congenital adrenal hyperplasia
Information
- Disease name
- congenital adrenal hyperplasia
- Disease ID
- DOID:0050811
- Description
- "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency." [url:http\://omim.org/entry/201710, url:http\://www.genome.jp/dbget-bin/www_bget?ds\:H00216, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=418.0]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04490915 | Active, not recruiting | Phase 3 | Global Safety and Efficacy Registration Study of Crinecerfont for Congenital Adrenal Hyperplasia | November 16, 2020 | August 2027 |
| NCT04806451 | Active, not recruiting | Phase 3 | Global Safety and Efficacy Registration Study of Crinecerfont in Pediatric Patients With Classic Congenital Adrenal Hyperplasia (CAHtalyst Pediatric Study) | June 25, 2021 | August 2027 |
| NCT04544410 | Active, not recruiting | Phase 2 | A Ph2b to Evaluate Tildacerfont in the Reduction of Glucocorticoid Steroid Doses in Adult CAH | September 29, 2020 | September 2029 |
| NCT05063994 | Completed | Phase 3 | Comparison of Chronocort Versus Standard Hydrocortisone Replacement Therapy in Participants Aged 16 Years and Over With Congenital Adrenal Hyperplasia | December 13, 2021 | February 2, 2024 |
| NCT00519818 | Completed | Phase 1/Phase 2 | Comparison of Two Forms of Hydrocortisone in Patients With Congenital Adrenal Hyperplasia | August 2007 | May 2009 |
| NCT00559078 | Completed | Qualitative Research on Women With Congenital Adrenal Hyperplasia | July 2007 | May 2009 | |
| NCT00749593 | Completed | Study of UK Adults With Congenital Adrenal Hyperplasia. | August 2004 | December 2011 | |
| NCT01184651 | Completed | Tweens to Teens Project at Penn State | August 2009 | July 2013 | |
| NCT01735617 | Completed | Phase 2 | Pilot Study to Characterize and Examine the Pharmacokinetics and Efficacy of Chronocort® in Adults With CAH | December 2012 | December 2013 |
| NCT01807364 | Completed | Cardiovascular Risk Profile in Patients With Congenital Adrenal Hyperplasia | May 2011 | April 2016 | |
| NCT01875640 | Completed | Decision Support for Parents Receiving Information About Child's Rare Disease | June 2013 | December 2017 | |
| NCT03718234 | Completed | Phase 1 | Subcutaneous Hydrocortisone Children With Congenital Adrenal Hyperplasia | January 1, 2019 | February 23, 2023 |
| NCT00011791 | Completed | Catecholamine Reserve and Exercise Tolerance in Healthy Volunteers and Patients With Congenital Adrenal Hyperplasia | February 22, 2001 | May 10, 2011 | |
| NCT00151710 | Completed | N/A | Effects of Pioglitazone in Congenital Adrenal Hyperplasia | ||
| NCT03687242 | Completed | Phase 2 | Study to Evaluate the Safety and Efficacy of SPR001 in Subjects With Classic Congenital Adrenal Hyperplasia | September 6, 2018 | September 24, 2019 |
| NCT02716818 | Completed | Phase 3 | Comparison of Chronocort® With Standard Glucocorticoid Therapy in Patients With Congenital Adrenal Hyperplasia | February 22, 2016 | July 28, 2018 |
| NCT00000102 | Completed | Phase 1/Phase 2 | Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets | ||
| NCT02804178 | Completed | Phase 2 | A Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia | May 18, 2016 | August 17, 2017 |
| NCT02934399 | Completed | Dynamic Hormone Diagnostics in Endocrine Disease | October 2016 | November 14, 2023 | |
| NCT03019614 | Completed | Phase 1 | An Open Label Study in Healthy Volunteers to Compare Chronocort® to Hydrocortisone | March 2010 | April 2010 |
| NCT03051893 | Completed | Phase 1 | A Two-part, Study to Compare the Pharmacokinetics and Dose Proportionality of up to 6 Chronocort Formulations | February 2011 | April 2012 |
| NCT03062280 | Completed | Phase 3 | A Study of the Efficacy, Safety and Tolerability of Chronocort in Treating CAH | August 18, 2016 | July 13, 2022 |
| NCT03162159 | Completed | Adult Height Prediction in Congenital Adrenal Hyperplasia | September 2010 | December 31, 2018 | |
| NCT03257462 | Completed | Phase 2 | Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia | July 26, 2017 | May 28, 2019 |
| NCT05299554 | Enrolling by invitation | Phase 3 | Long-term Safety Study of Chronocort in the Treatment of Participants With Congenital Adrenal Hyperplasia | April 1, 2022 | December 31, 2024 |
| NCT04252001 | Not yet recruiting | N/A | Growing up With the Young Endocrine Support System (YESS!) | December 1, 2024 | December 1, 2026 |
| NCT06449456 | Recruiting | Exercise Capacity, Physical Fitness, and Physical Activity Levels in Children With CAH | February 22, 2024 | February 21, 2025 | |
| NCT04463316 | Recruiting | GROWing Up With Rare GENEtic Syndromes | October 1, 2018 | January 1, 2030 | |
| NCT04783181 | Recruiting | Phase 1/Phase 2 | A Study of Gene Therapy for Classic Congenital Adrenal Hyperplasia (CAH) | July 1, 2021 | November 2028 |
| NCT04890444 | Recruiting | China Adrenal Disease Registry | June 1, 2021 | April 30, 2026 | |
| NCT05101902 | Recruiting | A Study to Determine Eligibility for CAH-301 (A Study of Gene Therapy for Classic Congenital Adrenal Hyperplasia (CAH) [NCT04783181]) | July 1, 2021 | June 2024 | |
| NCT05128942 | Recruiting | Phase 2 | A Phase 2 Study to Evaluate the Safety, Efficacy and PK of Tildacerfont in Children With CAH | December 10, 2021 | December 2024 |
| NCT05663320 | Recruiting | N/A | A Study of a Virtual Education-Based Transition Intervention to Improve Transition Readiness in Adolescent and Young Adults With Congenital Adrenal Hyperplasia | June 23, 2024 | December 1, 2025 |
| NCT05669950 | Recruiting | Phase 1 | Study of Lu AG13909 in Participants With Congenital Adrenal Hyperplasia | December 19, 2022 | December 28, 2024 |
| NCT05687474 | Recruiting | Baby Detect : Genomic Newborn Screening | September 1, 2022 | August 31, 2025 | |
| NCT05907291 | Recruiting | Phase 2 | Evaluate the Safety, Efficacy, and Pharmacokinetics of CRN04894 in Participants With Congenital Adrenal Hyperplasia (TouCAHn) | July 3, 2023 | March 2025 |
| NCT02574910 | Suspended | Phase 1 | Androgen Reduction in Congenital Adrenal Hyperplasia, Phase 1 | August 1, 2017 | January 23, 2025 |
| NCT03669549 | Terminated | Phase 2 | Nevanimibe HCl for the Treatment of Classic CAH | July 11, 2018 | July 12, 2020 |
| NCT04457336 | Terminated | Phase 2 | A Ph2b to Evaluate Clinical Efficacy and Safety of Tildacerfont in Adult CAH | August 26, 2020 | May 23, 2024 |
| NCT05162950 | Unknown status | Effects and Importance of Epinephrine/Adrenalin Deficiency in CAH | September 1, 2020 | December 31, 2022 | |
| NCT04903587 | Unknown status | Gonadal Changes In Congenital Adrenal Hyperplasia Patients | October 1, 2021 | November 2022 | |
| NCT00172510 | Unknown status | Mutation Analysis of 17α-Hydroxylase | August 2004 | August 2005 | |
| NCT04536662 | Unknown status | Phase 4 | Comparisons of Different Forms of Glucocorticoid on the Recovery of Reproductive Function in Patients With 21α-hydroxylase Deficiency | October 1, 2020 | December 31, 2022 |
| NCT02552251 | Unknown status | Phase 2/Phase 3 | COrticosteroid in Congenital Adrenal Hyperplasia | August 2012 | |
| NCT03897504 | Unknown status | N/A | Surgical Evaluation of Using the Prepuce in Feminizing Genitoplasty | March 1, 2017 | January 1, 2020 |
| NCT04087148 | Unknown status | Linear Growth of Children With Congenital Adrenal Hyperplasia | September 24, 2019 | October 24, 2021 | |
| NCT02795871 | Unknown status | N/A | Prenatal Dex Study | October 2016 | December 2019 |
| NCT04293133 | Unknown status | Final Height in Patients With CAH | March 11, 2020 | September 11, 2020 | |
| NCT03760835 | Unknown status | Phase 4 | Congenital Adrenal Hyperplasia Once Daily Hydrocortisone Treatment | August 11, 2016 | December 31, 2023 |
| NCT03548246 | Withdrawn | Phase 2 | Androgen Reduction in Congenital Adrenal Hyperplasia | January 2023 | January 2026 |
| NCT03532022 | Withdrawn | Phase 3 | Open-label Comparison of Chronocort® Versus Standard Glucocorticoid Replacement Therapy | October 4, 2018 | July 9, 2021 |
| NCT02349503 | Withdrawn | Phase 1 | Safety, Pharmacokinetics and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia | February 2015 | October 2015 |
| NCT00485186 | Withdrawn | Gene Polymorphisms Influencing Steroid Synthesis and Action | June 2007 | June 2013 |
- Disase is a (Disease Ontology)
- DOID:1701
- Cross Reference ID (Disease Ontology)
- GARD:1465
- Cross Reference ID (Disease Ontology)
- GARD:1467
- Cross Reference ID (Disease Ontology)
- ICD10CM:E25
- Cross Reference ID (Disease Ontology)
- ICD9CM:255.2
- Cross Reference ID (Disease Ontology)
- MIM:201710
- Cross Reference ID (Disease Ontology)
- MIM:201810
- Cross Reference ID (Disease Ontology)
- MIM:201910
- Cross Reference ID (Disease Ontology)
- MIM:202010
- Cross Reference ID (Disease Ontology)
- MIM:202110
- Cross Reference ID (Disease Ontology)
- ORDO:418
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:154706003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0701163
- Exact Synonym (Disease Ontology)
- adrenal hyperplasia 1
- Exact Synonym (Disease Ontology)
- congenital lipoid adrenal hyperplasia
- Exact Synonym (Disease Ontology)
- lipoid CAH
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0008258
- OrphaNumber from OrphaNet (Orphanet)
- 418