race, gender, or ethnicity; however particular ethnic groups may be overrepresented due to the frequency of the diseases in a specific population (e.g., Ashkenazi Jews in infantile and adult GM2 and Roma "travelers" in juvenile GM1). The majority of juvenile subjects will have severely impaired decision-making and even informed assent in older children may not be possible. Children with Morquio B disease are not expected to be cognitively impaired. The children with Morquio B ages 7-11 years will be asked to give verbal assent and ages 12-17 years will be asked to give written assent to the protocol. Some subjects who have reached the age of 18 may need to have legally authorized representative (usually their parents) sign consent on their behalf.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Cynthia J Tifft, M.D. — National Human Genome Research Institute (NHGRI)
- Study coordinator: Jean M Johnston
- Email: johnstonjm@mail.nih.gov
- Phone: (240) 515-1448
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.