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Protocol Details

Hereditary Parkinson Disease Natural History Protocol

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts

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.

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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


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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.

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Contacts:

Principal Investigator

Referral Contact

For more information:

Derek P. Narendra, M.D.
National Heart, Lung and Blood Institute (NHLBI)



Rebecca D. Huffstutler, C.R.N.P.
National Heart, Lung and Blood Institute (NHLBI)
NIHBC 10 - CRC BG RM 5-1462
10 CENTER DR
BETHESDA MD 20892
(301) 594-1281
rebecca.huffstutler@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT02511015

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