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Understanding Parkinson's Disease with PRKN and PINK1 Gene Changes

This observational study aims to better understand how Parkinson's disease (a brain disorder that affects movement) progresses, especially in people with specific gene changes (PRKN and PINK1). Researchers will collect information and biological samples from people with different types of Parkinson's disease, including those with PRKN- and PINK1-linked Parkinson's, and healthy volunteers. The main goal is to track how motor symptoms (problems with movement) change over time. You may be able to join if you are between 18 and 80 years old and have Parkinson's disease or are a healthy volunteer. The study is currently recruiting participants.

Study design
This is an observational study, meaning participants will be monitored over time without receiving any specific intervention. The study plans to enroll 70 participants.
What's involved
You would have 6 clinic visits over 5 years, with each visit potentially lasting 1 to 3 days. During each visit, you will have a physical exam.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoint measures progression of motor symptoms when the final patient completes their last visit, indicating long-term follow-up.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT07613112

Longitudinal Natural History Protocol for PRKN- and PINK1-Linked PD

Not Yet Recruiting
Not specifiedAges 18+Observational
National Institute of Neurological Disorders and Stroke (NINDS)
~70 participants
Updated 2026-08-13 on ClinicalTrials.gov

At a glance

Recruiting sites
0 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Estimation of progression of motor symptoms across cohorts
Measured over When final patient completes their last visit

Conditions

PARKINSON DIS

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NCT07613112

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • National Institutes of Health Clinical Center

    Bethesda, Marylandstudy coordinator listed

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Debra J Ehrlich, M.D. · PRINCIPAL_INVESTIGATOR · National Institute of Neurological Disorders and Stroke (NINDS)

Who to contact

Oday K Halhouli, M.D.
[email protected]
(301) 402-7969
Email the study team

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Eligibility criteria

Inclusion

Stated willingness to comply with all study procedures and availability for the duration of the study
Male or female between the ages of 18-80 years old
Ability of subject to understand and the willingness to sign an informed consent document
Ability of subject to travel to the NIH Clinical Center
Established clinical diagnosis of Parkinson's disease
Two Pathogenic or likely pathogenic variants in PRKN or PINK1
Established clinical diagnosis of Parkinson's disease
One Pathogenic or likely pathogenic variant in PRKN and/or PINK1
Established clinical diagnosis of Parkinson's disease
Etiology of PD is idiopathic/sporadic based on investigator determination
One or two pathogenic or likely pathogenic variant in PRKN and/or PINK1
Lack of clinical diagnosis of Parkinson's disease
Lack of current or clinically significant neurological disorder (based on investigator determination)
Lack of current or clinically significant neurological disorder (based on investigator determination)
Contraindications to MRI such as a contraindicated non-removable metal device (i.e., pacemaker, defibrillator, insulin pump, metal clips, non-removable jewelry)
Pregnancy
Non ambulatory
PT/PTT values that are prolonged greater than or equal to 3 seconds from the upper limit of normal (including treatment with oral and parenteral anticoagulants)
INR greater than 1.4, thrombocytopenia (\<70,000), or abnormal bleeding time or platelet dysfunction
History of a bleeding disorder
Use of anticoagulants or antiplatelets
Pregnancy
History of headache requiring blood patch after a previous LP
PT/PTT values that are prolonged greater than or equal to 3 seconds from the upper limit of normal (including treatment with oral and parenteral anticoagulants)
INR greater than 1.4, thrombocytopenia (\<70,000), or abnormal bleeding time or platelet dysfunction
History of a bleeding disorder
Use of anticoagulants or antiplatelets
Pregnancy

Exclusion

Symptomatic PD syndromes due to drugs (e.g., metoclopramide, flunarizine, neuroleptics), metabolic disorders (e.g., Wilson's disease hypothyroidism), encephalitis, brain lesion, atypical parkinsonism, other monogenic forms of PD (e.g., GBA1, LRRK2, SNCA, VPS35, CHCHD2, DJ1, ATP13A2) other genetic disorders that may cause parkinsonism (e.g., spinocerebellar ataxia, X-linked dystonia parkinsonism)
Pregnancy at time of study enrollment
Any other reason that, in the opinion of the investigator, would render the participant unsuitable for study enrollment
Unwilling to allow samples or data to be shared with other researchers or institutions.
NIH staff or family members of study team members
Participants who become pregnant during the study will be withdrawn from further study procedures at the time pregnancy is identified.

What this trial measures

  • Estimation of progression of motor symptoms across cohortsWhen final patient completes their last visit

    Measured by annual change in MDS Unified Parkinson's Disease Rating Scale (MDS-UPDRS) Part III