Hereditary Parkinson s Disease Natural History Protocol
NCT02511015 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 31
Last updated 2026-04-24
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.
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
Sponsors & Collaborators
-
National Heart, Lung, and Blood Institute (NHLBI)
lead NIH
Principal Investigators
-
Derek P Narendra, M.D. · National Heart, Lung, and Blood Institute (NHLBI)
Eligibility
- Min Age
- 18 Years
- Max Age
- 80 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2015-07-08
- Primary Completion
- 2016-04-07
- Completion
- 2017-08-15
Countries
- United States
Study Locations
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