Protocol Details
Hereditary Parkinson Disease Natural History Protocol
This study is NOT currently recruiting participants.
Summary
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) |
None |
Investigational Device(s) |
None |
Intervention(s) |
None |
Supporting Site |
National Heart, Lung, and Blood Institute |
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
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
Citations:
Klein C, Lohmann-Hedrich K, Rogaeva E, Schlossmacher MG, Lang AE. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol. 2007 Jul;6(7):652-62.
Greenamyre JT, Hastings TG. Biomedicine. Parkinson's--divergent causes, convergent mechanisms. Science. 2004 May 21;304(5674):1120-2.
Arbuthnott GW, Wickens J. Space, time and dopamine. Trends Neurosci. 2007 Feb;30(2):62-9. Epub 2006 Dec 13.
Contacts:
Clinical Trials Number:
NCT02511015