Diagnostic and Screening Study of Genetic Disorders

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


      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



Tay-Sachs Disease


* 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


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




0 Years - 0 Years

Accepts Healthy Volunteers



Judith P. Willner, , 

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Secondary IDs


Study Sponsor

National Center for Research Resources (NCRR)


 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