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Sponsors and Collaborators: |
National Center for Research Resources (NCRR) Mount Sinai School of Medicine |
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Information provided by: | National Center for Research Resources (NCRR) |
ClinicalTrials.gov Identifier: | NCT00006057 |
OBJECTIVES: I. Determine the phenotypic heterogeneity of patients with genetic disorders including their clinical spectrum and natural history.
II. Develop and evaluate novel methods for the treatment of genetic disorders including metabolic manipulation, enzyme manipulation, enzyme replacement, enzyme transplantation, and gene transfer techniques in these patients.
III. Develop and evaluate methods for the prenatal diagnosis of genetic disorders using improved cytogenetic, biochemical, and nucleic acid techniques and amniotic fluid cells or chorionic villi in these patients.
Condition |
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Tay-Sachs Disease Porphyria, Erythropoietic Leukodystrophy, Globoid Cell Metabolism, Inborn Errors |
Study Type: | Observational |
Study Design: | Screening |
Estimated Enrollment: | 50 |
Study Start Date: | December 1999 |
PROTOCOL OUTLINE:
Patients are evaluated annually or biannually, depending on disease status and progression. Patients undergo a complete medical history, an extensive family pedigree, and a physical examination. Patients undergo general laboratory, imaging, physiologic, and clinical laboratory studies according to their disease type. Patients undergo specialized laboratory studies including plasma and leukocyte enzyme assays, quantitative urinary mucopolysaccharides and oligosaccharides, urine and plasma glycolipids, plasma and urine amino acids, urine organic acids, lymphoblastoid culture, DNA isolation from peripheral leukocytes, skin biopsy for fibroblast culture (if indicated), and medical photography. Patients also receive consultations with various specialties including ophthalmology, ENT, cardiology, pulmonary, gastroenterology/nutrition, hematology, neurology, orthopedics, rehabilitation medicine/physical therapy, and dermatology.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
United States, New York | |
Mount Sinai School of Medicine | |
New York, New York, United States, 10029 |
Study Chair: | Judith P. Willner | Mount Sinai School of Medicine |
Study ID Numbers: | 199/15151, MTS-GCO-88-459 |
Study First Received: | July 5, 2000 |
Last Updated: | June 23, 2005 |
ClinicalTrials.gov Identifier: | NCT00006057 |
Health Authority: | United States: Federal Government |
Lipid Metabolism, Inborn Errors Gangliosidosis (GM2) Type1 Sphingolipidoses Porphyrias Demyelinating diseases Porphyria, congenital erythropoietic Tay-Sachs disease Brain Diseases Leukodystrophy Krabbe leukodystrophy Metabolism, Inborn Errors Brain Diseases, Metabolic, Inborn Porphyria, Erythropoietic Tay-Sachs Disease Skin Diseases, Genetic |
Leukodystrophy, Globoid Cell Metabolic Diseases Demyelinating Diseases Skin Diseases Lysosomal Storage Diseases Sphingolipidosis Central Nervous System Diseases Genetic Diseases, Inborn Gangliosidoses, GM2 Lipidoses Metabolic disorder Gangliosidoses Brain Diseases, Metabolic Lipid Metabolism Disorders |
Skin Diseases, Metabolic Lysosomal Storage Diseases, Nervous System Nervous System Diseases Hereditary Central Nervous System Demyelinating Diseases |