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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Completed Phase 2 Interventional Results available

A Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia

NCT02804178
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
ATR-101
Drug
Lead sponsor
Millendo Therapeutics, Inc.
Industry
Eligibility
18 Years to 80 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
6
States / cities
Baltimore, Maryland • Bethesda, Maryland • Ann Arbor, Michigan + 3 more
Source: ClinicalTrials.gov public record
Updated Mar 9, 2021 · Synced Jun 10, 2026, 2:11 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 Jun 10, 2026, 2:11 AM EDT
Terminated Not applicable Interventional Results available

SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation

NCT01434745
View directory record Official record
Conditions
Smith-Lemli-Opitz Syndrome
Interventions
Simvastatin, Lactose
Drug · Dietary Supplement
Lead sponsor
Oregon Health and Science University
Other
Eligibility
1 Year to 89 Years
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Sep 30, 2019 · Synced Jun 10, 2026, 2:11 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 Jun 10, 2026, 2:11 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

SPL Insufficiency Syndrome (SPLIS)/NPHS14: a SPLIS Observational Study and Patient Registry (International)

NCT04885179
View directory record Official record
Conditions
Sphingolipidoses, Enzyme Deficiency
Interventions
no intervention
Other
Lead sponsor
University of California, San Francisco
Other
Eligibility
Not listed
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2028
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Oct 23, 2025 · Synced Jun 10, 2026, 2:11 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 Jun 10, 2026, 2:11 AM EDT
Recruiting Phase 2 Interventional

Impact of 1 mg Osilodrostat Therapy on Mild Autonomous Cortisol Secretion (MACS)

NCT07104812
View directory record Official record
Conditions
Mild Autonomous Cortisol Secretion, Autonomous Cortisol Secretion (ACS)
Interventions
Osilodrostat 1 MG
Drug
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2027
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Feb 10, 2026 · Synced Jun 10, 2026, 2:11 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Clinical Evaluation of NeoPlex4 Assay and NeoPlex System

NCT01488721
View directory record Official record
Conditions
Adrenal Hyperplasia, Congenital, Congenital Hypothyroidism, Cystic Fibrosis
Interventions
Not listed
Lead sponsor
Luminex Corporation
Industry
Eligibility
1 Day to 7 Days
Enrollment
7,462 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2012
U.S. locations
3
States / cities
Albany, New York • Nashville, Tennessee • Taylorsville, Utah
Source: ClinicalTrials.gov public record
Updated Aug 16, 2012 · Synced Jun 10, 2026, 2:11 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

A Phase 1 Open-Label Study to Evaluate the Metabolism and Excretion of CC-223 and the Effect of Food on the Pharmacokinetics of CC-223 in Healthy Male Adult Subjects

NCT01611467
View directory record Official record
Conditions
Safety and Pharmacokinetics in Healthy Volunteer Subjects
Interventions
CC-223
Drug
Lead sponsor
Celgene
Industry
Eligibility
18 Years to 55 Years · Male only
Enrollment
18 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012
U.S. locations
1
States / cities
Madison, Wisconsin
Source: ClinicalTrials.gov public record
Updated Nov 11, 2019 · Synced Jun 10, 2026, 2:11 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Qualitative Research on Women With Congenital Adrenal Hyperplasia

NCT00559078
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Interview
Other
Lead sponsor
Lehigh University
Other
Eligibility
25 Years to 55 Years · Female only
Enrollment
16 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2007 – 2009
U.S. locations
1
States / cities
Bethlehem, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Nov 8, 2009 · Synced Jun 10, 2026, 2:11 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Determining the Long-Term Effects of Prenatal Dexamethasone Treatment in Children With 21-Hydroxylase Deficiency and Their Mothers

NCT00617292
View directory record Official record
Conditions
Adrenal Hyperplasia, Congenital
Interventions
Not listed
Lead sponsor
Office of Rare Diseases (ORD)
NIH
Eligibility
12 Years and older
Enrollment
233 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2008 – 2009
U.S. locations
2
States / cities
New York, New York • Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Dec 8, 2008 · Synced Jun 10, 2026, 2:11 AM EDT
Completed Phase 3 Interventional Results available

Three Drug Combination Therapy Versus Conventional Treatment of Children With Congenital Adrenal Hyperplasia

NCT00001521
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia (CAH)
Interventions
Fludrocortisone, Hydrocortisone, Letrozole, Flutamide, Testolactone
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
2 Years to 18 Years
Enrollment
66 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1995 – 2024
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 11, 2025 · Synced Jun 10, 2026, 2:11 AM EDT
Completed Phase 1Phase 2 Interventional

Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets

NCT00000102
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Nifedipine
Drug
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
14 Years to 35 Years
Healthy volunteers
Healthy volunteers not accepted
U.S. locations
1
States / cities
Charleston, South Carolina
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jun 10, 2026, 2:11 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism

NCT05047354
View directory record Official record
Conditions
Smith Lemli Opitz Syndrome, CHILD Syndrome, Lathosterolosis, Desmosterolosis
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
1 Day to 100 Years
Enrollment
250 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2031
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 8, 2026 · Synced Jun 10, 2026, 2:11 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 Jun 4, 2026 · Synced Jun 10, 2026, 2:11 AM EDT
Completed No phase listed Observational

Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans

NCT00017732
View directory record Official record
Conditions
Smith-Lemli-Opitz Syndrome
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Not listed
Enrollment
2,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2003
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Mar 3, 2008 · Synced Jun 10, 2026, 2:11 AM EDT
Completed No phase listed Observational

Kidney Transplantation in Patients With Cystinosis

NCT00074516
View directory record Official record
Conditions
Cystinosis
Interventions
Not listed
Lead sponsor
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
NIH
Eligibility
7 Years and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2014
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 5, 2017 · Synced Jun 10, 2026, 2:11 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 Jun 10, 2026, 2:11 AM EDT
Completed Phase 2 Interventional Results available

Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome

NCT00114634
View directory record Official record
Conditions
Smith-Lemli-Opitz Syndrome
Interventions
Egg yolk preparation with cholesterol, Egg substitute, without cholesterol
Dietary Supplement
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
4 Years to 17 Years
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2009
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jan 28, 2016 · Synced Jun 10, 2026, 2:11 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 Jun 10, 2026, 2:11 AM EDT
Terminated Phase 1 Interventional Results available

Androgen Reduction in Congenital Adrenal Hyperplasia, Phase 1

NCT02574910
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Abiraterone acetate
Drug
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
2 Years to 9 Years
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2023
U.S. locations
4
States / cities
Los Angeles, California • Bethesda, Maryland • Ann Arbor, Michigan + 1 more
Source: ClinicalTrials.gov public record
Updated Nov 3, 2025 · Synced Jun 10, 2026, 2:11 AM EDT
Completed Phase 3 Interventional Results available

A Study of the Efficacy, Safety and Tolerability of Chronocort in Treating CAH

NCT03062280
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Hydrocortisone
Drug
Lead sponsor
Neurocrine UK Limited
Industry
Eligibility
18 Years and older
Enrollment
91 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2022
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 27, 2024 · Synced Jun 10, 2026, 2:11 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 Jun 10, 2026, 2:11 AM EDT
Completed No phase listed Observational

Prenatal Screening For Smith-Lemli-Opitz Syndrome

NCT00070850
View directory record Official record
Conditions
Smith-Lemli-Opitz Syndrome, Pregnancy
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Female only
Enrollment
1,800 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2005
U.S. locations
1
States / cities
Scarborough, Maine
Source: ClinicalTrials.gov public record
Updated Jul 1, 2007 · Synced Jun 10, 2026, 2:11 AM EDT