Medical Information Only. Always consult your healthcare provider before enrolling in any clinical trial.
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
NCT00029965 · View on ClinicalTrials.gov ↗
Study Summary
Study description: This is a natural history study that will evaluate any patient with enzyme or DNA confirmed GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis. Patients may be evaluated every 6 months for infantile onset disease, yearly for juvenile onset and approximately every two years for adult-onset disease as long as they are clinically stable to travel. Data will be evaluated serially for each patient, and cross-sectionally for patients of similar ages and genotypes. Genotype-phenotype correlations will be made where possible although these are rare disorders and the majority of the patients are compound heterozygotes. Objectives: To study the natural history and progression of neurodegeneration in individuals with glycosphingolipid storage disorders (GSL), GM1 and GM2 gangliosidosis, and glycoprotein (GP) disorders including sialidosis and galactosialidosis using clinical evaluation of patients and patient/parent surveys. To develop sensitive tools for monitoring disease progression. To identify biological markers in blood, cerebrospinal fluid, and urine that correlate with disease severity and progression and can be used as outcome measures for future clinical trials. To further understand and characterize the mechanisms of neurodegeneration in GSL and GP storage disorders across the spectrum of disease beginning with ganglioside storage in fetal life. Endpoints: Exploring the natural history of Lysosomal Storage Diseases and Glycoprotein Disorders Study Population: Patients with enzyme or DNA confirmed GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis. Accrual ceiling is 200 participants. No exclusions based on age, gender, demographic group, or demographic location. Patients included in our study are those that are seen at the NIH Clinical Center, subjects that have only sent in blood samples, as well as those who complete the questionnaire or provided head circumference measures.
Conditions Studied
Study Locations (1)
Maryland
- National Institutes of Health Clinical Center — Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 200 participants |
| Start Date | 2002-02-06 |
Interested in This Trial?
Always speak with your doctor before enrolling in a clinical trial.
Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00029965
The ClinicalTrials.gov registry entry for NCT00029965 describes a study currently listed as recruiting. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 200 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Human Genome Research Institute (NHGRI), which has 242 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 4 conditions, with Myoclonus appearing as the primary indexed condition, and to 0 interventions. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT00029965 reports 1 study location spanning 1 distinct geographic area — top geographies include Maryland. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT00029965 about?
NCT00029965 is a clinical study titled "Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders". Study description: This is a natural history study that will evaluate any patient with enzyme or DNA confirmed GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis. Patients may be evaluated every 6 months for infantile onset disease, yearly for juvenile onset and approximately every two year...
What is the current status of trial NCT00029965?
This trial is currently recruiting. The enrollment target is 200 participants. The study started on 2002-02-06.
What conditions does trial NCT00029965 study?
This clinical trial studies the following conditions: Myoclonus, Neurological Regression, Cherry Red Spot, Brain Atrophy. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT00029965?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 242 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT00029965 being conducted?
This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
Learn More About Clinical Trials
How Clinical Trials Work
Understand phases 1-4, trial design, randomization, and the informed consent process.
Patient Rights in Clinical Trials
Your rights as a participant: consent, withdrawal, privacy, and who to contact.
Finding the Right Clinical Trial
A practical guide to searching trials, understanding eligibility, and evaluating options.
All Guides
Browse our complete library of clinical trial educational resources.
Read our methodology — how this data is sourced, computed, and verified.