[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100641109":3},{"organization":4,"armGroups":7,"interventions":10,"overallOfficials":24,"centralContacts":29,"locations":38,"responsibleParty":58,"collaborators":10,"id":60,"slug":61,"hasResults":62,"nctId":63,"briefTitle":64,"officialTitle":65,"acronym":10,"eligibilityCriteria":66,"healthyVolunteers":62,"sex":67,"minAge":68,"maxAge":69,"enrollmentInfo":70,"targetDuration":10,"studyType":73,"phases":10,"briefSummary":74,"conditions":75,"keywords":77,"overallStatus":81,"whyStopped":10,"lastUpdateSubmitDate":82,"lastUpdatePostDateStruct":83,"startDateStruct":86,"completionDateStruct":88,"leadSponsor":90,"locationsCount":91},{"fullName":5,"class":6},"National Institutes of Health Clinical Center (CC)","NIH",[8,12,15,18,21],{"label":9,"type":10,"description":11,"interventionNames":10},"Healthy controls",null,"Lack of current or clinically significant neurological disorder (based on investigator determination).",{"label":13,"type":10,"description":14,"interventionNames":10},"Non-manifesting mito","participants who carry one or two pathogenic variants in PRKN and\u002For PINK1 but do not have a diagnosis of PD",{"label":16,"type":10,"description":17,"interventionNames":10},"PD idiopathic","PD participants with idiopathic PD",{"label":19,"type":10,"description":20,"interventionNames":10},"PD mito - monoallelic","Monoallelic: PD participants carrying one pathogenic mono-allelic variant in PRKN and\u002For PINK1",{"label":22,"type":10,"description":23,"interventionNames":10},"PD mito - biallelic","Biallelic: PD participants carrying two pathogenic variants in PRKN or PINK1",[25],{"name":26,"affiliation":27,"role":28},"Debra J Ehrlich, M.D.","National Institute of Neurological Disorders and Stroke (NINDS)","PRINCIPAL_INVESTIGATOR",[30,35],{"name":31,"role":32,"phone":33,"phoneExt":10,"email":34},"Oday K Halhouli, M.D.","CONTACT","(301) 402-7969","oday.halhouli@nih.gov",{"name":26,"role":32,"phone":36,"phoneExt":10,"email":37},"(301) 443-7888","debra.ehrlich@nih.gov",[39],{"facility":40,"status":10,"city":41,"state":42,"zip":43,"country":44,"countryCode":45,"cosmosGeoPoint":46,"geoPoint":51,"contacts":52},"National Institutes of Health Clinical Center","Bethesda","Maryland","20892","United States","US",{"type":47,"coordinates":48},"Point",[49,50],-77.10026,38.98067,{"lat":50,"lon":49},[53],{"name":54,"role":32,"phone":55,"phoneExt":56,"email":57},"NIH Clinical Center Office of Patient Recruitment (OPR)","800-411-1222","TTY dial 711","ccopr@nih.gov",{"type":59,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100641109","longitudinal-natural-history-protocol-for-prkn--and-pink1-linked-pd-100641109",false,"NCT07613112","Longitudinal Natural History Protocol for PRKN- and PINK1-Linked PD","Longitudinal Natural History Protocol for PRKN- and PINK1-linked PD","* INCLUSION CRITERIA:\n\nTo be eligible to participate in this study, an individual must meet all of the following criteria:\n\nAll participants:\n\n* Stated willingness to comply with all study procedures and availability for the duration of the study\n* Male or female between the ages of 18-80 years old\n* Ability of subject to understand and the willingness to sign an informed consent document\n* Ability of subject to travel to the NIH Clinical Center\n\nAdditional inclusion criteria for each cohort as below:\n\nPD Mito - Biallelic:\n\n* Established clinical diagnosis of Parkinson's disease\n* Two Pathogenic or likely pathogenic variants in PRKN or PINK1\n\nPD Mito - Monoallelic:\n\n* Established clinical diagnosis of Parkinson's disease\n* One Pathogenic or likely pathogenic variant in PRKN and\u002For PINK1\n\nIdiopathic Parkinson's Disease (PD):\n\n* Established clinical diagnosis of Parkinson's disease\n* Etiology of PD is idiopathic\u002Fsporadic based on investigator determination\n\nNon-manifesting mito:\n\n* One or two pathogenic or likely pathogenic variant in PRKN and\u002For PINK1\n* Lack of clinical diagnosis of Parkinson's disease\n* Lack of current or clinically significant neurological disorder (based on investigator determination)\n\nHealthy Volunteer\n\n-Lack of current or clinically significant neurological disorder (based on investigator determination)\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\nAll participants:\n\n* 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)\n* Pregnancy at time of study enrollment\n* Any other reason that, in the opinion of the investigator, would render the participant unsuitable for study enrollment\n* Unwilling to allow samples or data to be shared with other researchers or institutions.\n* NIH staff or family members of study team members\n\nHealthy Volunteer:\n\n-Participants who become pregnant during the study will be withdrawn from further study procedures at the time pregnancy is identified.\n\nProcedural Exclusions:\n\nSubjects 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.\n\nBrain MRI:\n\n* Contraindications to MRI such as a contraindicated non-removable metal device (i.e., pacemaker, defibrillator, insulin pump, metal clips, non-removable jewelry)\n* Pregnancy\n\nAccelerometer:\n\n-Non ambulatory\n\nLumbar puncture procedure:\n\n* PT\u002FPTT values that are prolonged greater than or equal to 3 seconds from the upper limit of normal (including treatment with oral and parenteral anticoagulants)\n* INR greater than 1.4, thrombocytopenia (\\\u003C70,000), or abnormal bleeding time or platelet dysfunction\n* History of a bleeding disorder\n* Use of anticoagulants or antiplatelets\n* Pregnancy\n* History of headache requiring blood patch after a previous LP\n\nNeedle muscle biopsy:\n\n* PT\u002FPTT values that are prolonged greater than or equal to 3 seconds from the upper limit of normal (including treatment with oral and parenteral anticoagulants)\n* INR greater than 1.4, thrombocytopenia (\\\u003C70,000), or abnormal bleeding time or platelet dysfunction\n* History of a bleeding disorder\n* Use of anticoagulants or antiplatelets\n* Pregnancy","ALL","18 Years","100 Years",{"count":71,"type":72},70,"ESTIMATED","OBSERVATIONAL","Background:\n\nParkinson 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.\n\nObjective:\n\nTo collect data and biological samples from people with different types of Parkinson s disease.\n\nEligibility:\n\nPeople aged 18 to 80 years with either Parkinson s disease or PRKN- and PINK1-linked Parkinson s disease. Healthy volunteers are also needed.\n\nDesign:\n\nParticipants will have 6 clinic visits over 5 years. Each visit may take 1 to 3 days.\n\nDuring each visit:\n\nParticipants will have a physical exam. The exam will be videotaped.\n\nThey 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.\n\nThey 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.\n\nBlood and urine samples will be collected.\n\nOther tests are optional:\n\nMagnetic resonance imaging (MRI) scan of the brain. Participants will lie on a table that slides into a tube.\n\nLumbar 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.\n\nMuscle biopsy. A small sample of tissue will be taken from the leg.",[76],"PARKINSON DIS",[78,79,80],"PINK1","PRKN","PARKINSON","NOT_YET_RECRUITING","2026-08-12",{"date":84,"type":85},"2026-08-13","ACTUAL",{"date":87,"type":72},"2026-10-01",{"date":89,"type":72},"2036-05-30",{"name":27,"class":6},1]