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 2026-11-13.
Sponsored by National Institute of Neurological Disorders and Stroke (NINDS) · Observational
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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:
National Institute of Neurological Disorders and Stroke (NINDS) is the lead sponsor of 601 studies on the registry; 56 are open to participants now.
Of its 18 completed or terminated interventional studies of FDA-regulated products, 8 (44%) have results posted.
Counted across the registry records on this site, refreshed daily.
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
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
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 :
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Judged by the study doctor to matter for your health or for the study. It is a doctor’s decision, so ask the study team if you are unsure whether something counts.
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Blood tests of how long blood takes to clot. The INR is the prothrombin time (PT) put on a common scale; about 1 is usual for someone not taking a blood thinner.
Criteria often make an exception for people on a blood thinner such as warfarin, whose INR is raised on purpose.
The top of the normal range for a blood test, as set by the laboratory that runs it. Each lab prints its own range next to your result.
“≤ 2.5 × ULN” means the result can be up to two and a half times that top value.
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Clinically significant
Judged by the study doctor to matter for your health or for the study. It is a doctor’s decision, so ask the study team if you are unsure whether something counts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Contraindication
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
INR, PT and aPTT (clotting tests)
Blood tests of how long blood takes to clot. The INR is the prothrombin time (PT) put on a common scale; about 1 is usual for someone not taking a blood thinner.
Criteria often make an exception for people on a blood thinner such as warfarin, whose INR is raised on purpose.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
ULN (upper limit of normal)
The top of the normal range for a blood test, as set by the laboratory that runs it. Each lab prints its own range next to your result.
“≤ 2.5 × ULN” means the result can be up to two and a half times that top value.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Platelets
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Biopsy and archival tissue
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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
Start is estimated for Nov 2026; primary completion for May 2036, 114 months later.
Start moved 32 times since we started tracking on Sep 25, 2026: Oct 2026 → Nov 2026, last on Nov 13, 2026.
Earlier changes are on the record history on ClinicalTrials.gov ↗
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
This study is not yet recruiting, as verified in Oct 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) →