Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
2 other identifiers
observational
200
1 country
1
Brief 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
1 active site
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Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
January 27, 2002
CompletedFirst Posted
Study publicly available on registry
January 28, 2002
CompletedStudy Start
First participant enrolled
February 6, 2002
CompletedApril 29, 2026
March 16, 2026
January 27, 2002
April 28, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
Exploring the natural history of Glycoprotein Disorders
Exploring the natural history of Glycoprotein Disorders
Assessed one to every two years
Natural history of Lysosomal Storage Diseases
Exploring the natural history of Lysosomal Storage Diseases
Assessed one to every two years
Study Arms (2)
Glycoprotein Disorders
Glycoprotein Disorders
Lysosomal Storage Diseases
Lysosomal Storage Diseases
Eligibility Criteria
Patients with Lysosomal Storage Diseases and Glycoprotein Disorders.
You may qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
Related Publications (6)
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.
PMID: 11005868BACKGROUNDCantor 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.
PMID: 2955697BACKGROUNDMyerowitz 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.
PMID: 3754980BACKGROUNDHan ST, Hirt A, Nicoli ER, Kono M, Toro C, Proia RL, Tifft CJ. Gene expression changes in Tay-Sachs disease begin early in fetal brain development. J Inherit Metab Dis. 2023 Jul;46(4):687-694. doi: 10.1002/jimd.12596. Epub 2023 Feb 5.
PMID: 36700853DERIVEDLuckett A, Yousef M, Tifft C, Jenkins K, Smith A, Munoz A, Quimby R, Porter FD, Dang Do AN. Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis. Am J Med Genet A. 2023 Mar;191(3):711-717. doi: 10.1002/ajmg.a.63064. Epub 2022 Dec 2.
PMID: 36461157DERIVEDDaich Varela M, Zein WM, Toro C, Groden C, Johnston J, Huryn LA, d'Azzo A, Tifft CJ, FitzGibbon EJ. A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot. Br J Ophthalmol. 2021 Jun;105(6):838-843. doi: 10.1136/bjophthalmol-2020-316826. Epub 2020 Aug 4.
PMID: 32753397DERIVED
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Cynthia J Tifft, M.D.
National Human Genome Research Institute (NHGRI)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- NIH
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
January 27, 2002
First Posted
January 28, 2002
Study Start
February 6, 2002
Last Updated
April 29, 2026
Record last verified: 2026-03-16