[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"congenital-adrenal-hyperplasia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:congenital-adrenal-hyperplasia":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,12,0,[8,42,74,102,127,152,176,228,252,274,295,333],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":26,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":41},"100640425","development-of-healthcare-transition-for-patients-with-congenital-adrenal-hyperplasia-100640425",false,"NCT07611786","Development of Healthcare Transition for Patients With Congenital Adrenal Hyperplasia","Evaluation of a Healthcare Transition Protocol for Patients With Congenital Adrenal Hyperplasia","Inclusion Criteria:\n\nYA Participants\n\n* Diagnosis of congenital adrenal hyperplasia (any subtype or severity)\n* Age ≥16 years\n* Active follow-up within the pediatric endocrinology clinic\n* English-speaking\n* Cognitively able to complete questionnaires with or without assistance\n* Anticipated ability to participate in CAH-T visits during the study period Caregiver Participants\n* Parent, guardian, or primary support person of an enrolled AYA participant Provider Participants\n* Pediatric endocrinologists, nurse practitioners, or transition-related clinical staff involved in CAH care for at least 6 months\n\nExclusion Criteria:\n\n* Significant cognitive impairment precluding participation\n* Inability to complete study procedures\n* Inability to provide informed consent\u002Fassent",true,"ALL","16 Years",{"count":20,"type":21},40,"ESTIMATED","OBSERVATIONAL","The purpose of this study is to implement and evaluate the feasibility and acceptability of a structured healthcare transition program for adolescents and young adults with congenital adrenal hyperplasia (CAH). The study will also examine preliminary effects of the program on transition readiness, disease-specific self-management knowledge, emergency preparedness, continuity of endocrine care, and health-related quality of life as participants transition from pediatric to adult healthcare services.",[25],"Congenital Adrenal Hyperplasia",[27,28],"congenital adrenal hyperplasia","healthcare transition","NOT_YET_RECRUITING","2026-06-29",{"date":32,"type":33},"2026-07-01","ACTUAL",{"date":35,"type":21},"2026-07",{"date":37,"type":21},"2029-07",{"name":39,"class":40},"University of Alabama at Birmingham","OTHER",1,{"id":43,"slug":44,"hasResults":11,"nctId":45,"briefTitle":46,"officialTitle":47,"acronym":48,"eligibilityCriteria":49,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":50,"enrollmentInfo":51,"targetDuration":4,"studyType":53,"phases":54,"briefSummary":56,"conditions":57,"keywords":59,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":64,"lastUpdatePostDateStruct":65,"startDateStruct":66,"completionDateStruct":68,"leadSponsor":70,"locationsCount":73},"100570867","phase-2-an-extension-study-to-evaluate-safety-and-efficacy-of-atumelnant-in-participants-with-congenital-adrenal-hyperplasia-100570867","NCT06712823","An Extension Study to Evaluate Safety and Efficacy of Atumelnant in Participants With Congenital Adrenal Hyperplasia","An Open-label, Long-term Extension Study to Evaluate Safety and Efficacy of Atumelnant in Participants With Congenital Adrenal Hyperplasia (CALM2-CAH)","CALM2-CAH","Inclusion Criteria:\n\nParticipants are eligible to be included in the study only if all the following criteria apply:\n\n1. Participants with CAH who have completed the Treatment Period in a Crinetics parent atumelnant CAH study, and in the opinion of the Investigator had an acceptable benefit-risk assessment in the completed study and would benefit from continued dosing in this extension study.\n\n   1. Group 1: Participants meeting the above criteria and did not have study drug administration interrupted between End of Trial (EOT) of the parent study and the commencement of the OLE study.\n   2. Group 2: Participants meeting the above criteria but had study drug administration interrupted between EOT of the parent study and the commencement of the OLE study.\n2. Female participants who engage in heterosexual intercourse must:\n\n   1. Be of nonchildbearing potential, defined as either surgically sterile (ie, hysterectomy, bilateral salpingectomy for at least 3 months, or bilateral oophorectomy), OR\n   2. Be postmenopausal with at least 1 year of amenorrhea. In participants with less than 1 year of amenorrhea, confirmation is required with 2 follicle-stimulating hormone (FSH) measurements. A documented, historical test result measured prior to Screening may be used as 1 of the 2 measurements. The FSH value should be ≥30 IU\u002FL to confirm menopausal status, OR\n   3. Agree to use a highly effective method of contraception from the beginning of Screening until at least 2 weeks after the last dose of study drug. Contraceptive use by men and women also should be consistent with local regulations regarding the methods of contraception for those participating in clinical studies. Periodic abstinence (ie, calendar, ovulation, symptothermal, postovulation methods) and withdrawal are not acceptable methods of contraception.\n3. Male participants agree to use a condom when sexually active with a female partner of childbearing potential from Screening until at least 2 weeks after the last dose of study drug (or be surgically sterile \\[ie, vasectomy with a confirmed absence of sperm in ejaculate\\]; or agree to remain abstinent on a long-term and persistent basis). Male participants should also agree to not donate sperm for the duration of the study and until at least 2 weeks after the last dose of study drug.\n4. Participants are willing and able to give signed informed consent, including compliance with the requirements and restrictions listed in the Informed Consent Form (ICF).\n5. Participants are willing and able to comply with the study procedures as specified in the protocol and comply with the study treatment.\n\nExclusion Criteria:\n\nParticipants are excluded from the study if any of the following criteria apply:\n\n1. Any medical condition(s) or laboratory findings that, in the opinion of the Investigator, might jeopardize the participant's safety or ability to complete the study.\n2. Participants have known history of (that is within the past 12 months), or current alcohol or drug abuse.\n3. Participants have any mental condition rendering him\u002Fher unable to understand the nature, scope, and possible consequences of the study, and\u002For evidence of poor compliance with medical instructions.\n4. Participants have a known allergy or hypersensitivity to any of the test materials or related compounds, including being at high risk of adrenal insufficiency as judged by the Investigator.\n5. Women who are pregnant or lactating or, if of childbearing potential, who are unwilling to use highly effective contraception as described in this study. Male participants who are unwilling to use highly effective contraception as described in this study.\n6. Participant is an employee or immediate family member of an employee of Crinetics.\n7. Participants who have been dosed with an investigational drug (other than atumelnant) in any prior clinical study within 60 days or 5 half-lives (whichever is longer) prior to informed consent or plan to use an investigational drug in another study.\n8. Participants who have had an active malignant disease within the last 5 years prior to Screening excluding dermal squamous or basal cell carcinoma of the skin with complete local excision or resected cervical carcinoma in situ.\n9. Participants who are committed to an institution by virtue of an order issued either by the judicial or the administrative authorities.\n\n   Specific for Participants Not Currently Receiving Atumelnant\n10. Participants with any clinically significant abnormal laboratory test during Screening or clinically significant concomitant disease other than CAH including but not limited to cardiovascular disease; moderate or severe renal insufficiency (estimated glomerular filtration rate \\\u003C30 mL\u002Fmin\u002F1.73 m2 using Chronic Kidney Epidemiology Collaboration \\[CKD-EPI\\] formula) at Screening; or Significant liver disease or alanine aminotransferase (ALT) and\u002For aspartate aminotransferase (AST) \\>3× upper limit of normal (ULN), and\u002For total bilirubin \\>1.5×ULN during Screening. Participants with previously diagnosed Gilbert's syndrome not accompanied by other hepatobiliary disorders and associated with total bilirubin \\\u003C3.5 mg\u002FdL (\\\u003C51.3 μmol\u002FL) will be permitted.\n11. Participants with a history of bilateral adrenalectomy, hypopituitarism, or other condition requiring chronic glucocorticoid therapy.\n12. Participants with a history of major surgery\u002Fsurgical therapy for any cause within 4 weeks prior to Screening.\n13. Participants with poorly controlled diabetes mellitus defined as having a hemoglobin A1c (HbA1c) ≥8.5% (≥69 mmol\u002FmL).\n14. Participants with hypothyroidism who are not receiving adequate hormone replacement therapy based on thyroid hormone levels measured at the time of Screening, as determined by the Investigator.\n15. Participant has an average (of 3 electrocardiograms \\[ECGs\\]) Fridericia's corrected QT (QTcF) interval \\>450 milliseconds (msec) (men) or \\>470 msec (women), time interval between P and R waves (PR interval) \\>220 msec, time interval of the QRS complex (QRS) interval \\>120 msec, second- or third-degree atrioventricular block, left bundle branch block, or hemiblock at Screening.","74 Years",{"count":52,"type":21},200,"INTERVENTIONAL",[55],"PHASE2","The purpose of this study is to evaluate the long-term safety, tolerability, and efficacy of atumelnant (CRN04894).",[25,58],"Classic Congenital Adrenal Hyperplasia",[25,60,61,62],"CAH","CRN04894","atumelnant","RECRUITING","2026-06-24",{"date":30,"type":33},{"date":67,"type":33},"2025-02-25",{"date":69,"type":21},"2029-08",{"name":71,"class":72},"Crinetics Pharmaceuticals Inc.","INDUSTRY",13,{"id":75,"slug":76,"hasResults":11,"nctId":77,"briefTitle":78,"officialTitle":79,"acronym":4,"eligibilityCriteria":80,"healthyVolunteers":11,"sex":17,"minAge":81,"maxAge":82,"enrollmentInfo":83,"targetDuration":4,"studyType":53,"phases":85,"briefSummary":87,"conditions":88,"keywords":89,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":93,"lastUpdatePostDateStruct":94,"startDateStruct":96,"completionDateStruct":98,"leadSponsor":100,"locationsCount":101},"100605232","phase-2-a-study-in-pediatric-participants-with-congenital-adrenal-hyperplasia-balance-cah-100605232","NCT07159841","A Study in Pediatric Participants With Congenital Adrenal Hyperplasia (Balance-CAH)","A Phase 2\u002F3 Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of Atumelnant Treatment in Pediatric Participants With Congenital Adrenal Hyperplasia Including a Long-Term Extension","Inclusion Criteria:\n\nPart A and B participants are eligible to be included in the study only if all of the following criteria apply:\n\n1. Male or female at birth, between 1 to \\\u003C18 years of chronological age at the time of signing the Informed Consent Form (ICF).\n2. Have a medically confirmed diagnosis of classic CAH due to 21-hydroxylase deficiency (21-OHD) based on standard medically accepted criteria such as elevated 17-OHP level, confirmed CYP21A2 genetic testing, positive newborn screening with confirmatory second tier testing, or cosyntropin stimulation.\n3. Participants must have an elevated morning serum A4 level \\>ULN during Screening obtained prior to morning glucocorticoid (GC) administration.\n4. Participants must be on a stable supraphysiologic GC replacement therapy for at least one month prior to Screening.\n5. Compliance, as judged per Investigator discretion, with GC replacement and mineralocorticoid replacement (if applicable) regimen documented during the Screening Period.\n6. Biochemical euthyroidism as determined by the Investigator.\n\nPart C inclusion criteria require participants to complete treatment in either Part A or Part B and in the Investigator's opinion it would benefit the participant to continue in Part C, regardless of age.\n\nExclusion Criteria:\n\nPart A and Part B: Individuals in Part A and Part B who meet any of the following criteria will be excluded from participation in this study:\n\n1. Diagnosis of any form of CAH other than classic 21-OHD.\n2. Participants treated with other GCs within 30 days of Screening.\n3. Stress dose of GC therapy within 2 weeks of start of Screening, defined as any dose above the normal maintenance dose, including but not limited to intravenous (IV) or intramuscular (IM) hydrocortisone.\n4. Use of growth hormones within 1 week of start of Screening for short acting, or within 6 weeks of start of Screening for long acting.\n5. Use of a corticotropin-releasing factor receptor antagonist within 14 days of Screening.\n6. History of cancer excluding cured\u002Ftreated dermal squamous or basal cell carcinoma or cervical carcinoma in situ.\n7. Abnormal sleep\u002Fwake cycles (as determined by the Investigator).\n8. Female participants who are pregnant or lactating.\n9. Participants who have been dosed with an investigational drug (including atumelnant) in any prior clinical study within 60 days or 5 half-lives (whichever is longer) prior to the first dose.\n10. Individuals in Part C who do not meet the Part C Inclusion Criteria.","1 Year","17 Years",{"count":84,"type":21},153,[55,86],"PHASE3","The purpose of this study is to evaluate the safety, efficacy, pharmacokinetics (PK), and pharmacodynamics (PD) of atumelnant treatment in pediatric participants with classic congenital adrenal hyperplasia (CAH).",[25,58],[25,60,61,90,91,92],"Atumelnant","Pediatric","Balance-CAH","2026-06-12",{"date":95,"type":33},"2026-06-16",{"date":97,"type":33},"2026-01-22",{"date":99,"type":21},"2030-03",{"name":71,"class":72},35,{"id":103,"slug":104,"hasResults":11,"nctId":105,"briefTitle":106,"officialTitle":107,"acronym":4,"eligibilityCriteria":108,"healthyVolunteers":11,"sex":17,"minAge":109,"maxAge":50,"enrollmentInfo":110,"targetDuration":4,"studyType":53,"phases":112,"briefSummary":113,"conditions":114,"keywords":115,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":118,"lastUpdatePostDateStruct":119,"startDateStruct":121,"completionDateStruct":123,"leadSponsor":125,"locationsCount":126},"100604026","phase-3-a-study-to-evaluate-atumelnant-in-adults-with-congenital-adrenal-hyperplasia-100604026","NCT07144163","A Study to Evaluate Atumelnant in Adults With Congenital Adrenal Hyperplasia","A Randomized, Double-Blind, Multicenter, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Atumelnant in Adult Participants With Classic Congenital Adrenal Hyperplasia (Calm-CAH)","Inclusion Criteria:\n\n1. Male or female, between ≥18 to \\\u003C75 years of age at the time of signing the ICF.\n2. Willing and able to understand and adhere to the study procedures as specified in the protocol and comply with the study treatment.\n3. Have classic CAH due to 21-OHD confirmed by the Investigator.\n4. Participants with Visit 2 levels of morning serum A4 as follows:\n\n   * A4 \\>ULN and treated with \\\u003C11 mg\u002Fm2\u002Fday (physiologic) GC doses\n   * OR normal A4 (\\>0.5xULN to ≤1xULN) and treated with ≥14 mg\u002Fm2\u002Fday GC doses\n   * OR A4 \\>ULN and treated with ≥11 mg\u002Fm2\u002Fday GC doses.\n5. On a stable (defined as no dose change of \\>5 mg\u002Fday hydrocortisone equivalent within 2 months prior to Screening) regimen of GC replacement (e.g., hydrocortisone, prednisolone, prednisone, methylprednisolone, meprednisone, dexamethasone, cortisone acetate) at the time of informed consent.\n6. If treated with mineralocorticoids (fludrocortisone), the dose should be stable for at least 1 month prior to Screening without orthostatic hypotension, and with serum sodium and potassium in the normal range.\n7. If on estrogen therapy (any route), the dose must be stable for at least 3 months prior to Screening.\n\nExclusion Criteria:\n\n1. Diagnosis of any form of CAH other than classic 21-OHD.\n2. History of bilateral adrenalectomy, hypopituitarism, or other condition requiring chronic GC therapy.\n3. Clinically significant medical condition or abnormal laboratory tests, as judged by the Investigator, other than CAH.\n4. Concomitant mental condition rendering him\u002Fher unable to understand the nature, scope, and possible consequences of the study, and\u002For evidence of poor compliance with medical instructions.\n5. History of cancer excluding cured\u002Ftreated dermal squamous or basal cell carcinoma or cervical carcinoma in situ.\n6. Women who are pregnant or lactating or, if of childbearing potential, who are unwilling to use highly effective contraception as described in this study. Male participants who are unwilling to use highly effective contraception as described in this study.\n7. Known history of, or concern for, risk of hypersensitivity reaction to atumelnant or any of its excipients.\n8. Participants with an increased risk of developing adrenal insufficiency as judged by the Investigator.\n9. Severe erythrocytosis as judged by the Investigator.\n10. Use of atumelnant prior to screening.","18 Years",{"count":111,"type":21},150,[86],"The purpose of this study is to evaluate the efficacy, safety, PK, and PD of atumelnant in adults with classic CAH due to 21-OHD.",[25,58],[25,60,61,90,116,117],"Adult","Calm-CAH","2026-06-02",{"date":120,"type":33},"2026-06-04",{"date":122,"type":33},"2025-12-11",{"date":124,"type":21},"2027-05",{"name":71,"class":72},45,{"id":128,"slug":129,"hasResults":11,"nctId":130,"briefTitle":131,"officialTitle":132,"acronym":4,"eligibilityCriteria":133,"healthyVolunteers":11,"sex":17,"minAge":134,"maxAge":135,"enrollmentInfo":136,"targetDuration":4,"studyType":53,"phases":138,"briefSummary":139,"conditions":140,"keywords":141,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":143,"lastUpdatePostDateStruct":144,"startDateStruct":146,"completionDateStruct":148,"leadSponsor":150,"locationsCount":4},"100634175","phase-2-safety-tolerability-pharmacokinetics-and-pharmacodynamics-of-crinecerfont-in-participants-with-classic-congenital-adrenal-hyperplasia-cah-who-are-less-than-4-years-old-100634175","NCT07536269","Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Crinecerfont in Participants With Classic Congenital Adrenal Hyperplasia (CAH) Who Are Less Than 4 Years Old","A Phase 2, Open-Label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Crinecerfont in Pediatric Participants 3 Months to \u003C4 Years of Age With Classic Congenital Adrenal Hyperplasia","Key Inclusion Criteria:\n\n* Have a medically confirmed diagnosis of classic CAH (salt wasting or simple virilizing) due to 21-hydroxylase deficiency (21-OHD)\n* Have received at least 3 months of hydrocortisone treatment before Day 1, with a stable dose for at least 4 weeks before screening.\n* Have a body weight of at least 4.5 kilograms (kg) at screening.\n* Have a newborn screen that is otherwise normal except for elevated 17-OHP or any other abnormality on newborn screen that was cleared upon evaluation by a pediatric specialist.\n\nKey Exclusion Criteria:\n\n* Have a known or suspected diagnosis of any of the other forms of classic CAH.\n* Have any condition besides CAH that requires chronic daily therapy with orally administered steroids.\n* Have any other clinically significant medical condition or chronic disease.\n\nNote: Other protocol-defined inclusion and exclusion criteria may apply.","3 Months","47 Months",{"count":137,"type":21},20,[55],"The main objective of this study is to assess the safety and tolerability of crinecerfont in pediatric participants 3 months to \\\u003C4 years of age with CAH.",[25],[25,60,142,91],"Crinecerfont","2026-04-10",{"date":145,"type":33},"2026-04-17",{"date":147,"type":21},"2026-04",{"date":149,"type":21},"2028-03",{"name":151,"class":72},"Neurocrine Biosciences",{"id":153,"slug":154,"hasResults":11,"nctId":155,"briefTitle":156,"officialTitle":157,"acronym":4,"eligibilityCriteria":158,"healthyVolunteers":11,"sex":17,"minAge":109,"maxAge":159,"enrollmentInfo":160,"targetDuration":4,"studyType":53,"phases":162,"briefSummary":164,"conditions":165,"keywords":4,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":166,"lastUpdatePostDateStruct":167,"startDateStruct":169,"completionDateStruct":171,"leadSponsor":173,"locationsCount":175},"100490732","phase-1-a-trial-of-lu-ag13909-in-participants-with-congenital-adrenal-hyperplasia-100490732","NCT05669950","A Trial of Lu AG13909 in Participants With Congenital Adrenal Hyperplasia","A Multi-site, Open-label, Sequential-group, Multiple-dose Trial to Investigate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamic Effects of Lu AG13909 in Participants With Congenital Adrenal Hyperplasia","Inclusion Criteria:\n\nParts A and B:\n\n* Confirmed diagnosis of 21-hydroxylase deficiency CAH (based on a pathogenic CYP21A2 variant and\u002For elevated 17-OHP).\n* Morning (pre-glucocorticoid \\[GC\\] replacement dose) blood concentrations of 17-OHP \\>4-times upper limit of normal (ULN).\n* Body mass index (BMI) ≥18.5 kilograms (kg)\u002Fsquare meter (m\\^2) (minimum 50 kg) and ≤40 kg\u002Fm\\^2.\n* Stable GC replacement therapy for ≥1 month prior to the Screening Visit.\n* For the salt-wasting form of CAH, the participant must have been on a stable dose of mineralocorticoid replacement for ≥3 months prior to the Screening Visit.\n* Apart from CAH, the participant is generally healthy in the opinion of the investigator and based on medical history, physical examination, vital signs, ECGs, and the results of the safety laboratory tests.\n\nPart C:\n\n* Confirmed diagnosis of 21-hydroxylase deficiency CAH (based on a pathogenic CYP21A2 variant and\u002For elevated 17-OHP).\n* For Cohort C1 only: Morning (pre-GC replacement dose) blood concentrations of androgens (A4) \\> ULN for age and sex.\n* For Cohort C2 only: Morning (pre-GC replacement dose) blood concentrations of androgens (A4) ≤ ULN for age and sex and the participant is treated with high doses of GC.\n* Stable GC replacement therapy for ≥1 month prior to the Screening Visit.\n* For the salt-wasting form of CAH, the participant must have been on a stable dose of mineralocorticoid replacement for ≥1 month prior to the Screening Visit.\n\nExclusion Criteria:\n\n* The participant is pregnant or breastfeeding.\n* The participant has a clinically significant abnormal laboratory value, electrocardiogram (ECG) parameter, or vital signs value, or other safety findings at the Screening Visit that indicate a potential risk for the participant if enrolled, in the opinion of the investigator.\n* The participant has a history of known hypersensitivity or intolerance to Lu AG13909 or its excipients.\n\nPart C Only:\n\n* The participant has received at least one dose of Lu AG13909 in Part A or Part B.\n\nOther inclusion and exclusion criteria may apply.","70 Years",{"count":161,"type":21},42,[163,55],"PHASE1","This trial will evaluate the effects of different doses of Lu AG13909 in adult participants with congenital adrenal hyperplasia, also called CAH. CAH is a rare genetic disorder that affects a person's ability to produce certain hormones. The main goals of this trial are to learn about the safety and tolerability of Lu AG13909, how Lu AG13909 behaves in the body, and how the body responds to Lu AG13909.",[25],"2026-03-06",{"date":168,"type":33},"2026-03-09",{"date":170,"type":33},"2022-12-19",{"date":172,"type":21},"2027-12-31",{"name":174,"class":72},"H. Lundbeck A\u002FS",17,{"id":177,"slug":178,"hasResults":11,"nctId":179,"briefTitle":180,"officialTitle":181,"acronym":4,"eligibilityCriteria":182,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":183,"targetDuration":185,"studyType":22,"phases":4,"briefSummary":186,"conditions":187,"keywords":213,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":219,"lastUpdatePostDateStruct":220,"startDateStruct":222,"completionDateStruct":224,"leadSponsor":226,"locationsCount":41},"100560175","institutional-registry-of-rare-diseases-100560175","NCT06573723","Institutional Registry of Rare Diseases","Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)","Inclusion Criteria:\n\n* Clinical and\u002For molecular diagnosis of any of the following rare diseases: Amyloidosis, Sarcoidosis, Phacomatosis, Pheochromocytoma, Paraganglioma, Von Hippel-Lindau Disease, Immunoglobulin G4-Related Disease, Demyelinating Diseases, Inborn Errors of Metabolism, Eosinophilic Gastrointestinal Disorders, Hypertrophic Cardiomyopathy, Gaucher Disease, Congenital Adrenal Hyperplasia, Hereditary Angioedema, Pulmonary Hypertension, Wilson Disease, Vascular Anomalies, Mastocytosis, Multiple Endocrine Neoplasia, Inflammatory Bowel Diseases, Prader-Willi Syndrome, Hirschsprung Disease, or Cushing Syndrome.\n* Must be followed at Hospital Italiano de Buenos Aires.\n\nExclusion Criteria:\n\n\\- Refusal to participate in the study or in the informed consent process.",{"count":184,"type":21},380,"10 Years","The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD).\n\nMoreover, the specific goals are to generate an alert system for possible cases of RD with data from the electronic medical record, to describe the occurrence of RD in the evaluated population, to characterize the population, to describe patterns of diagnosis and treatment of RD present at the time, and to explore patient-reported outcomes.",[188,189,190,191,192,193,194,195,196,197,198,199,200,25,201,202,203,204,205,206,207,208,209,210,211,212],"Rare Diseases","Amyloidosis","Sarcoidosis","Phacomatosis","Pheochromocytoma","Paraganglioma","Von Hippel-Lindau Disease","Immunoglobulin G4-Related Disease","Demyelinating Diseases","Inborn Errors of Metabolism","Eosinophilic Gastrointestinal Disorders","Hypertrophic Cardiomyopathy","Gaucher Disease","Hereditary Angioedema","Pulmonary Hypertension","Wilson Disease","Vascular Anomalies","Mastocytosis","Multiple Endocrine Neoplasia","Inflammatory Bowel Diseases","Prader-Willi Syndrome","Hirschsprung Disease","Cushing Syndrome","HHT","Hemorrhagic Hereditary Telangiectasia",[214,215,216,191,217,218,194,195,196,197,198,199,200,25,201,202,203,204,205,206,207,208,209,210,212],"rare diseases","amyloidosis","sarcoidosis","pheochromocytoma","paraganglioma","2026-01-12",{"date":221,"type":33},"2026-01-14",{"date":223,"type":33},"2024-07-01",{"date":225,"type":21},"2034-12-31",{"name":227,"class":40},"Hospital Italiano de Buenos Aires",{"id":229,"slug":230,"hasResults":11,"nctId":231,"briefTitle":232,"officialTitle":233,"acronym":234,"eligibilityCriteria":235,"healthyVolunteers":11,"sex":17,"minAge":109,"maxAge":4,"enrollmentInfo":236,"targetDuration":4,"studyType":53,"phases":237,"briefSummary":239,"conditions":240,"keywords":241,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":244,"lastUpdatePostDateStruct":245,"startDateStruct":247,"completionDateStruct":249,"leadSponsor":250,"locationsCount":41},"100344143","phase-4-congenital-adrenal-hyperplasia-once-daily-hydrocortisone-treatment-100344143","NCT03760835","Congenital Adrenal Hyperplasia Once Daily Hydrocortisone Treatment","Congenital Adrenal Hyperplasia: Innovative Once Daily Dual Release Hydrocortisone Treatment","CareOnTIME","Inclusion Criteria:\n\n* males and females aged \\>18 years;\n* established diagnosis of adrenal insufficiency in congenital adrenal hyperplasia due to 21-hydroxylase deficiency;\n* stably treated with conventional glucocorticoids, available to change their regimen according to random allocation\n* written informed consent\u002Fassent to participate in the study in compliance with local regulations.\n\nExclusion Criteria:\n\n* clinical or laboratory signs of severe cerebral, respiratory, hepatobiliary or pancreatic diseases, renal dysfunction, gastrointestinal emptying, or motility disturbances (i.e. chronic diarrhea), significant psychiatric illnesses;\n* history of\u002For current alcohol and\u002For drug abuse;\n* night shift workers;\n* underlying diseases that could necessitate treatment with glucocorticoids;\n* therapies with hepatic enzyme induction drugs interfering with glucocorticoid kinetics, or immunosuppressive steroid therapy;\n* patients with a documented intolerance\u002Fknown hypersensitivity to dual release hydrocortisone;\n* vulnerable populations, such as elderly, cancer patients, pregnant and lactating women;\n* history of non-compliance to medical regimens, or potentially unreliable patients",{"count":111,"type":21},[238],"PHASE4","This is a controlled, open study designed to compare the effects of dual-release hydrocortisone preparations versus conventional glucocorticoid therapy on clinical, anthropometric parameters, metabolic syndrome, hormonal profile, bone status, quality of life, reproductive, sexual and psychological functions and treatment compliance in patients affected by congenital adrenal hyperplasia due to 21 OH deficiency.",[25],[27,242,243],"glucocorticoid treatment","dual release hydrocortisone","2025-09-10",{"date":246,"type":33},"2025-09-16",{"date":248,"type":33},"2016-08-11",{"date":172,"type":21},{"name":251,"class":40},"Federico II University",{"id":253,"slug":254,"hasResults":11,"nctId":255,"briefTitle":256,"officialTitle":256,"acronym":4,"eligibilityCriteria":257,"healthyVolunteers":11,"sex":258,"minAge":109,"maxAge":4,"enrollmentInfo":259,"targetDuration":185,"studyType":22,"phases":4,"briefSummary":261,"conditions":262,"keywords":263,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":265,"lastUpdatePostDateStruct":266,"startDateStruct":268,"completionDateStruct":270,"leadSponsor":272,"locationsCount":41},"100574064","electronic-registry-of-male-patients-with-congenital-adrenal-hyperplasia-21-hydroxylase-deficiency-100574064","NCT06754423","Electronic Registry of Male Patients With Congenital Adrenal Hyperplasia 21-hydroxylase Deficiency","Inclusion Criteria:\n\n* Male gender;\n* Age 18 years or older;\n* Newly or previously diagnosed patients with CAH from 21-hydroxylase enzyme deficiency, in whom CYP21A2 gene analysis for determination of pathological mutations and genotype has already been performed;\n* Obtaining informed consent.\n\nExclusion Criteria:\n\n* Patients with an unsure diagnosis of CAH;\n* Patients with CAH caused by (or with the co-presence of) pathogenic molecular alterations other than mutations in the CYP21A2 gene.","MALE",{"count":260,"type":21},30,"Observational, retrospective, prospective, single-center cohort study. Participation in the registry will be offered consecutively to any patient with the disease, newly diagnosed or with documented diagnosis made at another center, at any stage of the disease. Laboratory tests, imaging study for patient monitoring and care procedures all will be conducted in accordance with normal clinical practice.",[25],[264],"Congenital adrenal hyperplasia","2024-12-30",{"date":267,"type":33},"2024-12-31",{"date":269,"type":33},"2022-06-24",{"date":271,"type":21},"2032-12-31",{"name":273,"class":40},"IRCCS Azienda Ospedaliero-Universitaria di Bologna",{"id":275,"slug":276,"hasResults":11,"nctId":277,"briefTitle":278,"officialTitle":279,"acronym":4,"eligibilityCriteria":280,"healthyVolunteers":11,"sex":258,"minAge":281,"maxAge":109,"enrollmentInfo":282,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":283,"conditions":284,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":286,"lastUpdatePostDateStruct":287,"startDateStruct":289,"completionDateStruct":291,"leadSponsor":293,"locationsCount":4},"100559445","testicular-adrenal-rest-tumor-in-congenital-adrenal-hyperplasia-patients-attending-assuit-university-children-hospital-100559445","NCT06564220","Testicular Adrenal Rest Tumor in Congenital Adrenal Hyperplasia Patients Attending Assuit University Children Hospital","Testicular Adrenal Rest Tumor in Congenital Adrenal Hyperplasia Patients Attending Assiut University Children Hospital","Inclusion Criteria:\n\n* All male patients diagnosed as congenital adrenal hyperplasia based on clinical manifestations and laboratory investigations from age of 4 years to age of 18 years.\n\nExclusion Criteria:\n\n* Patients with other adrenal insufficiency cause and Congenital adrenal hyperplasia that progressed to true precocious puberty","4 Years",{"count":260,"type":21},"assessment of the risk factors contributing for TART development in a male child with congenital adrenal hyperplasia.",[285,25],"Testicular Adrenal Rest Tumor","2024-08-19",{"date":288,"type":33},"2024-08-21",{"date":290,"type":21},"2024-10",{"date":292,"type":21},"2025-12",{"name":294,"class":40},"Assiut University",{"id":296,"slug":297,"hasResults":11,"nctId":298,"briefTitle":299,"officialTitle":300,"acronym":301,"eligibilityCriteria":302,"healthyVolunteers":16,"sex":17,"minAge":303,"maxAge":304,"enrollmentInfo":305,"targetDuration":4,"studyType":53,"phases":307,"briefSummary":309,"conditions":310,"keywords":319,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":323,"lastUpdatePostDateStruct":324,"startDateStruct":326,"completionDateStruct":328,"leadSponsor":330,"locationsCount":332},"100381852","growing-up-with-the-young-endocrine-support-system-yess-100381852","NCT04252001","Growing up With the Young Endocrine Support System (YESS!)","Growing up With the Young Endocrine Support System (YESS!): Innovative E-technology to Improve Transition From Paediatric to Adult Care","YESS","Inclusion Criteria:\n\n* Aged 15 to 20 years old.\n* Diagnosed with congenital adrenal hyperplasia, hypogonadotropic hypogonadism, Turner syndrome, Klinefelter syndrome, growth hormone deficiency, combined pituitary hormone deficiency, Androgen insensitivity syndrome, thyroid dysgenesis or Addison's disease\n\nExclusion Criteria:\n\n* Lack of a mobile phone or tablet.\n* Intellectual disability or language barrier leading to inability to use the YESS! game or the control game.","15 Years","20 Years",{"count":306,"type":21},160,[308],"NA","Transition from paediatric to adult endocrinology is a challenge for adolescents, families and doctors. Up to 25% of young adults with chronic endocrine disorders are lost to follow-up ('drop-out') once the young adult moves out of paediatric care. Non-attendance and sub-optimal medical self-management can lead to serious and expensive medical complications. In a pilot study, adolescents suggested the use of e-technology to become more involved in the transition process. The investigators have designed and developed the YESS! game, a tool to help improve medical self-management in adolescents with chronic endocrine disorders. The hypothesis is that adolescents playing the YESS! game will show a larger increase in self-management score during the first year of transition and will have a lower drop-out rate at the adult endocrine outpatient clinic (OPC), compared to adolescents who do not play the game.",[25,311,312,313,314,315,316,317,318],"Hypogonadotropic Hypogonadism","Growth Hormone Deficiency","Combined Pituitary Hormone Deficiency","Turner Syndrome","Klinefelter Syndrome","Addison's Disease","Androgen Insensitivity Syndrome","Thyroid Dysgenesis",[320,321,322],"Serious game","Endocrinology","Transition","2023-09-06",{"date":325,"type":33},"2023-09-07",{"date":327,"type":21},"2024-12-01",{"date":329,"type":21},"2026-12-01",{"name":331,"class":40},"dr. Laura C. G. de Graaff-Herder",7,{"id":334,"slug":335,"hasResults":11,"nctId":336,"briefTitle":337,"officialTitle":338,"acronym":339,"eligibilityCriteria":340,"healthyVolunteers":11,"sex":17,"minAge":109,"maxAge":4,"enrollmentInfo":341,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":343,"conditions":344,"keywords":4,"overallStatus":63,"whyStopped":4,"lastUpdateSubmitDate":375,"lastUpdatePostDateStruct":376,"startDateStruct":377,"completionDateStruct":379,"leadSponsor":381,"locationsCount":41},"100398068","growing-up-with-rare-genetic-syndromes-100398068","NCT04463316","GROWing Up With Rare GENEtic Syndromes","GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age","GROW UR GENES","Inclusion Criteria:\n\n* Patients with rare syndromes or rare congenital diseases visiting the multidisciplinary outpatient clinic for patients with rare diseases at the department of endocrinology, internal medicine, Erasmus Medical Center.\n\nExclusion Criteria:\n\n* None",{"count":342,"type":21},600,"Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists.\n\nIncreased life expectancy Although many genetic syndromes used to cause premature death, improvement of medical care has improved life expectancy. More and more patients are now reaching adult age, and the complexity of the syndrome persists into adulthood. However, until recently, multidisciplinary care was not available for adults with rare genetic syndromes. Ideally, active and well-coordinated health management is provided to prevent, detect, and treat comorbidities that are part of the syndrome. However, after transition from pediatric to adult medical care, patients and their parents often report fragmented poor quality care instead of adequate and integrated health management. Therefore, pediatricians express the urgent need for adequate, multidisciplinary adult follow up of their pediatric patients with rare genetic syndromes.\n\nMedical guidelines for adults not exist and the literature on health problems in these adults is scarce. Although there is a clear explanation for the absence of adult guidelines (i.e. the fact that in the past patients with rare genetic syndromes often died before reaching adult age), there is an urgent need for an overview of medical issues at adult age, for 'best practice' and, if possible, for medical guidelines.\n\nThe aim of this study is to get an overview of medical needs of adults with rare genetic syndromes, including:\n\n1. comorbidities\n2. medical and their impact on quality of life\n3. medication use\n4. the need for adaption of medication dose according to each syndrome\n\nMethods and Results This is a retrospective file study. Analysis will be performed using SPSS version 23 and R version 3.6.0.",[208,345,346,347,348,25,349,350,351,352,314,353,354,355,356,357,358,359,360,361,362,363,364,365,366,367,368,369,370,371,372,373,374],"PWS-like Syndrome","Silver Russel Syndrome","Congenital Hypopituitarism","Klinefelter (XXY-)Syndrome","XXXXY Syndrome","XXYY Syndrome","XXXX Syndrome (Tetra-X Syndrome)","Disorders of Sex Development","46, XY DSD","Tuberous Sclerosis","Neurofibromatosis","Albright Hereditaire Osteodystrofie","Cornelia de Lange Syndrome","Saethre-Chotzen Syndrome","17p- Deletiesyndrome","VCF Syndrome","POLR3A Mutatie","Ohdo Syndrome","Jacobsen Syndrome \u002F 11 q Syndrome","Myrhe Syndrome","CHARGE Syndrome","1q25-32 Deletie","Bardet Biedl Syndrome","Rett Syndrome","22q11 Deletion Syndrome","Allan-Herndon-Dudley Syndrome","Kallmann Syndrome","Rare Bone Disorders","Noonan Syndrome","Williams-Beuren Syndrome","2023-09-04",{"date":323,"type":33},{"date":378,"type":33},"2018-10-01",{"date":380,"type":21},"2030-01-01",{"name":331,"class":40}]