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

Conditions

• PARKINSON DIS

Eligibility Criteria

Sex

ALL

Age

18 Years - 100 Years

Healthy Volunteers

Not accepted

Study Details

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.

Key Dates

Start date

Oct 1, 2026

Status verified

May 2026

Primary completion

May 30, 2036

Completion

May 30, 2036

Study Design

Enrollment

70 participants (estimated)

Arms

• Arm: Healthy controls
  Lack of current or clinically significant neurological disorder (based on investigator determination).
• Arm: Non-manifesting mito
  participants who carry one or two pathogenic variants in PRKN and/or PINK1 but do not have a diagnosis of PD
• Arm: PD idiopathic
  PD participants with idiopathic PD
• Arm: PD mito - monoallelic
  Monoallelic: PD participants carrying one pathogenic mono-allelic variant in PRKN and/or PINK1
• Arm: PD mito - biallelic
  Biallelic: PD participants carrying two pathogenic variants in PRKN or PINK1

Primary Outcome Measure

Estimation of progression of motor symptoms across cohorts [ Time Frame: When final patient completes their last visit ]

Central Contacts

• Oday K Halhouli, M.D.
  (301) 402-7969
  [email protected]
• Debra J Ehrlich, M.D.
  (301) 443-7888
  [email protected]

Locations (1)

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