Following people with GM1 or GM2 gangliosidosis and related rare storage disorders over time
Tracks how nerve damage develops in people with GM1, GM2, sialidosis or galactosialidosis.
Plain-language title generated from the registry record
Registry title: Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Key facts
- Where
- Bethesda, United StatesSee the site
Where in United States
- National Institutes of Health Clinical CenterBethesda, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- National Human Genome Research Institute (NHGRI)
- Trial code
- NCT00029965
- Record updated
- 9 November 2026
- Original description
Study description:Read full original descriptionShow less
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 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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Exclusion: 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.
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.