Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
NCT ID: NCT00029965
Last Updated: 2025-12-26
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
200 participants
OBSERVATIONAL
2002-02-06
Brief Summary
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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.
Detailed Description
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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.
Conditions
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Keywords
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Glycoprotein Disorders
Glycoprotein Disorders
No interventions assigned to this group
Lysosomal Storage Diseases
Lysosomal Storage Diseases
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
* Individuals unable to comply with the protocol
1 Day
100 Years
ALL
No
Sponsors
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National Human Genome Research Institute (NHGRI)
NIH
Responsible Party
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Principal Investigators
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Cynthia J Tifft, M.D.
Role: PRINCIPAL_INVESTIGATOR
National Human Genome Research Institute (NHGRI)
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States
Countries
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Central Contacts
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Facility Contacts
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For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
Role: primary
References
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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.
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.
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.
Han 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.
Luckett 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.
Daich 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.
Related Links
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NIH Clinical Center Detailed Web Page
Other Identifiers
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02-HG-0107
Identifier Type: -
Identifier Source: secondary_id
020107
Identifier Type: -
Identifier Source: org_study_id