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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COMPLETED
100 participants
OBSERVATIONAL
2009-08-31
2020-07-31
Brief Summary
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Detailed Description
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Participants who are evaluated at the study center will have a physical examination performed by a clinical geneticist and neuropsychological studies administered by the study psychologist. Neuropsychological studies assess intelligence, learning abilities, language skills, and ability to participate in day to day activities of life. Participants seen at the study center will have skeletal x-rays performed to evaluate the impact of the disease on the participant's bones.
Every participant will complete (or have a care provider complete for them)
* A questionnaire about their birth, development, and medical history
* An interview with study personnel (in person or via telephone)
* Follow up interviews on at least an annual basis to update the medical history
Each participant will be asked to
* Give a blood sample
* Give a urine sample
* Some participants may be asked to give a skin biopsy.
Conditions
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Study Design
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COHORT
OTHER
Interventions
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Non-interventional.
Eligibility Criteria
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Inclusion Criteria
* Aspartylglucosaminuria
* Fucosidosis
* Galactosialidosis
* alpha mannosidosis
* beta mannosidosis
* Mucolipidosis II
* Mucolipidosis III
* Schindler disease
* Sialidosis
Exclusion Criteria
ALL
No
Sponsors
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Greenwood Genetic Center
OTHER
Responsible Party
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Principal Investigators
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Sara Cathey, MD
Role: PRINCIPAL_INVESTIGATOR
Greenwood Genetic Center
Locations
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Greenwood Genetic Center
North Charleston, South Carolina, United States
Countries
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References
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Kerr DA, Memoli VA, Cathey SS, Harris BT. Mucolipidosis type III alpha/beta: the first characterization of this rare disease by autopsy. Arch Pathol Lab Med. 2011 Apr;135(4):503-10. doi: 10.5858/2010-0236-CR.1.
David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, Wilson M, McGill J, Edwards M, Munns C, Alcausin M, Cathey S, Sillence D. The natural history and osteodystrophy of mucolipidosis types II and III. J Paediatr Child Health. 2010 Jun;46(6):316-22. doi: 10.1111/j.1440-1754.2010.01715.x. Epub 2010 Mar 29.
Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet. 2010 Jan;47(1):38-48. doi: 10.1136/jmg.2009.067736. Epub 2009 Jul 16.
Related Links
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Greenwood Genetic Center
Other Identifiers
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GGC75
Identifier Type: -
Identifier Source: org_study_id
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