[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"autoinflammation\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:autoinflammation":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,48],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":15,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":29,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":43,"leadSponsor":45,"locationsCount":5},"100301592","niaid-centralized-sequencing-protocol-100301592",false,"NCT03206099","NIAID Centralized Sequencing Protocol","* PARTICIPANT INCLUSION CRITERIA:\n* Must fulfill one of the following criteria:\n\n  * Proband participants: must be individuals under investigation by another NIH protocol on which they are co-enrolled, or are referred from the GDMCC protocol \"Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults\" (NCT04702243). Probands may have a disease under investigation or be healthy volunteers\n  * Biological relatives: biologically related to a proband participant.\n* Aged 0-99 years.\n* Participants must be willing to undergo genetic testing.\n* Participants must be willing to allow samples to be stored for future research.\n* Participants must be willing to have their de-identified genomic data shared, for example in a controlled access databases like the Database of Genotypes and Phenotypes (dbGaP).\n* To complete surveys and interviews:\n\n  * Proficient with the English language.\n  * Able to provide informed consent.\n* Adult healthy volunteers must be able to provide informed consent.\n\nPARTICIPANT EXCLUSION CRITERIA:\n\nAny condition that, in the opinion of the investigator, contraindicates participation in this study is a reason for exclusion.",true,"ALL","1 Day","100 Years",{"count":20,"type":21},20000,"ESTIMATED","OBSERVATIONAL","Background:\n\nGenetic testing called \"sequencing\" helps researchers look at DNA. Genes are made of DNA and are the instructions for our bodies to function. We all have thousands of genes. DNA variants are differences in genes between two people. We all have lots of variants. Most are harmless and some cause differences like blue or brown eyes. A few variants can cause health problems.\n\nObjective:\n\nTo understand the genetics of immune disorders various health conditions, as well as outcomes of clinical genomics and genetic counseling services performed under this protocol.\n\nEligibility:\n\nParticipants in other NIH human subjects research protocols - either at the NIH Clinical Center (CC) or at Children s National Health System (CNHS) - (aged 0-99 years), and, in select cases, their biological relatives\n\nDesign:\n\nResearchers will study participant s DNA extracted from blood, saliva, or another tissue sample, including previously collected samples we may have stored at the NIH. Researchers will look at participant s DNA in great detail. We are looking for differences in the DNA sequence or structure between participants and other people.\n\nParticipants will receive results that:\n\n* Are important to their health\n* Have been confirmed in a clinical lab\n* Suggest that they could be at risk for serious disease that may affect your current or future medical management.\n\nSome genetic information we return to participants may be of uncertain importance.\n\nIf genetic test results are unrelated to the participant s NIH evaluations, then we will not typically report:\n\n* Normal variants\n* Information about progressive, fatal conditions that have no effective treatment\n* Carrier status (conditions you don t have but could pass on)\n\nThe samples and data will be saved for future research.\n\nPersonal data will be kept as private as possible.\n\nIf future studies need new information, participants may be contacted.",[25,26,27,28],"Atopy","Primary Immunodeficiency","Autoimmunity","Autoinflammation",[30,31,32,33,34,35],"Phenotyping","Genetics","Sequencing","Inborn Errors of Immunity","Genomics","Natural History","RECRUITING","2026-07-01",{"date":39,"type":40},"2026-07-02","ACTUAL",{"date":42,"type":40},"2017-07-31",{"date":44,"type":21},"2029-12-31",{"name":46,"class":47},"National Institute of Allergy and Infectious Diseases (NIAID)","NIH",{"id":49,"slug":50,"hasResults":11,"nctId":51,"briefTitle":52,"officialTitle":53,"acronym":4,"eligibilityCriteria":54,"healthyVolunteers":15,"sex":16,"minAge":55,"maxAge":56,"enrollmentInfo":57,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":59,"conditions":60,"keywords":67,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":75,"lastUpdatePostDateStruct":76,"startDateStruct":78,"completionDateStruct":4,"leadSponsor":80,"locationsCount":82},"100054419","familial-mediterranean-fever-and-related-disorders-genetics-and-disease-characteristics-100054419","NCT00001373","Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics","An Exploratory Study of the Genetics, Pathophysiology, and Natural History of Autoinflammatory Diseases","* INCLUSION CRITERIA:\n\nThere are three populations that will be included in this study: subjects with known or suspected autoinflammatory diseases, family members of subjects with known or suspected autoinflammatory diseases, and healthy controls. Persons interested in participation may be given a screening questionnaire to determine eligibility. Questions in the screening questionnaire are important to help us determine if subjects have known autoinflammatory diseases, or if there is a high clinical suspicion of autoinflammatory disease.\n\nIn order to be eligible to participate in this study as a subject with known or suspected autoinflammatory disease, an individual must meet all of the following criteria:\n\n1. Stated willingness to participate in study procedures (which at the very least includes providing a mail-in sample for genetic analysis);\n2. Regardless of gender, at least one month of age;\n3. A medical history that, in the expert opinion of the study team, is consistent with the possibility of autoinflammatory disease; and\n4. Ability of the subject, parents (in the case of children), or Legally Authorized Representative to understand and the willingness to sign a written informed consent document.\n\nIn order to be eligible to participate in this study as a family member of a subject with known or suspected autoinflammatory disease, an individual must meet all of the following criteria:\n\n1. Stated willingness to participate in study procedures (which at the very least includes providing a mail-in sample for genetic analysis);\n2. Regardless of gender, at least one month of age;\n3. Relationship, either by blood or marriage, to an individual enrolled or about to be enrolled in the study with known or suspected autoinflammatory disease;\n4. Likelihood, in the expert opinion of the study team, that analysis of a sample from the individual would advance genetic or functional analysis of the affected relative's possible autoinflammatory condition; and\n5. Ability of the subject, parents (in the case of children), or Legally Authorized Representative to understand and the willingness to sign a written informed consent document.\n\nIn order to be eligible to participate in this study as a healthy volunteer, an individual must meet all of the following criteria:\n\n1. Stated willingness to participate in study procedures for healthy volunteers;\n2. Regardless of gender, at least one year old, and not pregnant (by history of a missed menstrual period);\n3. Likelihood, in the expert opinion of the study team, that a sample from the individual would advance the functional analysis of an autoinflammatory condition under study; and\n4. Ability of the subject or parents (in the case of children) to understand and the willingness to sign a written informed consent document.\n\nEXCLUSION CRITERIA:\n\nFor any of the three categories of subjects, an individual will be excluded from participation in this study if he or she has a medical condition that would, in the opinion of the investigators, confuse the interpretation of the study.","2 Months","115 Years",{"count":58,"type":21},5000,"This study is designed to explore the genetics and pathophysiology of diseases presenting with intermittent fever, including familial Mediterranean fever, TRAPS, hyper-IgD syndrome, and related diseases.\n\nThe following individuals may be eligible for this natural history study: 1) patients with known or suspected familial Mediterranean fever, TRAPS, hyper-IgD syndrome or related disorders; 2) relatives of these patients; 3) healthy, normal volunteers 7 years of age or older.\n\nPatients will undergo a medical and family history, physical examination, blood and urine tests. Additional tests and procedures may include the following:\n\n1. X-rays\n2. Consultations with specialists\n3. DNA sample collection (blood or saliva sample) for genetic studies. These might include studies of specific genes, or more complete sequencing of the genome.\n4. Additional blood samples a maximum of 1 pint (450 ml) during a 6-week period for studies of white cell adhesion (stickiness)\n5. Leukapheresis for collecting larger amounts of white cells for study. For this procedure, whole blood is collected through a needle in an arm vein. The blood flows through a machine that separates it into its components. The white cells are removed and the rest of the blood is returned to the body through another needle in the other arm.\n\nPatients may be followed approximately every 6 months to monitor symptoms, adjust medicine dosages, and undergo routine blood and urine tests. They will receive genetic counseling by the study team on the risk of having affected children and be advised of treatment options.\n\nParticipating relatives will undergo a medical and family history, possibly with a review of medical records, physical examination, blood and urine tests. Additional procedures may include a 24-hour urine collection, X-rays, and consultations with medical specialists. A DNA sample (blood or saliva) will also be collected for genetic studies. Additional blood samples of no more than 550 mL during an 8-week period may be requested for studies of white cell adhesion (stickiness).\n\nRelatives who have familial Mediterranean fever, TRAPS, or hyper-IgD syndrome will receive the same follow-up and counseling as described for patients above.\n\nNormal volunteers and patients with gout will have a brief health interview and check of vital signs (blood pressure and pulse) and will provide a blood sample (up to 90 ml, or 6 tablespoons). Additional blood samples of no more than 1 pint over a 6-week period may be requested in the future....",[61,28,62,63,64,65,66],"Familial Mediterranean Fever (FMF)","Periodic Fever","Fever","Genetic Diseases","ROSAH","ALPK1",[68,69,62,70,71,31,72,28,73,74],"Splenomegaly","Retinal Dystrophy","Optic Nerve Edema","HEADACHE","Familial Mediterranean","Anhidrosis","Alpha-Kinase 1","2026-06-27",{"date":77,"type":40},"2026-06-30",{"date":79,"type":40},"1994-03-10",{"name":81,"class":47},"National Human Genome Research Institute (NHGRI)",5]