Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders (NCT00029965) | Clinical Trial Compass
RecruitingNot Applicable
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
United States200 participantsStarted 2002-02-06
Plain-language 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.
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Who can participate
Age range
1 Day – 100 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
* 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.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Since this is a natural history study rather than a treatment trial, what does my participation actually involve — like tests, visits, and observations — and would it help researchers understand my specific condition like glycosphingolipid storage disorder or glycoprotein disorder better over time?
2My symptoms include things like neurological regression or myoclonus — how would joining this study affect my current treatment plan, and is there any risk that participating could delay access to therapies that might actually treat my condition?
3Because this study is focused on tracking how these diseases progress rather than testing a new drug, what practical information might my family and I gain from our participation, and how long would we likely need to stay involved?
4Given that lysosomal storage diseases can progress, are there any standard-of-care treatments or other clinical trials testing actual therapies that I should be considering at the same time as, or instead of, enrolling in a natural history study like this one?
5What kinds of evaluations or tests would I need to undergo as part of this study — for example, brain imaging given the mention of brain atrophy, or neurological assessments — and how frequently would those visits happen?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Exploring the natural history of Glycoprotein Disorders
Timeframe: Assessed one to every two years
2
Natural history of Lysosomal Storage Diseases
Timeframe: Assessed one to every two years
Trial details
NCT IDNCT00029965
SponsorNational Human Genome Research Institute (NHGRI)