Diagnostic and Screening Study of Genetic Disorders
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Purpose
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 |
|---|
|
Tay-Sachs Disease Porphyria, Erythropoietic Leukodystrophy, Globoid Cell Metabolism, Inborn Errors |
| Study Type: | Observational |
| Study Design: | Primary Purpose: 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.
Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
- Suspected diagnosis (homozygous or heterozygous) of a genetic disorder including, but not limited to, one of the following: Tay-Sachs disease (adult form) Congenital erythropoietic porphyria Galactosemia Mitochondrial myopathy Globoid cell leukodystrophy (Krabbe disease) Methylmalonic acidemia Isovaleric acidemia Morquio type A Glycogen storage disease type 1AB Ornithine aminotransferase deficiency Ceroid lipofuscinosis Glutaric aciduria type 1 Citrullinemia Other malformation syndromes, lysosomal storage disorders, or peroxisomal disorders
Contacts and Locations| 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 |
More Information
No publications provided
| ClinicalTrials.gov Identifier: | NCT00006057 History of Changes |
| Other Study ID Numbers: | 199/15151, MTS-GCO-88-459 |
| Study First Received: | July 5, 2000 |
| Last Updated: | June 23, 2005 |
| Health Authority: | United States: Federal Government |
Additional relevant MeSH terms:
|
Leukodystrophy, Globoid Cell Metabolism, Inborn Errors Porphyrias Porphyria, Erythropoietic Tay-Sachs Disease Hereditary Central Nervous System Demyelinating Diseases Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases Sphingolipidoses Lysosomal Storage Diseases, Nervous System |
Leukoencephalopathies Demyelinating Diseases Genetic Diseases, Inborn Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders Skin Diseases, Metabolic Skin Diseases Skin Diseases, Genetic Gangliosidoses, GM2 Gangliosidoses |
ClinicalTrials.gov processed this record on May 19, 2013