Brief Title
Diagnostic and Screening Study of Genetic Disorders
Brief Summary
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.
Detailed Description
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.
Study Type
Observational
Condition
Tay-Sachs Disease
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Estimated Enrollment
50
Start Date
December 1999
Eligibility 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
Gender
All
Ages
N/A - N/A
Accepts Healthy Volunteers
No
Contacts
Judith P. Willner, ,
Location Countries
United States
Location Countries
United States
Administrative Informations
NCT ID
NCT00006057
Organization ID
199/15151
Secondary IDs
MTS-GCO-88-459
Study Sponsor
National Center for Research Resources (NCRR)
Collaborators
Icahn School of Medicine at Mount Sinai
Study Sponsor
Judith P. Willner, Study Chair, Icahn School of Medicine at Mount Sinai
Verification Date
April 2002