[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"rosah\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:rosah":31},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,53],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":33,"overallStatus":42,"whyStopped":4,"lastUpdateSubmitDate":43,"lastUpdatePostDateStruct":44,"startDateStruct":47,"completionDateStruct":4,"leadSponsor":49,"locationsCount":52},"100054419","familial-mediterranean-fever-and-related-disorders-genetics-and-disease-characteristics-100054419",false,"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.",true,"ALL","2 Months","115 Years",{"count":21,"type":22},5000,"ESTIMATED","OBSERVATIONAL","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....",[26,27,28,29,30,31,32],"Familial Mediterranean Fever (FMF)","Autoinflammation","Periodic Fever","Fever","Genetic Diseases","ROSAH","ALPK1",[34,35,28,36,37,38,39,27,40,41],"Splenomegaly","Retinal Dystrophy","Optic Nerve Edema","HEADACHE","Genetics","Familial Mediterranean","Anhidrosis","Alpha-Kinase 1","RECRUITING","2026-06-27",{"date":45,"type":46},"2026-06-30","ACTUAL",{"date":48,"type":46},"1994-03-10",{"name":50,"class":51},"National Human Genome Research Institute (NHGRI)","NIH",5,{"id":54,"slug":55,"hasResults":11,"nctId":56,"briefTitle":57,"officialTitle":58,"acronym":4,"eligibilityCriteria":59,"healthyVolunteers":11,"sex":17,"minAge":60,"maxAge":61,"enrollmentInfo":62,"targetDuration":4,"studyType":64,"phases":65,"briefSummary":67,"conditions":68,"keywords":69,"overallStatus":42,"whyStopped":4,"lastUpdateSubmitDate":78,"lastUpdatePostDateStruct":79,"startDateStruct":81,"completionDateStruct":83,"leadSponsor":85,"locationsCount":52},"100546465","phase-1-evaluating-the-safety-and-tolerability-of-orally-administered-df-003-in-rosah-syndrome-patients-100546465","NCT06395285","Evaluating the Safety and Tolerability of Orally Administered DF-003 in ROSAH Syndrome Patients","A Phase Ib, Open-Label Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of Orally Administered DF-003 in ROSAH Syndrome Patients","Inclusion Criteria:\n\n1. Sufficient understanding of the purpose and procedures required for the study.\n2. Body mass index (BMI) of 18.0 to 35.0 kg\u002Fm2, inclusive.\n3. Genetic testing for ALPK1 mutations that has been shown to be associated with ROSAH syndrome (e.g. T237M or Y254C, or T237A mutations).\n4. Signs of uveitis (anterior and\u002For posterior) in the eye (e.g. macula edema, optic nerve edema, retinal vasculitis, or retinal vascular leakage).\n5. Patients must be deemed healthy except for diagnosis of ROSAH syndrome and its clinical manifestation.\n6. Patients must be at least 18 years of age but no older than 65 years of age at the time of Screening.\n\nExclusion Criteria:\n\n1. Males who plan to father a child or donate sperm while enrolled in this study or within 90 days after the last dose of study drug.\n2. Females who are pregnant, breastfeeding, planning to become pregnant, or planning to donate eggs while on study medication or within 90 days after the last dose of study drug.\n3. Use of any of the following prohibited medications:\n\n   * Agents that are known to have systemic anti-inflammatory responses or high risk for nephrotoxicity or hepatotoxicity\n   * Moderate CYP3A4 inhibitors: e.g., amiodarone, amprenavir, conivaptan, delavirdine, diltiazem, erythromycin, fluconazole, fosamprenavir, imatinib, miconazole, verapamil, grapefruit juice, cat's claw (Dolichandra unguis-cati), Echinacea augustifolia, wild cherry, chamomile, licorice\n   * Strong CYP3A4 inhibitors: e.g., ceritinib, clarithromycin, cobicistat, elvitegravir\u002Fritonavir, idelalisib, indinavir\u002Fritonavir, itraconazole, ketoconazole, lopinavir\u002Fritonavir, nefazodone, nelfinavir, paritaprevir\u002Fritonavir, ombitasvir\u002Fparitaprevir\u002Fritonavir (and\u002For dasabuvir), posaconazole, ritonavir, saquinavir\u002Fritonavir, telithromycin, tipranavir\u002Fritonavir, voriconazole.\n   * Strong CYP3A4 inducers: apalutamide, carbamazepine, enzalutamide, ivosidenib, lumacaftor\u002Fivacaftor, mitotane, phenytoin, rifampin, St. John's wort.\n   * Digoxin\n   * Agents known to cause Torsade de Pointes: Disopyramide, procainamide, quinidine, sotalol, azithromycin, clarithromycin, erythromycin, ciprofloxacin, levofloxacin, moxifloxacin, fluconazole, ketoconazole, pentamidine, voriconazole, haloperidol, thioridazine, ziprasidone, citalopram, escitalopram, dolasetron, droperidol, granisetron, and ondansetron\n   * Investigational agents (small molecules and oligonucleotides), vaccines, or invasive medical devices within 28 days (4 weeks, or 5 half-lives, whichever is longer) prior to enrollment or having received a biological product within 6 months prior to enrollment.\n4. History of significant hypersensitivity to products related to DF-003 (including excipients of the formulations) as well as severe hypersensitivity reactions (like angioedema) to any drugs.\n5. Recent (within 3 months prior to screening) or acute changes in the following laboratory values:\n\n   * Platelet count ≤ 120,000\u002Fmm3, or\n   * Alanine aminotransferase (ALT) or aspartate aminotransferase (AST) \\> ULN\n   * Bilirubin (total, direct) \\> ULN or\n   * International Normalization Ratio (INR) \\> ULN, or\n   * Serum albumin less than the lower limit of normal, or\n   * Estimated creatinine clearance \\\u003C 70 mL\u002Fmin\u002F1.73 m2 at Screening, calculated by the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) formula, or\n   * Hemoglobin A1c (HbA1c) \\> 8%.\n6. Moderate or severe hepatic impairment (categorized as Child-Pugh class B and C, respectively, on the Child-Pugh Score for Cirrhosis Mortality)","18 Years","65 Years",{"count":63,"type":22},12,"INTERVENTIONAL",[66],"PHASE1","The purpose of this study is to evaluate the safety and tolerability of DF-003 in retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome patients.",[31],[70,71,72,73,74,75,76,77],"ROSAH syndrome","alpha-protein kinase 1","cone-rod dystrophy","macular edema","papillary edema","retinal dystrophy","uveitis","T237M","2026-06-03",{"date":80,"type":46},"2026-06-05",{"date":82,"type":46},"2025-05-27",{"date":84,"type":22},"2026-11",{"name":86,"class":87},"Shanghai Yao Yuan Biotechnology Ltd. (also known as Drug Farm)","INDUSTRY"]