Hereditary Parkinson s Disease Natural History Protocol
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT02511015|
Recruitment Status : Completed
First Posted : July 29, 2015
Last Update Posted : August 9, 2018
- 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.
- To better understand the genetic causes of EOPD.
- 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.
- 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.
|Condition or disease|
|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|
|Study Type :||Observational|
|Actual Enrollment :||31 participants|
|Official Title:||Hereditary Parkinson's Disease Natural History Protocol|
|Study Start Date :||July 28, 2015|
|Actual Primary Completion Date :||August 15, 2017|
|Actual Study Completion Date :||August 15, 2017|
- The primary objective of this study is to genetically define the combination of autosomal recessive genetic defects linked to EOPD and characterize their composite molecular and physiologic effect on cellular homeostasis and response to dopamine... [ Time Frame: 5 years ]
- The secondary objective is to evaluate whether these composite of these genetic defects and their effects on cellular quality control correlate to age of onset and disease penetrance in EOPD subjects. [ Time Frame: 5 years ]
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02511015
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Derek P Narendra, M.D.||National Institute of Neurological Disorders and Stroke (NINDS)|