An observational study in Tay-Sachs Disease, Porphyria, Erythropoietic and Leukodystrophy, Globoid Cell, sponsored by National Center for Research Resources (NCRR). Completed at 1 site in United States. Open to participants aged 0 Years and older. Per ClinicalTrials.gov, last updated 2005-06-24.
Sponsored by National Center for Research Resources (NCRR) · Observational
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.
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.
24 studies on the registry are indexed under Tay-Sachs Disease; 4 are open to participants now.
Browse Tay-Sachs Disease studies →National Center for Research Resources (NCRR) is the lead sponsor of 265 studies on the registry; none are open to participants now.
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This study is completed, as verified in Apr 2002. You cannot join it, but the record below documents what was studied.
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