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NCT00029965 · ClinicalTrials.gov registry record
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
A clinical trial of Myoclonus and Neurological Regression, sponsored by National Human Genome Research Institute (NHGRI).
- Recruiting
- Registry status
- 200
- Enrollment target
- 1
- Study location
NCT00029965: Recruiting study of Myoclonus and Neurological Regression, sponsored by National Human Genome Research Institute (NHGRI).
NCT00029965 is a study of Myoclonus and Neurological Regression that is actively recruiting participants, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 200 participants, below the 600-participant average among 3 other Myoclonus trials with a reported enrollment target (67% lower). The trial reports 1 study location across 1 state. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT00029965, a study of Myoclonus and Neurological Regression, is actively recruiting participants, sponsored by National Human Genome Research Institute (NHGRI).
- RECRUITING
- Registry status
- 200 participants
- Enrollment target
- 1
- Study location
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.
Primary Outcome
Exploring the natural history of Glycoprotein Disorders
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 |
What NCT00029965 shows while recruiting
NCT00029965 is an observational study that tracks outcomes without assigning an intervention. The registered 200 participants enrollment target is mid-sized for trials with a published cap, below the 600-participant average among 3 other Myoclonus trials with a reported enrollment target (67% lower).
The record links to 4 conditions, with Myoclonus appearing as the primary indexed condition, and to 0 interventions.
NCT00029965 reports a single indexed study location in Maryland.
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.
Who is sponsoring clinical trial NCT00029965?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
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.
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