Hereditary Parkinson s Disease Natural History Protocol

NCT02511015 | Completed

• 2 other identifiers: 15015515-H-0155
• Study Type: observational
• Target: 31
• Locations: 1 country
• Sites: 1

Brief 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 (Autosomal Recessive, Early Onset) 7, Human; Parkinson Disease 6, Early-Onset; Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1; Parkinson Disease Autosomal Recessive, Early Onset

Keywords

Early Onset Parkinson's Disease; Cellular Quality Control Programs; Mitochondria; Neuroinflammation; Immunology; Natural History

Outcome Measures

Primary Outcomes (1)

• 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...

  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 dopaminergic stressors.

  5 years

Secondary Outcomes (1)

• 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.

  5 years

Study Arms (3)

Family Member Control Subjects

Family members, of enrolled EOPD subjects, who themselves do not have Parkinson disease or Parkinsonism can be enrolled as controls on this study.

Healthy Control Subjects

Age 18 years to 80 years old with no history or family history of Parkinson disease or Parkinsonism.

Parkinson Subjects

Age 18 years to 80 years old with a history of early onset Parkinson disease or Parkinsonism (Presentation within the first five decades of life).

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects that develop symptoms of Parkinson Disease within the first 5 decades of life would be enrolled onto this protocol. Additionally, subjects previously enrolled on protocol 12-H-0084 may also be enrolled on this protocol. Age (+/- 5 yrs) and gender matched healthy volunteers will be recruited as controls for this protocol. Controls will be recruited via web advertisements. An email advertisement will also be sent out via the NIH LISTSERV to aid in the recruitment of healthy volunteers. A list of healthy volunteers may also be requested from the NIH Office of Patient Recruitment. Family member controls without clinical evidence of Parkinsonism may be recruited as controls for index research subjects.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• National Heart, Lung, and Blood Institute (NHLBI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• 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. doi: 10.1016/S1474-4422(07)70174-6.

  PMID: 17582365 BACKGROUND

• Greenamyre JT, Hastings TG. Biomedicine. Parkinson's--divergent causes, convergent mechanisms. Science. 2004 May 21;304(5674):1120-2. doi: 10.1126/science.1098966. No abstract available.

  PMID: 15155938 BACKGROUND

• Arbuthnott GW, Wickens J. Space, time and dopamine. Trends Neurosci. 2007 Feb;30(2):62-9. doi: 10.1016/j.tins.2006.12.003. Epub 2006 Dec 13.

  PMID: 17173981 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Parkinson Disease 6, Autosomal Recessive Early-Onset; Parkinson Disease; Parkinsonian Disorders; Neuroinflammatory Diseases

Condition Hierarchy (Ancestors)

Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases; Inflammation; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Derek P Narendra, M.D.

  National Heart, Lung, and Blood Institute (NHLBI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 28, 2015
• First Posted: July 29, 2015
• Study Start: July 8, 2015
• Primary Completion: April 7, 2016
• Study Completion: August 15, 2017
• Last Updated: April 24, 2026

Record last verified: 2025-09-19

Locations

US (1)