An observational study in PARKINSON DIS, sponsored by National Institute of Neurological Disorders and Stroke (NINDS). Not yet recruiting at 1 site in United States. Open to participants aged 18 Years to 100 Years. Per ClinicalTrials.gov, last updated 2026-09-29.
Sponsored by National Institute of Neurological Disorders and Stroke (NINDS) · Observational
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.
Study Description:
This is a longitudinal, observational study that aims to assess progression of clinical features, imaging, and biologic markers of PD in study participants with and without manifest PD who are bi-allelic or mono-allelic carriers of pathogenic variants in the recessively inherited genes PRKN and PINK1 that represent prototypes of mitochondrial- associated PD.
Objectives:
Primary Objective: To characterize the natural history of motor symptoms in PRKN- and PINK1-linked PD.
Secondary Objectives: To comprehensively characterize other clinical features of PRKN- and PINK1-linked PD over time
Tertiary Objectives:
Endpoints:
Primary Endpoint: Annual change in MDS Unified Parkinson's Disease Rating Scale (MDS-UPDRS) Part III
Secondary Endpoints:
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
To be eligible to participate in this study, an individual must meet all of the following criteria:
All participants:
Additional inclusion criteria for each cohort as below:
PD Mito - Biallelic:
PD Mito - Monoallelic:
Idiopathic Parkinson's Disease (PD):
Non-manifesting mito:
Healthy Volunteer
-Lack of current or clinically significant neurological disorder (based on investigator determination)
EXCLUSION CRITERIA:
An individual who meets any of the following criteria will be excluded from participation in this study:
All participants:
Healthy Volunteer:
-Participants who become pregnant during the study will be withdrawn from further study procedures at the time pregnancy is identified.
Procedural Exclusions:
Subjects may still be enrolled if they cannot participate in certain procedures due to not meeting the inclusion requirements for that specific procedure. Subjects who meet exclusion criteria for procedures listed below may still undergo the procedure at a later time if the reason of exclusion is no longer present.
Brain MRI:
Accelerometer:
-Non ambulatory
Lumbar puncture procedure:
Needle muscle biopsy:
Lack of current or clinically significant neurological disorder (based on investigator determination).
participants who carry one or two pathogenic variants in PRKN and/or PINK1 but do not have a diagnosis of PD
PD participants with idiopathic PD
Monoallelic: PD participants carrying one pathogenic mono-allelic variant in PRKN and/or PINK1
Biallelic: PD participants carrying two pathogenic variants in PRKN or PINK1
Estimation of progression of motor symptoms across cohorts
Measured by annual change in MDS Unified Parkinson's Disease Rating Scale (MDS-UPDRS) Part III
Time frame: When final patient completes their last visit
Annual change in MDS-UPDRS parts I, II, IV
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
Time frame: When final patient completes their last visit
Annual change in Montreal Cognitive Assessment (MoCA)
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
Time frame: When final patient completes their last visit
Annual change in Timed up and go (TUG)
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
Time frame: When final patient completes their last visit
Annual change in 10-meter walk
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
Time frame: When final patient completes their last visit
Annual change in 360 degree turn
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
Time frame: When final patient completes their last visit
Annual change in Unified Dyskinesia Rating Scale (UDysRS)
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
Time frame: When final patient completes their last visit
Annual change in University of Pennsylvania Smell Identification Test (UPSIT)
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
Time frame: When final patient completes their last visit
Annual change in REM-Sleep-Behavior Disorder Screening Questionnaire (RBD-SQ)
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
Time frame: When final patient completes their last visit
Annual change in Questionnaire for Impulsive-Compulsive Disorders (QUIP)
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
Time frame: When final patient completes their last visit
Annual change in Epworth Sleepiness Scale (ESS)
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
Time frame: When final patient completes their last visit
Annual change in Geriatric Depression Scale (GDS)
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
Time frame: When final patient completes their last visit
Annual change in State-Trait Anxiety Inventory (STAI)
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
Time frame: When final patient completes their last visit
Annual change in Scales for Outcomes in Parkinson's Disease - Autonomic Dysfunction (SCOPA AUT)
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
Time frame: When final patient completes their last visit
Annual change in 39-item Parkinson's Disease Questionnaire (PDQ-39) - quality of life measurement
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
Time frame: When final patient completes their last visit
Annual change in Schwab and England Activities of Daily Living (SE-ADL) scale
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
Time frame: When final patient completes their last visit
Annual change in Hoehn and Yahr scale assessment
Characterization of other clinical features of PRKN- and PINK1- linked PD over time
Time frame: When final patient completes their last visit
Plan to share: Undecided
This study is not yet recruiting, as verified in Sep 2026. You cannot join it, but the record below documents what was studied.
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National Institute of Neurological Disorders and Stroke (NINDS)