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

NCT07613112 | Not Yet Recruiting

• 2 other identifiers: 10002619002619-N
• Study Type: observational
• Target: 70
• Locations: 1 country
• Sites: 1

Brief Summary

Background: Parkinson s disease is a neurologic disorder that affects movement. Its cause is unknown, and it usually begins later in life. Gene changes (PRKN and PINK1) can also cause rare types of Parkinson s disease that start at a young age. Researchers want to conduct a natural history study to learn more about how genes play a role in Parkinson s disease. Objective: To collect data and biological samples from people with different types of Parkinson s disease. Eligibility: People aged 18 to 80 years with either Parkinson s disease or PRKN- and PINK1-linked Parkinson s disease. Healthy volunteers are also needed. Design: Participants will have 6 clinic visits over 5 years. Each visit may take 1 to 3 days. During each visit: Participants will have a physical exam. The exam will be videotaped. They will answer questions about their movement, thinking, mood, and sense of smell. The extent of any symptoms of Parkinson s disease will be evaluated: Participants movements may be assessed with a finger tapping test. They may be asked to scratch and sniff different scented strips to identify odors. They will wear motion sensors on their arms, legs, chest, and back at the clinic. They will wear motion sensor devices on their wrists at home for 1 week. Blood and urine samples will be collected. Other tests are optional: Magnetic resonance imaging (MRI) scan of the brain. Participants will lie on a table that slides into a tube. Lumbar puncture (spinal tap). A thin needle will be inserted into their lower back to draw out a sample of the fluid around their spinal cord. Muscle biopsy. A small sample of tissue will be taken from the leg.

Conditions

PARKINSON DIS

Keywords

PINK1; PRKN; PARKINSON

Outcome Measures

Primary Outcomes (1)

• Estimation of progression of motor symptoms across cohorts

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

  When final patient completes their last visit

Secondary Outcomes (16)

• Annual change in MDS-UPDRS parts I, II, IV

  When final patient completes their last visit

• Annual change in Montreal Cognitive Assessment (MoCA)

  When final patient completes their last visit

• Annual change in Timed up and go (TUG)

  When final patient completes their last visit

• Annual change in 10-meter walk

  When final patient completes their last visit

• Annual change in 360 degree turn

  When final patient completes their last visit

Study Arms (5)

Healthy controls

Lack of current or clinically significant neurological disorder (based on investigator determination).

Non-manifesting mito

participants who carry one or two pathogenic variants in PRKN and/or PINK1 but do not have a diagnosis of PD

PD idiopathic

PD participants with idiopathic PD

PD mito - monoallelic

Monoallelic: PD participants carrying one pathogenic mono-allelic variant in PRKN and/or PINK1

PD mito - biallelic

Biallelic: PD participants carrying two pathogenic variants in PRKN or PINK1

Eligibility Criteria

• Age: 18 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

There will be a total of up to 50 male or female participants 18- 80 years of age and older in 5 cohorts. Target number of completers for each cohort are listed below: - PD mito-biallelic (PD participants carrying two pathogenic variants in PRKN or PINK1): up to 15 - PD mito-monoallelic (PD participants carrying one pathogenic mono-allelic variant in PRKN and/or PINK1): up to 10 - PD idiopathic: up to 5 - Non-manifesting mito (participants who carry one or two pathogenic variants in PRKN and/or PINK1 but do not have a diagnosis of PD): up to 15 - Healthy controls: up to 5

You may qualify if:

• To be eligible to participate in this study, an individual must meet all of the following criteria:
• All participants:
• 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
• PD Mito - Biallelic:
• Established clinical diagnosis of Parkinson's disease
• Two Pathogenic or likely pathogenic variants in PRKN or PINK1
• PD Mito - Monoallelic:
• Established clinical diagnosis of Parkinson's disease
• One Pathogenic or likely pathogenic variant in PRKN and/or PINK1
• Idiopathic Parkinson's Disease (PD):
• Established clinical diagnosis of Parkinson's disease
• Etiology of PD is idiopathic/sporadic based on investigator determination

You may not qualify if:

• An individual who meets any of the following criteria will be excluded from participation in this study:
• All participants:
• 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
• Healthy Volunteer:
• Participants who become pregnant during the study will be withdrawn from further study procedures at the time pregnancy is identified.
• Brain MRI:
• Contraindications to MRI such as a contraindicated non-removable metal device (i.e., pacemaker, defibrillator, insulin pump, metal clips, non-removable jewelry)
• Pregnancy
• Accelerometer:
• Non ambulatory
• Lumbar puncture procedure:

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Links

• NIH Clinical Center Detailed Web Page

Study Officials

• Debra J Ehrlich, M.D.

  National Institute of Neurological Disorders and Stroke (NINDS)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Oday K Halhouli, M.D.

CONTACT

(301) 402-7969; oday.halhouli@nih.gov

Debra J Ehrlich, M.D.

CONTACT

(301) 443-7888; debra.ehrlich@nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 28, 2026
• First Posted: May 29, 2026
• Study Start (Estimated): October 1, 2026
• Primary Completion (Estimated): May 30, 2036
• Study Completion (Estimated): May 30, 2036
• Last Updated: June 18, 2026

Record last verified: 2026-06-16

Locations

US (1)