Search / Trial NCT00001643

Gene Analysis of Parkinson's Disease

Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · Nov 3, 1999

Trial Information

Current as of December 26, 2024

Completed

Keywords

Lewy Body Mutation Hereditary Dominant Sporadic Parkinson's Disease

ClinConnect Summary

Mutational analysis in patients with Parkinson's disease and a positive family history will be undertaken in an effort to identify and better understand the function of defective genes that cause Parkinson's disease in these individuals. DNA from these individuals is an important resource for screening candidate genes for mutations, for confirming that genes identified by other approaches are altered in patients, and for defining the mutational spectrum in these genes (genotype/phenotype correlation).

Unrelated, anonymous normal individuals will serve as controls for sequence comparisons. ...

Gender

ALL

Eligibility criteria

  • * INCLUSION CRITERIA:
  • Individuals over the age of 18 from families in which there are three or more individuals affected with Parkinson's disease (within three generations) and the proband was the only affected person available or willing to participate in the study
  • The diagnosis must be supported by accepted clinical criteria: tremor, bradykinesia, and responsiveness to L-DOPA.
  • PD may be associated with dementia. The study will lose power if individuals with mental impairment and PD are excluded. For this reason, decisionally-impaired individuals will be enrolled.
  • EXCLUSION CRITERIA:
  • No one under 18 will be enrolled because, with the exception of the rare autosomal recessive PD due to parkin mutations, PD does not affect minors. Study design does not involve testing fetuses.

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

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