[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT07613112":3,"trial-entities:NCT07613112":139,"trial-summary:NCT07613112":145},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":7,"overall_status":8,"completion_date":9,"status_verified_date":10,"last_update_date":11,"start_date":12,"sponsor_name":13,"lead_sponsor_class":14,"has_dmc":15,"brief_summary":16,"detailed_description":17,"conditions":18,"keywords":20,"study_type":24,"primary_purpose":15,"phases":25,"enrollment_info":26,"interventions":29,"primary_outcomes":30,"secondary_outcomes":35,"sex":69,"minimum_age":70,"maximum_age":71,"healthy_volunteers":72,"eligibility_criteria":73,"std_ages":102,"locations":105,"central_contacts":122,"overall_officials":131,"references":134,"see_also_links":135},"NCT07613112","10002619","Longitudinal Natural History Protocol for PRKN- and PINK1-Linked PD","Longitudinal Natural History Protocol for PRKN- and PINK1-linked PD","NOT_YET_RECRUITING","2036-05-30","2026-09-16","2026-09-18","2026-10-01","National Institute of Neurological Disorders and Stroke (NINDS)","NIH",null,"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.","Study Description:\n\nThis 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.\n\nObjectives:\n\nPrimary Objective: To characterize the natural history of motor symptoms in PRKN- and PINK1-linked PD.\n\nSecondary Objectives: To comprehensively characterize other clinical features of PRKN- and PINK1-linked PD over time\n\nTertiary Objectives:\n\n* To characterize structural brain changes over time\n* To identify molecular signatures that differ between PRKN and PINK1-associated PD, non-manifesting mutation carriers, wildtype PD, and healthy controls.\n* To generate a repository of longitudinal data and samples for future studies aimed at developing targeted therapies.\n* To characterize in-home assessment of movements\n* To evaluate for mitochondrial changes in the muscle\n\nEndpoints:\n\nPrimary Endpoint: Annual change in MDS Unified Parkinson's Disease Rating Scale (MDS-UPDRS) Part III\n\nSecondary Endpoints:\n\n* Annual change in MDS-UPDRS parts I, II, IV\n* Annual change in Montreal Cognitive Assessment (MoCA)\n* Annual change in Timed up and go (TUG)\n* Annual change in 10-meter walk\n* Annual change in 360 degree turn\n* Annual change in Unified Dyskinesia Rating Scale (UDysRS)\n* Annual change in University of Pennsylvania Smell Identification Test (UPSIT)\n* Annual change in REM-Sleep-Behavior Disorder Screening Questionnaire (RBD-SQ)\n* Annual change in Questionnaire for Impulsive-Compulsive Disorders (QUIP)\n* Annual change in Epworth Sleepiness Scale (ESS)\n* Annual change in Geriatric Depression Scale (GDS)\n* Annual change in State-Trait Anxiety Inventory (STAI)\n* Annual change in Scales for Outcomes in Parkinson s Disease - Autonomic Dysfunction (SCOPA AUT)\n* Annual change in 39-item Parkinson s Disease Questionnaire (PDQ-39)- quality of life measurement\n* Annual change in Schwab and England Activities of Daily Living (SE-ADL) scale\n* Annual change in Hoehn and Yahr scale assessment Tertiary endpoints:\n* Annual change of brain MRI measurement of overall brain, striatum and substantia nigra volumes\n* Annual change of brain MRI measurement of iron deposition\n* Annual change in studies from blood\n* Annual change in studies from CSF\n* Annual change in studies from urine\n* Annual change in Wearable Accelerometry data\n* Evidence of mitochondrial cytopathy on muscle biopsy",[19],"PARKINSON DIS",[21,22,23],"PINK1","PRKN","PARKINSON","OBSERVATIONAL",[],{"count":27,"type":28},70,"ESTIMATED",[],[31],{"measure":32,"description":33,"timeFrame":34},"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",[36,39,41,43,45,47,49,51,53,55,57,59,61,63,65,67],{"measure":37,"description":38,"timeFrame":34},"Annual change in MDS-UPDRS parts I, II, IV","Characterization of other clinical features of PRKN- and PINK1- linked PD over time",{"measure":40,"description":38,"timeFrame":34},"Annual change in Montreal Cognitive Assessment (MoCA)",{"measure":42,"description":38,"timeFrame":34},"Annual change in Timed up and go (TUG)",{"measure":44,"description":38,"timeFrame":34},"Annual change in 10-meter walk",{"measure":46,"description":38,"timeFrame":34},"Annual change in 360 degree turn",{"measure":48,"description":38,"timeFrame":34},"Annual change in Unified Dyskinesia Rating Scale (UDysRS)",{"measure":50,"description":38,"timeFrame":34},"Annual change in University of Pennsylvania Smell Identification Test (UPSIT)",{"measure":52,"description":38,"timeFrame":34},"Annual change in REM-Sleep-Behavior Disorder Screening Questionnaire (RBD-SQ)",{"measure":54,"description":38,"timeFrame":34},"Annual change in Questionnaire for Impulsive-Compulsive Disorders (QUIP)",{"measure":56,"description":38,"timeFrame":34},"Annual change in Epworth Sleepiness Scale (ESS)",{"measure":58,"description":38,"timeFrame":34},"Annual change in Geriatric Depression Scale (GDS)",{"measure":60,"description":38,"timeFrame":34},"Annual change in State-Trait Anxiety Inventory (STAI)",{"measure":62,"description":38,"timeFrame":34},"Annual change in Scales for Outcomes in Parkinson's Disease - Autonomic Dysfunction (SCOPA AUT)",{"measure":64,"description":38,"timeFrame":34},"Annual change in 39-item Parkinson's Disease Questionnaire (PDQ-39) - quality of life measurement",{"measure":66,"description":38,"timeFrame":34},"Annual change in Schwab and England Activities of Daily Living (SE-ADL) scale",{"measure":68,"description":38,"timeFrame":34},"Annual change in Hoehn and Yahr scale assessment","ALL","18 Years","100 Years",false,{"inclusion":74,"exclusion":94,"raw_text":101},[75,76,77,78,79,80,79,81,79,82,83,84,85,85,86,87,88,89,90,91,92,87,93,89,90,91,92,87],"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","Established clinical diagnosis of Parkinson's disease","Two Pathogenic or likely pathogenic variants in PRKN or PINK1","One Pathogenic or likely pathogenic variant in PRKN and\u002For PINK1","Etiology of PD is idiopathic\u002Fsporadic based on investigator determination","One or two pathogenic or likely pathogenic variant in PRKN and\u002For PINK1","Lack of clinical diagnosis of Parkinson's disease","Lack of current or clinically significant neurological disorder (based on investigator determination)","Contraindications to MRI such as a contraindicated non-removable metal device (i.e., pacemaker, defibrillator, insulin pump, metal clips, non-removable jewelry)","Pregnancy","Non ambulatory","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)","INR greater than 1.4, thrombocytopenia (\\\u003C70,000), or abnormal bleeding time or platelet dysfunction","History of a bleeding disorder","Use of anticoagulants or antiplatelets","History of headache requiring blood patch after a previous LP",[95,96,97,98,99,100],"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","Participants who become pregnant during the study will be withdrawn from further study procedures at the time pregnancy is identified.","* 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",[103,104],"ADULT","OLDER_ADULT",[106],{"facility":107,"city":108,"state":109,"zip":110,"country":111,"contacts":112,"geoPoint":119},"National Institutes of Health Clinical Center","Bethesda","Maryland","20892","United States",[113],{"name":114,"role":115,"phone":116,"phoneExt":117,"email":118},"NIH Clinical Center Office of Patient Recruitment (OPR)","CONTACT","800-411-1222","TTY dial 711","ccopr@nih.gov",{"lat":120,"lon":121},38.98067,-77.10026,[123,127],{"name":124,"role":115,"phone":125,"email":126},"Oday K Halhouli, M.D.","(301) 402-7969","oday.halhouli@nih.gov",{"name":128,"role":115,"phone":129,"email":130},"Debra J Ehrlich, M.D.","(301) 443-7888","debra.ehrlich@nih.gov",[132],{"name":128,"affiliation":13,"role":133},"PRINCIPAL_INVESTIGATOR",[],[136],{"label":137,"url":138},"NIH Clinical Center Detailed Web Page","https:\u002F\u002Fclinicalstudies.info.nih.gov\u002Fcgi\u002Fdetail.cgi?B_002619-N.html",{"nct_id":4,"conditions":140,"biomarkers":142},[141],"Parkinson Disease",[143,144],"E3 Ubiquitin-Protein Ligase Parkin","PINK1 Gene",{"nct_id":4,"found":146,"summary":147,"prompt_version":157},true,{"design":148,"status":149,"heading":150,"summary":151,"follow_up":152,"word_count":153,"commitments":154,"compensation":155,"drugs_mentioned":156},"This is an observational study, meaning participants will be monitored over time without receiving any specific intervention. The study plans to enroll 70 participants.","completed","Understanding Parkinson's Disease with PRKN and PINK1 Gene Changes","This observational study aims to better understand how Parkinson's disease (a brain disorder that affects movement) progresses, especially in people with specific gene changes (PRKN and PINK1). Researchers will collect information and biological samples from people with different types of Parkinson's disease, including those with PRKN- and PINK1-linked Parkinson's, and healthy volunteers. The main goal is to track how motor symptoms (problems with movement) change over time. You may be able to join if you are between 18 and 80 years old and have Parkinson's disease or are a healthy volunteer. The study is currently recruiting participants.","The primary endpoint measures progression of motor symptoms when the final patient completes their last visit, indicating long-term follow-up.",97,"You would have 6 clinic visits over 5 years, with each visit potentially lasting 1 to 3 days. During each visit, you will have a physical exam.","Not stated in the trial record.",[],"v2"]