This study is NOT currently recruiting participants.
Number
15-H-0155
Sponsoring Institute
National Heart, Lung and Blood Institute (NHLBI)
Recruitment Detail
Type: Completed Study; data analyses ongoing Gender: Male & Female Min Age: 18 Max Age: 80
Referral Letter Required
No
Population Exclusion(s)
Children
Keywords
Early Onset Parkinson's Disease; Cellular Quality Control Programs; Mitochondria; Neuroinflammation; Immunology; Natural History
Recruitment Keyword(s)
None
Condition(s)
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
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Heart, Lung, and Blood Institute
- 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.
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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
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
- Subjects who are unable or unwilling to sign an informed consent
- Subjects with genetic defects associated with diseases including other neurologic syndromes.
- Pregnancy
Principal Investigator
Referral Contact
For more information: