Myoclonus Clinical Trial
Official title:
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
NCT number | NCT00029965 |
Other study ID # | 020107 |
Secondary ID | 02-HG-0107 |
Status | Recruiting |
Phase | |
First received | |
Last updated | |
Start date | February 6, 2002 |
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.
Status | Recruiting |
Enrollment | 200 |
Est. completion date | |
Est. primary completion date | |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility | - INCLUSION CRITERIA: - Individuals greater than 6 months of age with GM1 or GM2 gangliosidosis documented by enzyme deficiency and/or mutation analysis in a CLIA-approved laboratory EXCLUSION CRITERIA: - Individuals who in the opinion of the principal investigator are too medically fragile to travel safely to the NIH for evaluation - Individuals unable to comply with the protocol |
Country | Name | City | State |
---|---|---|---|
United States | National Institutes of Health Clinical Center | Bethesda | Maryland |
Lead Sponsor | Collaborator |
---|---|
National Human Genome Research Institute (NHGRI) |
United States,
Cantor RM, Roy C, Lim JS, Kaback MM. Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. II. Sandhoff disease gene frequencies in American Jewish and non-Jewish populations. Am J Hum Genet. 1987 Jul;41(1):16-26. — View Citation
Myerowitz R, Hogikyan ND. Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease. Science. 1986 Jun 27;232(4758):1646-8. doi: 10.1126/science.3754980. — View Citation
Wada R, Tifft CJ, Proia RL. Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation. Proc Natl Acad Sci U S A. 2000 Sep 26;97(20):10954-9. doi: 10.1073/pnas.97.20.10954. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Exploring the natural history of Glycoprotein Disorders | Exploring the natural history of Glycoprotein Disorders | Assessed one to every two years | |
Primary | Natural history of Lysosomal Storage Diseases | Exploring the natural history of Lysosomal Storage Diseases | Assessed one to every two years |
Status | Clinical Trial | Phase | |
---|---|---|---|
Not yet recruiting |
NCT02518789 -
Effects and Mechanism of Pretreatment With Dexmedetomidine to Etomidate Induce Myoclonus
|
Phase 4 | |
Completed |
NCT04235452 -
Electrophysiological Characteristics and Anatomical Differentiation of Epileptic and Non-epileptic Myoclonus.
|
||
Completed |
NCT00001667 -
Genotype/Phenotype Correlation of Movement Disorders and Other Neurological Diseases
|
N/A | |
Not yet recruiting |
NCT05754762 -
Median Effective Dose of Remifentanil for the Prevention of Myoclonus Induced by Etomidate Injection
|
N/A | |
Completed |
NCT00244361 -
Effectiveness of Rituximab in Pediatric OMS Patients.
|
Phase 1/Phase 2 | |
Recruiting |
NCT05317390 -
Clinical Validation of DystoniaNet Deep Learning Platform for Diagnosis of Isolated Dystonia
|
N/A | |
Completed |
NCT00001663 -
Treatment of Cortical Myoclonus With Repetitive Transcranial Magnetic Stimulation
|
Phase 1 | |
Terminated |
NCT00506012 -
Pilot Efficacy Study of T2000 in Myoclonus Dystonia
|
Phase 2 |