Search / Trial NCT00001466

Study of Clinical and Molecular Manifestations of Genetic Disorders

Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · Dec 9, 2002

Trial Information

Current as of October 18, 2024

Completed

Keywords

Clinical Genetics Etiology Medical Screening Prognosis Genetic Disorders

Description

Individuals and their families affected by disorders with a potentially genetic basis within six broad categories will be evaluated over time to characterize the natural and clinical history of various specific disorders. Medical and laboratory evaluations will be completed to identify areas of management concern that have not been previously described. Further protocols will be developed addressing specific disorders once a number of affected individuals have been investigated and is sufficient to query various aspects of those disorders. Issues for both diagnosis and medical management of...

Gender

ALL

Eligibility criteria

  • Patients and their families with known or suspected genetic disorders within the following categories will be recruited:
  • Hereditary connective tissue disorders;
  • Phacomatoses;
  • Chromosomal disorders;
  • Dysmorphic syndromes;
  • Neuromuscular or neurological disorders;
  • Inherited immunological and hematologic disorders.

About National Human Genome Research Institute (Nhgri)

The National Human Genome Research Institute (NHGRI) is a prominent research organization within the National Institutes of Health (NIH) dedicated to advancing the field of genomics and its applications in health and medicine. NHGRI sponsors and conducts a wide range of clinical trials aimed at understanding the genetic basis of diseases, developing innovative genomic technologies, and translating genomic research into clinical practice. With a commitment to ethical research and collaboration, NHGRI plays a pivotal role in shaping the future of personalized medicine and improving patient outcomes through genomic discoveries.

Locations

Bethesda, Maryland, United States

People applied

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

Discussion 0