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Showing 1–24 of 71 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Steroid Metabolic Diseases, Inborn Clear all
Completed No phase listed Observational

A Study to Determine Eligibility for CAH-301 (A Study of Gene Therapy for Classic Congenital Adrenal Hyperplasia (CAH) [NCT04783181])

NCT05101902
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Pre-Screening
Other
Lead sponsor
Adrenas Therapeutics Inc
Industry
Eligibility
18 Years and older
Enrollment
65 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Sep 18, 2024 · Synced Jul 24, 2026, 1:55 AM EDT
Completed No phase listed Observational

Adrenal Hyperplasia Among Young People With PCOS

NCT01313455
View directory record Official record
Conditions
Adrenal Hyperplasia, Polycystic Ovarian Syndrome, Oligomenorrhea, Obesity, Hyperandrogenism
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
16 Years to 29 Years · Female only
Enrollment
96 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2017
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 30, 2019 · Synced Jul 24, 2026, 1:55 AM EDT
Completed Phase 2 Interventional Results available

Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 in Adults With Congenital Adrenal Hyperplasia

NCT03525886
View directory record Official record
Conditions
CAH - Congenital Adrenal Hyperplasia
Interventions
NBI-74788
Drug
Lead sponsor
Neurocrine Biosciences
Industry
Eligibility
18 Years to 50 Years
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
6
States / cities
Aurora, Colorado • Indianapolis, Indiana • Ann Arbor, Michigan + 3 more
Source: ClinicalTrials.gov public record
Updated May 2, 2022 · Synced Jul 24, 2026, 1:55 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Tweens to Teens Project at Penn State

NCT01184651
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Questionnaires/Interviews
Behavioral
Lead sponsor
Penn State University
Other
Eligibility
10 Years to 13 Years · Female only
Enrollment
188 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2013
U.S. locations
1
States / cities
University Park, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 7, 2018 · Synced Jul 24, 2026, 1:55 AM EDT
Completed No phase listed Observational

Study of Smith-Lemli-Opitz Syndrome

NCT00001721
View directory record Official record
Conditions
Smith-Lemli-Opitz Syndrome
Interventions
Cholesterol Suspension, CRH, Cholesterol
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Not listed
Enrollment
130 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1998
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 22, 2026 · Synced Jul 24, 2026, 1:55 AM EDT
Withdrawn Phase 2 Interventional

Androgen Reduction in Congenital Adrenal Hyperplasia

NCT03548246
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Abiraterone acetate, Placebo, Hydrocortisone, Fludrocortisone
Drug
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
2 Years to 9 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
4
States / cities
Los Angeles, California • Bethesda, Maryland • Ann Arbor, Michigan + 1 more
Source: ClinicalTrials.gov public record
Updated Jan 31, 2023 · Synced Jul 24, 2026, 1:55 AM EDT
Not listed Phase 2 Interventional

Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome

NCT00004347
View directory record Official record
Conditions
Smith-Lemli-Opitz Syndrome
Interventions
diet
Behavioral
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1995
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 24, 2026, 1:55 AM EDT
Completed Not applicable Interventional

Examining Genetic Differences Among People With 21-Hydroxylase Deficiency

NCT00542841
View directory record Official record
Conditions
21-hydroxylase Deficiency
Interventions
Hydrocortisone withdrawal
Procedure
Lead sponsor
Maria I. New
Other
Eligibility
18 Years to 50 Years
Enrollment
99 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2009
U.S. locations
2
States / cities
New York, New York • Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Dec 13, 2015 · Synced Jul 24, 2026, 1:55 AM EDT
Completed Phase 3 Interventional

Long-term Safety Study of Chronocort in the Treatment of Participants With Congenital Adrenal Hyperplasia

NCT05299554
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Chronocort
Drug
Lead sponsor
Immedica Pharma AB
Industry
Eligibility
16 Years and older
Enrollment
76 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
11
States / cities
Los Angeles, California • Orange, California • Jacksonville, Florida + 8 more
Source: ClinicalTrials.gov public record
Updated Jun 17, 2026 · Synced Jul 24, 2026, 1:55 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome

NCT00272844
View directory record Official record
Conditions
Smith-Lemli-Opitz Syndrome
Interventions
crystalline cholesterol oil-based suspension
Drug
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1998 – 2011
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 19, 2017 · Synced Jul 24, 2026, 1:55 AM EDT
Completed Phase 2 Interventional Results available

Study to Evaluate the Safety and Efficacy of SPR001 in Subjects With Classic Congenital Adrenal Hyperplasia

NCT03687242
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia, CAH - Congenital Adrenal Hyperplasia, CAH - 21-Hydroxylase Deficiency
Interventions
SPR001
Drug
Lead sponsor
Spruce Biosciences
Industry
Eligibility
18 Years and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
8
States / cities
Orange, California • San Diego, California • Atlanta, Georgia + 5 more
Source: ClinicalTrials.gov public record
Updated Mar 31, 2025 · Synced Jul 24, 2026, 1:55 AM EDT
Completed Phase 2 Interventional Results available

Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 (Crinecerfont) in Pediatric Participants With Congenital Adrenal Hyperplasia

NCT04045145
View directory record Official record
Conditions
CAH - Congenital Adrenal Hyperplasia
Interventions
Crinecerfont
Drug
Lead sponsor
Neurocrine Biosciences
Industry
Eligibility
14 Years to 17 Years
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
6
States / cities
San Diego, California • Aurora, Colorado • Ann Arbor, Michigan + 3 more
Source: ClinicalTrials.gov public record
Updated Jul 17, 2024 · Synced Jul 24, 2026, 1:55 AM EDT
Recruiting Phase 1Phase 2 Interventional

A Trial of Lu AG13909 in Participants With Congenital Adrenal Hyperplasia

NCT05669950
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Lu AG13909
Drug
Lead sponsor
H. Lundbeck A/S
Industry
Eligibility
18 Years to 70 Years
Enrollment
42 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
Ann Arbor, Michigan
Source: ClinicalTrials.gov public record
Updated Mar 8, 2026 · Synced Jul 24, 2026, 1:55 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Decision Support for Parents Receiving Information About Child's Rare Disease

NCT01875640
View directory record Official record
Conditions
Disorder of Sex Development, Intersex Conditions, Congenital Adrenal Hyperplasia, Hypospadias
Interventions
Not listed
Lead sponsor
University of Michigan
Other
Eligibility
Not listed
Enrollment
63 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2013 – 2017
U.S. locations
4
States / cities
Los Angeles, California • Ann Arbor, Michigan • Philadelphia, Pennsylvania + 1 more
Source: ClinicalTrials.gov public record
Updated May 7, 2024 · Synced Jul 24, 2026, 1:55 AM EDT
Completed Phase 3 Interventional Results available

Comparison of Chronocort® With Standard Glucocorticoid Therapy in Patients With Congenital Adrenal Hyperplasia

NCT02716818
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Chronocort®, standard glucocorticoid therapy
Drug
Lead sponsor
Neurocrine UK Limited
Industry
Eligibility
18 Years and older
Enrollment
122 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2018
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 25, 2021 · Synced Jul 24, 2026, 1:55 AM EDT
Completed Phase 3 Interventional Results available

Comparison of Chronocort Versus Standard Hydrocortisone Replacement Therapy in Participants Aged 16 Years and Over With Congenital Adrenal Hyperplasia

NCT05063994
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Chronocort, Cortef, Placebo
Drug · Other
Lead sponsor
Neurocrine UK Limited
Industry
Eligibility
16 Years and older
Enrollment
55 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
11
States / cities
Los Angeles, California • Orange, California • Jacksonville, Florida + 8 more
Source: ClinicalTrials.gov public record
Updated Feb 24, 2025 · Synced Jul 24, 2026, 1:55 AM EDT
Completed Phase 2 Interventional Results available

Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia

NCT03257462
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia, CAH - Congenital Adrenal Hyperplasia
Interventions
SPR001
Drug
Lead sponsor
Spruce Biosciences
Industry
Eligibility
18 Years and older
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2019
U.S. locations
9
States / cities
Orange, California • San Diego, California • Melbourne, Florida + 6 more
Source: ClinicalTrials.gov public record
Updated Oct 21, 2025 · Synced Jul 24, 2026, 1:55 AM EDT
Completed Phase 2 Interventional Results available

Simvastatin Therapy in Smith-Lemli-Opitz Syndrome

NCT00064792
View directory record Official record
Conditions
Smith-Lemli-Opitz Syndrome
Interventions
Simvastatin Susp., OraPlus
Drug
Lead sponsor
Forbes Porter, M.D.
NIH
Eligibility
4 Years to 18 Years
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2010
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 5, 2014 · Synced Jul 24, 2026, 1:55 AM EDT
Completed Phase 2 Interventional Results available

Dexamethasone Treatment of Congenital Adrenal Hyperplasia

NCT00621985
View directory record Official record
Conditions
Adrenal Hyperplasia, Congenital
Interventions
dexamethasone, Hydrocortisone
Drug
Lead sponsor
Boston Children's Hospital
Other
Eligibility
2 Years to 9 Years
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2009
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Feb 22, 2011 · Synced Jul 24, 2026, 1:55 AM EDT
Completed Phase 1Phase 2 Interventional

Cholesterol in ASD: Characterization and Treatment

NCT00965068
View directory record Official record
Conditions
Autism, Asperger Disorder, PDD-NOS
Interventions
Cholesterol
Other
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
4 Years to 12 Years
Enrollment
44 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2013
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 4, 2018 · Synced Jul 24, 2026, 1:55 AM EDT
Active, not recruiting Phase 1Phase 2 Interventional

A Study of Gene Therapy for Classic Congenital Adrenal Hyperplasia (CAH)

NCT04783181
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
AAV BBP-631
Biological
Lead sponsor
Adrenas Therapeutics Inc
Industry
Eligibility
18 Years and older
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2029
U.S. locations
5
States / cities
Chicago, Illinois • Bethesda, Maryland • Minneapolis, Minnesota + 2 more
Source: ClinicalTrials.gov public record
Updated Dec 22, 2025 · Synced Jul 24, 2026, 1:55 AM EDT
Recruiting Phase 3 Interventional

A Study to Evaluate Atumelnant in Adults With Congenital Adrenal Hyperplasia

NCT07144163
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia, Classic Congenital Adrenal Hyperplasia
Interventions
Atumelnant, Placebo
Drug
Lead sponsor
Crinetics Pharmaceuticals Inc.
Industry
Eligibility
18 Years to 74 Years
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
9
States / cities
Los Angeles, California • Atlanta, Georgia • Chicago, Illinois + 6 more
Source: ClinicalTrials.gov public record
Updated Jun 3, 2026 · Synced Jul 24, 2026, 1:55 AM EDT
Completed Phase 2 Interventional Results available

Pilot Study to Characterize and Examine the Pharmacokinetics and Efficacy of Chronocort® in Adults With CAH

NCT01735617
View directory record Official record
Conditions
Endocrine Disease, Adrenal Insufficiency, Congenital Adrenal Hyperplasia
Interventions
Hydrocortisone Modified Release Capsules
Drug
Lead sponsor
Neurocrine UK Limited
Industry
Eligibility
18 Years and older
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2013
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated May 16, 2017 · Synced Jul 24, 2026, 1:55 AM EDT
Not listed Phase 2 Interventional

Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)

NCT01773278
View directory record Official record
Conditions
Smith-Lemli-Opitz Syndrome, Cone-Rod Dystrophy, Hearing Loss
Interventions
Antioxidants, Cholesterol
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
Up to 65 Years
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2025
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated May 7, 2024 · Synced Jul 24, 2026, 1:55 AM EDT