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Diagnostic and Screening Study of Genetic Disorders

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT00006057
First Posted: July 6, 2000
Last Update Posted: December 9, 2005
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Collaborator:
Icahn School of Medicine at Mount Sinai
Information provided by:
National Center for Research Resources (NCRR)
  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

Resource links provided by NLM:


Further study details as provided by National Center for Research Resources (NCRR):

Estimated Enrollment: 50
Study Start Date: December 1999
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.

  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00006057


Locations
United States, New York
Mount Sinai School of Medicine
New York, New York, United States, 10029
Sponsors and Collaborators
National Center for Research Resources (NCRR)
Icahn School of Medicine at Mount Sinai
Investigators
Study Chair: Judith P. Willner Icahn School of Medicine at Mount Sinai
  More Information

ClinicalTrials.gov Identifier: NCT00006057     History of Changes
Other Study ID Numbers: 199/15151
MTS-GCO-88-459
First Submitted: July 5, 2000
First Posted: July 6, 2000
Last Update Posted: December 9, 2005
Last Verified: April 2002

Additional relevant MeSH terms:
Tay-Sachs Disease
Porphyrias
Metabolism, Inborn Errors
Leukodystrophy, Globoid Cell
Porphyria, Erythropoietic
Metabolic Diseases
Genetic Diseases, Inborn
Gangliosidoses, GM2
Gangliosidoses
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Lipid Metabolism Disorders
Hereditary Central Nervous System Demyelinating Diseases
Leukoencephalopathies
Demyelinating Diseases
Skin Diseases, Genetic
Skin Diseases