NCT00006057

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.

Trial Health

80
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
50

participants targeted

Target at P25-P50 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

December 1, 1999

Completed
7 months until next milestone

First Submitted

Initial submission to the registry

July 5, 2000

Completed
1 day until next milestone

First Posted

Study publicly available on registry

July 6, 2000

Completed
Last Updated

June 24, 2005

Status Verified

April 1, 2002

First QC Date

July 5, 2000

Last Update Submit

June 23, 2005

Conditions

Tay-Sachs DiseasePorphyria, ErythropoieticLeukodystrophy, Globoid CellMetabolism, Inborn Errors

Eligibility Criteria

Age0 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
* 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

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

Study Sites (1)

Mount Sinai School of Medicine

New York, New York, 10029, United States

Location

MeSH Terms

Conditions

Tay-Sachs DiseasePorphyria, ErythropoieticLeukodystrophy, Globoid CellMetabolism, Inborn Errors

Condition Hierarchy (Ancestors)

Gangliosidoses, GM2GangliosidosesSphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLipidosesLipid Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesLipid Metabolism DisordersSkin Diseases, GeneticSkin DiseasesSkin and Connective Tissue DiseasesPorphyriasHereditary Central Nervous System Demyelinating DiseasesLeukoencephalopathiesDemyelinating Diseases

Study Officials

  • Judith P. Willner

    Icahn School of Medicine at Mount Sinai

    STUDY CHAIR

Study Design

Study Type
observational
Sponsor Type
NIH

Study Record Dates

First Submitted

July 5, 2000

First Posted

July 6, 2000

Study Start

December 1, 1999

Last Updated

June 24, 2005

Record last verified: 2002-04

Locations

US(1)