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Home > "D" Clinical Trials Conditions > Diagnostic and Screening Study of Genetic Disorders  Diagnostic and Screening Study of Genetic Disorders
Diagnostic and Screening Study of Genetic Disorders
For Condition: Leukodystrophy, Globoid Cell,Porphyria, Erythropoietic,Tay-Sachs Disease,Metabolism, Inborn Errors
Status: Completed
Sponsor(s): National Center for Research Resources (NCRR) , Mount Sinai Medical Center
Synopsis: 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.
Details: 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:
Study Type: Observational, Screening
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: - 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
Total Enrollment: 50
Location and Contact Information:
Overall Study Official:
JudithWillner, Study Chair, Mount Sinai Medical Center
Mount Sinai School of Medicine
New York City, New York, 10029
United States
Additional Information:
Study ID Numbers: 199/15151; MTS-GCO-88-459
Study Start Date: December 1999
Record last reviewed: April 2002
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00006057
Other Tay-Sachs Disease Studies:
1. Diagnostic and Screening Study of Genetic Disorders
Related Studies:
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Diagnostic and Screening Study of Genetic Disorders
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