Understanding the progression of glycosphingolipid and glycoprotein disorders
Official title: Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Run by National Institutes of Health Clinical Center (CC) · NCT00029965 · Data updated 2026-11-12
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 |
|---|---|
| Ages | 1 Day to 100 Years |
| Sex | All |
| Enrollment | 200 (estimated) |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Status | Recruiting |
| Started | February 6, 2002 |
| Registry record updated | November 9, 2026 |
| Trial ID | NCT00029965 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals over 6 months of age with confirmed GM1 or GM2 gangliosidosis or related disorders.
✕Probably not a fit
Patients who are too medically fragile to travel for evaluations or unable to comply with the study protocol may not benefit.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: While this study focuses on rare disorders, similar observational studies have successfully advanced understanding of other lysosomal storage diseases.
Who can join: the full rules
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 and sialidosis type 1 disease are not expected to be cognitively impaired. The children with Morquio B and sialidosis type 1 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 it's running
-
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
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Registry and natural history of epilepsy-dyskinesia syndromes
This registry will collect health data and biological samples from people of all ages who have a genetic diagnosis of epilepsy-dyskinesia syndromes to see how their genes relate to their movement and seizure symptoms over time.
-
Understanding epilepsy-dyskinesia syndromes in children
This study is trying to learn more about epilepsy-dyskinesia syndromes in children by gathering information from different countries to see how these movement and seizure disorders are related.
-
Validation of a deep learning platform for diagnosing isolated dystonia
This study is testing a new deep learning tool to see if it can help doctors diagnose isolated dystonia more accurately and quickly.
-
Registry for Progressive Myoclonus Epilepsy Type 1
This study is trying to gather information and samples from people with Progressive Myoclonus Epilepsy Type 1 to better understand the disease and help develop future treatments.
-
Registry for patients with rare diseases
This study is creating a central registry for people with rare diseases to help connect them with researchers and improve treatments.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.