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Completed
NCT02511015
Hereditary Parkinson s Disease Natural History Protocol
Conditions: Parkinson Disease 6, Early-Onset, Parkinson Disease (Autosomal Recessive, Early Onset) 7, Human, Parkinson Disease Autosomal Recessive, Early Onset, Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1
Sex: All
Ages: 18 Years – 80 Years
Healthy volunteers: No
Enrollment: 31
Sponsor: National Heart, Lung, and Blood Institute (NHLBI)
Location: National Institutes of Health Clinical Center Bethesda Maryland
Summary
Background:
\- Parkinson s disease is a disease of the nervous system that affects movement. People usually get it in their 70s or 80s. Early onset Parkinson s disease (EOPD) begins before the age of 50. Researchers think EOPD may be caused by a mutation in a gene. They want to study the genetic causes so they can find therapies for this disease.
Objective:
\- To better understand the genetic causes of EOPD.
Eligibility:
* Adults ages 18 80 with a history of EOPD. Their family members, who do not have Parkinson s disease, can join as controls.
* Healthy volunteers ages 18 80.
Design:
* Participants with EOPD and their relatives will be screened with a review of medical records. Healthy volunteers will have medical history, physical exam, and blood drawn.
* Relatives may send blood samples to NIH to test for mutations in genes that are linked to Parkinson s disease. They may have a physical exam.
* Participants may be asked to return to clinic for another visit that can last up to 2 hours.
* During this visit, participants will have blood taken from a vein in the arm via a needle stick.
* Participants may give a sample of their skin. The skin on the arm or leg will be numbed and a small skin punch biopsy will be taken with a special needle.
* Some cells from the blood or skin sample may be grown in a lab to establish cell lines. The cells may also potentially be genetically modified to make stem cells.
* Researchers may perform genetic analysis on the samples to compare them to EOPD patient samples.
Eligibility Criteria
* INCLUSION CRITERIA
Parkinson's Subjects
\- Age 18 years to 80 years old with a history of early onset Parkinson's disease or Parkinsonism (Presentation within the first five decades of life).
Healthy Control Subjects
\- Age 18 years to 80 years old with no history or family history of Parkinson's disease or Parkinsonism.
Family Member Control Subjects
-Family members, of enrolled EOPD subjects, who themselves do not have Parkinson's disease or Parkinsonism can be enrolled as controls on this study.
All Subjects
* Willingness and legal ability to give and sign informed study consent
* Willingness to have blood or tissue samples studied, and potentially stored for future research
EXCLUSION CRITERIA
All Subjects
* Subjects who are unable or unwilling to sign an informed consent
* Subjects with genetic defects associated with diseases including other neurologic syndromes.
* Pregnancy
Source: ClinicalTrials.gov (NCT02511015). StuddyBuddy aggregates publicly available trial information.