[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"undiagnosed-diseases\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:undiagnosed-diseases":110},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,46,58,83],{"id":9,"slug":4,"hasResults":10,"nctId":11,"briefTitle":12,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":10,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":26,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":40,"leadSponsor":42,"locationsCount":45},"100054014",false,"NCT06595940","Genetic Analysis of Uncommon Disease Presentations in Non-US Populations","Genomic Sequencing for Evaluation of Uncommon Disease Manifestations Through the Childhood Complex Disease Genomic Section","* INCLUSION CRITERIA:\n\nTo be eligible to participate in this study, an individual must meet all of the following criteria:\n\n1. Stated willingness to comply with all study procedures and availability for the duration of the study.\n2. Probands aged \\>2 years at enrollment or first-degree relatives of probands (age \\>2 years).\n3. Suspicion of genetic etiology of illness due to strong family history, precocious onset, severity or mildness of phenotype, or all factors being present.\n4. Affected individuals and unaffected family members, determination of clinical criteria for inclusion will be determined by medical record review prior to participation.\n5. Ability of participant and their parent or guardian to understand and have willingness to sign a written informed consent and\u002For assent document.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n1. Anyone unwilling to provide informed consent (for themselves as adults, on behalf of their children as minors, or on behalf of an adult who is unable to provide consent for themselves) or assent.\n2. Individuals who have undergone diagnostic testing for a genetic condition AND the test results were positive.\n3. Evidence that symptoms are secondary or caused by an undiagnosed condition that is unlikely to have a genetic cause.\n4. In the opinion of the investigator, participant has a condition that would preclude participation in the study by interfering with the participant s ability to engage in the required protocol evaluation and testing.","ALL","2 Years","100 Years",{"count":19,"type":20},400,"ESTIMATED","OBSERVATIONAL","Background:\n\nGenetics research over the past 20 years has helped researchers find the causes of many diseases. More powerful tools for genetic testing now exist. Researchers want to use these new tools to learn more about genetic diseases. They want to look for possible genetic causes of unusual diseases. They will focus on people who live outside of the United States and whose access to genetic testing has been limited.\n\nObjective:\n\nTo look for potential genetic sources of diseases among children and their families.\n\nEligibility:\n\nChildren aged 2 to 18 years and their related family members who have or may have a genetic disease. They will reside primarily outside of the US.\n\nDesign:\n\nParticipants will be recruited at sites outside of the US. Participants will be screened. Their existing medical records will be reviewed. They will have a physical exam. They will answer questions about their family history and symptoms. Participants will provide samples for genetic testing. They may have blood drawn. They may spit saliva into a small container. They may have a cotton swab rubbed on the inside of the mouth. The samples will be shipped to the NIH for genetic testing. Participants will be notified if testing reveals a known disease. Participants may be asked to provide new samples to confirm the diagnosis. Local study teams will contact the participants about the results. Participants will also be notified if analysis yields gene variants that may cause disease.",[24,25],"Undiagnosed Diseases","Rare Diseases",[27,28,29,30,31,32],"Genetics","Genomic sequencing","Under-represented populations","Medical genetics","Clinical Phenotype","Uncommon disease","RECRUITING","2026-07-10",{"date":36,"type":37},"2026-07-13","ACTUAL",{"date":39,"type":20},"2026-07-16",{"date":41,"type":20},"2034-08-21",{"name":43,"class":44},"National Human Genome Research Institute (NHGRI)","NIH",1,{"id":47,"slug":4,"hasResults":10,"nctId":11,"briefTitle":12,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":10,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":48,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":49,"keywords":50,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":51,"lastUpdatePostDateStruct":52,"startDateStruct":54,"completionDateStruct":56,"leadSponsor":57,"locationsCount":45},"100561882",{"count":19,"type":20},[24,25],[27,28,29,30,31,32],"2026-07-01",{"date":53,"type":37},"2026-07-02",{"date":55,"type":20},"2026-07-07",{"date":41,"type":20},{"name":43,"class":44},{"id":59,"slug":4,"hasResults":10,"nctId":60,"briefTitle":61,"officialTitle":62,"acronym":4,"eligibilityCriteria":63,"healthyVolunteers":64,"sex":15,"minAge":65,"maxAge":17,"enrollmentInfo":66,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":68,"conditions":69,"keywords":71,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":51,"lastUpdatePostDateStruct":76,"startDateStruct":77,"completionDateStruct":79,"leadSponsor":81,"locationsCount":45},"100250836","NCT02543996","Human Biospecimen Procurement Protocol: Biorepository to Support Translational Research to Identify Disease Mechanism(s)","Human Biospecimen Procurement and Analysis to Support Translational Research to Identify Genetic Etiology and Disease Mechanism(s) in Rare Genetic Vascular\u002FCardiovascular Diseases","* INCLUSION CRITERIA (SUBJECTS MUST MEET ONE OF THE FOLLOWING):\n* Age: older than 1 month of age\n* Affected pregnant women if they have been referred with a known or suspected pathology or if they become pregnant while on study.\n* Unaffected related pregnant women (including spouses\u002Fpartners) for cord blood and tissue collection (surgical waste) only at the time of delivery.\n* Cognitively impaired individuals that are affected\n* Cognitively impaired individuals that are related to an affected subject.\n* Subjects willing to provide informed consent.\n\nEXCLUSION CRITERIA:\n\n* Healthy volunteers unable to give informed consent\n* Cognitively impaired individuals who are not affected\n* Cognitively impaired individuals who are not related to affected subjects.",true,"1 Month",{"count":67,"type":20},10000,"Background:\n\nStudies show that rare genetic variants might lead to diseases. Researchers want to collect blood and tissue samples so they can study them and better understand diseases.\n\nObjective:\n\nTo collect blood and tissue samples for studies to identify underlying causes of disease.\n\nEligibility:\n\nPeople of all ages\n\nDesign:\n\nParticipants will have blood and\u002For tissue samples collected.\n\nSamples can be collected at the NIH Clinical Center. Participants doctors can collect the samples and send them to NIH. NIH staff can collect samples off site.\n\nFor blood samples, blood is taken from an arm vein using a needle.\n\nTissue collection may involve:\n\nBuccal smear: Cells are collected by scraping the inside of the cheek with a cotton swab.\n\nSaliva collection: Participants spit into a cup.\n\nSkin biopsy: A special needle takes a very small skin sample.\n\nSurgical waste tissue: If participants have surgery, NIH may receive samples of tissue that\n\nwould routinely be removed.\n\nUmbilical cord or cord blood collection: If a participant has a baby, NIH may receive a\n\nsmall piece of the umbilical cord or blood from the cord once the baby is delivered.\n\n...",[24,70],"Cardiovascular Disease",[72,73,74,25,75],"Sample Collection","Laboratory Research Specimens","Biospecimen Procurement","Natural History",{"date":53,"type":37},{"date":78,"type":37},"2015-09-17",{"date":80,"type":20},"2050-05-22",{"name":82,"class":44},"National Heart, Lung, and Blood Institute (NHLBI)",{"id":84,"slug":4,"hasResults":10,"nctId":85,"briefTitle":86,"officialTitle":87,"acronym":4,"eligibilityCriteria":88,"healthyVolunteers":64,"sex":15,"minAge":89,"maxAge":17,"enrollmentInfo":90,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":92,"conditions":93,"keywords":98,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":102,"lastUpdatePostDateStruct":103,"startDateStruct":105,"completionDateStruct":107,"leadSponsor":109,"locationsCount":45},"100439876","NCT05007990","Caregiving Networks Across Disease Context and the Life Course","Caregiving Networks Across Disease Context and the Life Course: A Comparative Longitudinal Study","* INCLUSION CRITERIA:\n\nTo be eligible to participate in this study, an individual must meet all of the following criteria:\n\n* Adults aged 18 years and older\n* If the Care Recipient is living, they must self-identify as a primary caregiver to the Care Recipient (individual with a chronic medical condition), OR if the Care Recipient is deceased, they must self-identify as having been a primary caregiver to the now-deceased Care Recipient, OR they must otherwise be identified (i.e., referred) by a participant as a part of the caregiving network\n* Ability to consent to research\n* Fluency in English will be needed to complete interview as well as to read, comprehend surveys and consent forms, as appropriate validated measures in other languages are not readily available.\n* Physically capable of participating in applicable assessments\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from this study:\n\n* Care Recipients (as defined in this protocol)\n* Staff of NHGRI\n\nStaff of NHGRI are unable to participate in this study as a safeguard against the risk of ethical concerns. As per OHSRP SOP 404, NIH staff may be a vulnerable class of study subjects. Excluding staff of the Institute conducting the study assures there will not be any perceived or actual conflict of interest, pressure\u002Fcoercion to participate among co-workers, subordinates, work unit-members, etc. As further noted in OHSRP SOP 404, exclusion further protects this class of subjects privacy and confidentiality; and protects the study s scientific integrity.\n\nPersons with impaired neuro-sensory or decision-making ability (adults unable to provide consent) will not be enrolled in the study. Persons with impaired neuro-sensory or decision making ability would not be able to participate with independent responses to the various social behavioral measures we use in the study interview and survey. Learning information about these individuals through other people instead of themselves would introduce bias to this study.","18 Years",{"count":91,"type":20},2800,"Background:\n\nIn the U.S., about 53 million informal, unpaid caregivers provide care to a person who is ill, is disabled, or has age-related loss of function. These caregivers may be adult children, spouses, parents, or others. The stress of providing long-term care affects caregivers health and well-being. Researchers want to learn more about this stress and its effects.\n\nObjective:\n\nTo learn how the caregiving process affects the health and well-being of caregivers over time.\n\nEligibility:\n\nAdults aged 18 years and older who are caregivers for a person with a chronic medical condition and who have already given consent to take part in other study activities.\n\nDesign:\n\nParticipants will be put in different groups. They will complete some or all of the following tasks over 1 year. They may repeat these tasks once a year for up to 5 years.\n\nParticipants will fill out 2 online surveys. One will ask about their health and their caregiving experience. The other will ask them to list people in their social network and their care recipient s social network who give them support.\n\nParticipants will have a 2-part phone interview. It will be audio recorded. In part 1, they will be asked about the people they listed in the survey. In part 2, they will be asked about their caregiving experience and events in the care recipient s life.\n\nParticipants may fill out a weeklong diary every 3 months. It will ask about their daily social activities, well-being, and stress levels. It will also ask about their thoughts and feelings about caregiving.\n\nParticipants may give a blood sample each year they are in the study.\n\n...",[94,24,95,96,97],"Inherited Metabolic Disorders","Batten's Disease","Tay Sachs","Diabetes",[99,25,75,100,101],"Social Support","Genetic Conditions","Family Network","2026-06-25",{"date":104,"type":37},"2026-06-26",{"date":106,"type":37},"2022-09-08",{"date":108,"type":20},"2030-12-31",{"name":43,"class":44},""]