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ClinicalTrials.gov public records Last synced Oct 24, 2026, 9:37 AM EDT

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Showing 1105–1128 of 8,007 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetics/Birth Defects Clear all
Terminated Phase 4 Interventional Results available

A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe Disease

NCT01597596
View directory record Official record
Conditions
Pompe Disease (Infantile-Onset), Glycogen Storage Disease Type II (GSD II), Glycogenosis 2, Acid Maltase Deficiency
Interventions
alglucosidase alfa
Biological
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
Up to 12 Months
Enrollment
4 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2014
U.S. locations
14
States / cities
Little Rock, Arkansas • Oakland, California • Gainsville, Florida + 11 more
Source: ClinicalTrials.gov public record
Updated Jan 18, 2016 · Synced Oct 24, 2026, 9:37 AM EDT
Active, not recruiting No phase listed Observational

Glucose Metabolism in Sickle Cell Disease

NCT02922296
View directory record Official record
Conditions
Sickle Cell Disease, Diabetes Mellitus
Interventions
Not listed
Lead sponsor
University of Illinois at Chicago
Other
Eligibility
18 Years and older
Enrollment
75 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2029
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Sep 21, 2026 · Synced Oct 24, 2026, 9:37 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

Study of DCR-PHXC-101 in Normal Healthy Volunteers and Patients With Primary Hyperoxaluria

NCT03392896
View directory record Official record
Conditions
Primary Hyperoxaluria
Interventions
DCR-PHXC, Placebo
Drug
Lead sponsor
Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
Industry
Eligibility
6 Years and older
Enrollment
43 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2019
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Sep 19, 2024 · Synced Oct 24, 2026, 9:37 AM EDT
Active, not recruiting Phase 2 Interventional Results available

Azacitidine With or Without Lenalidomide or Vorinostat in Treating Patients With Higher-Risk Myelodysplastic Syndromes or Chronic Myelomonocytic Leukemia

NCT01522976
View directory record Official record
Conditions
Chronic Myelomonocytic Leukemia, Chronic Myelomonocytic Leukemia-1, Chronic Myelomonocytic Leukemia-2, Myelodysplastic Syndrome, Myelodysplastic Syndrome With Excess Blasts, Myelodysplastic Syndrome With Excess Blasts-1, Myelodysplastic Syndrome/Acute Myeloid Leukemia
Interventions
Azacitidine, Laboratory Biomarker Analysis, Lenalidomide, Vorinostat
Drug · Other
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
282 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2027
U.S. locations
280
States / cities
Birmingham, Alabama • Mobile, Alabama • Scottsdale, Arizona + 217 more
Source: ClinicalTrials.gov public record
Updated Sep 9, 2026 · Synced Oct 24, 2026, 9:37 AM EDT
Completed Not applicable Interventional Results available

A Pilot Study to Evaluate a Temporary Skin Substitute (Spincare® Matrix) for Wound Healing in RDEB Patients

NCT05944250
View directory record Official record
Conditions
Recessive Dystrophic Epidermolysis Bullosa
Interventions
Spincare matrix
Device
Lead sponsor
Stanford University
Other
Eligibility
6 Years to 65 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
1
States / cities
Redwood City, California
Source: ClinicalTrials.gov public record
Updated Sep 15, 2025 · Synced Oct 24, 2026, 9:37 AM EDT
Completed No phase listed Observational

Role of Interferon-gamma 1-b (IFN-γ) on Cells of the Innate Immune System: Functional, Biochemical and Gene Expression Studies in Patients With Chronic Granulomatous Disease

NCT03548818
View directory record Official record
Conditions
Chronic Granulomatous Disease
Interventions
Interferon Gamma-1B
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
5 Years to 60 Years
Enrollment
9 participants
Timeline
2018 – 2020
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Jan 22, 2021 · Synced Oct 24, 2026, 9:37 AM EDT
Completed Phase 4 Interventional Results available

Population Pharmacokinetics of Prolonged Infusion Meropenem in Cystic Fibrosis (CF) Children

NCT01429259
View directory record Official record
Conditions
Cystic Fibrosis, Pneumonia, Pseudomonas Aeruginosa Infection
Interventions
meropenem
Drug
Lead sponsor
Joseph Kuti
Other
Eligibility
6 Years to 17 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2014
U.S. locations
7
States / cities
Hartford, Connecticut • Indianapolis, Indiana • New York, New York + 4 more
Source: ClinicalTrials.gov public record
Updated Mar 20, 2018 · Synced Oct 24, 2026, 9:37 AM EDT
Active, not recruiting No phase listed Observational

A Study Providing Genetic Testing to Find Those Who May Have Primary Ciliary Dyskinesia for Potential Clinical Trials

NCT06172374
View directory record Official record
Conditions
Primary Ciliary Dyskinesia
Interventions
Sano Genetics Testing Kit
Genetic
Lead sponsor
ReCode Therapeutics
Industry
Eligibility
18 Years and older
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
1
States / cities
Menlo Park, California
Source: ClinicalTrials.gov public record
Updated May 11, 2025 · Synced Oct 24, 2026, 9:37 AM EDT
Recruiting Phase 1Phase 2 Interventional

A Phase 1/2 Trial of SP-101 for the Treatment of Cystic Fibrosis (CF)

NCT06526923
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
SP-101 and doxorubicin Cohort 1, SP-101 and doxorubicin Cohort 2
Combination Product
Lead sponsor
Spirovant Sciences, Inc.
Industry
Eligibility
18 Years to 65 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
4
States / cities
Kansas City, Kansas • Boston, Massachusetts • New York, New York + 1 more
Source: ClinicalTrials.gov public record
Updated Nov 25, 2024 · Synced Oct 24, 2026, 9:37 AM EDT
Recruiting Not applicable Interventional

Elevated Rate Pacing of Cardiac Amyloidosis

NCT07583823
View directory record Official record
Conditions
Cardiac Amyloidosis, Pacemaker
Interventions
Pacemaker Rate
Other
Lead sponsor
University of Minnesota
Other
Eligibility
18 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2026
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Oct 13, 2026 · Synced Oct 24, 2026, 9:37 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Non-Invasive Chromosomal Evaluation of Trisomy Study

NCT02201862
View directory record Official record
Conditions
Aneuploidy, Trisomy 21, Trisomy 18, Trisomy 13, Down Syndrome
Interventions
Not listed
Lead sponsor
Cindy Cisneros
Industry
Eligibility
18 Years to 60 Years · Female only
Enrollment
2,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2019
U.S. locations
3
States / cities
San Diego, California • Oaks, Pennsylvania • Chattanooga, Tennessee
Source: ClinicalTrials.gov public record
Updated Apr 30, 2020 · Synced Oct 24, 2026, 9:37 AM EDT
Completed No phase listed Observational

Clinical Biomarkers in Alpha-mannosidosis

NCT02141503
View directory record Official record
Conditions
Alpha-Mannosidosis
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
5 Years to 60 Years
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 3, 2019 · Synced Oct 24, 2026, 9:37 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 4, 2025 · Synced Oct 24, 2026, 9:37 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Hormonal Responses to a Mixed Meal in People With Cystic Fibrosis

NCT06163482
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Mixed meal
Other
Lead sponsor
University of Cincinnati
Other
Eligibility
18 Years to 45 Years
Enrollment
61 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2026
U.S. locations
1
States / cities
Cincinnati, Ohio
Source: ClinicalTrials.gov public record
Updated Aug 25, 2026 · Synced Oct 24, 2026, 9:37 AM EDT
Completed Phase 3 Interventional

Efficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Treated With Nusinersen or Risdiplam

NCT05156320
View directory record Official record
Conditions
Spinal Muscular Atrophy, Spinal Muscular Atrophy Type 3, Spinal Muscular Atrophy Type 2, SMA, Neuromuscular Diseases, Muscular Atrophy, Atrophy, Muscular Atrophy, Spinal, Neuromuscular Manifestations, Anti-myostatin
Interventions
Apitegromab, Placebo
Drug
Lead sponsor
Scholar Rock, Inc.
Industry
Eligibility
2 Years to 21 Years
Enrollment
188 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
26
States / cities
Birmingham, Alabama • Phoenix, Arizona • Los Angeles, California + 23 more
Source: ClinicalTrials.gov public record
Updated Jan 22, 2026 · Synced Oct 24, 2026, 9:37 AM EDT
Completed Phase 1 Interventional Results available

A Double-Blind, Multiple Ascending Dose Study to Assess Safety, Tolerability and Pharmacokinetics of DX-2930 in Hereditary Angioedema Participants

NCT02093923
View directory record Official record
Conditions
Hereditary Angioedema (HAE)
Interventions
DX-2930, Placebo
Drug
Lead sponsor
Shire
Industry
Eligibility
18 Years and older
Enrollment
38 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
12
States / cities
San Diego, California • Walnut Creek, California • Tampa, Florida + 9 more
Source: ClinicalTrials.gov public record
Updated May 27, 2021 · Synced Oct 24, 2026, 9:37 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Copper Histidine Therapy for Menkes Diseases

NCT00001262
View directory record Official record
Conditions
Kinky Hair Syndrome
Interventions
Copper Histidine
Drug
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
Not listed
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1990 – 2013
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 30, 2015 · Synced Oct 24, 2026, 9:37 AM EDT
Recruiting Phase 1 Interventional

A Gene Transfer Therapy Study to Evaluate the Safety of and Expression From Delandistrogene Moxeparvovec (SRP-9001) in Participants With Duchenne Muscular Dystrophy (DMD) - Non-Ambulatory Cohort

NCT04626674
View directory record Official record
Conditions
Duchenne Muscular Dystrophy
Interventions
delandistrogene moxeparvovec
Genetic
Lead sponsor
Sarepta Therapeutics, Inc.
Industry
Eligibility
2 Years and older · Male only
Enrollment
83 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2028
U.S. locations
12
States / cities
Little Rock, Arkansas • La Jolla, California • Los Angeles, California + 9 more
Source: ClinicalTrials.gov public record
Updated Sep 11, 2026 · Synced Oct 24, 2026, 9:37 AM EDT
Completed Phase 1 Interventional Accepts healthy volunteers

A Phase 1 Study to Evaluate the Relative Bioavailability of a VX-828 Tablet Formulation

NCT06861413
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
VX-828
Drug
Lead sponsor
Vertex Pharmaceuticals Incorporated
Industry
Eligibility
18 Years to 55 Years
Enrollment
68 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025
U.S. locations
1
States / cities
Tempe, Arizona
Source: ClinicalTrials.gov public record
Updated Jun 4, 2025 · Synced Oct 24, 2026, 9:37 AM EDT
Terminated Phase 3 Interventional Results available

Efficacy and Safety of Lixivaptan in the Treatment of Autosomal Dominant Polycystic Kidney Disease

NCT04064346
View directory record Official record
Conditions
Autosomal Dominant Polycystic Kidney, ADPKD
Interventions
Lixivaptan, Placebo
Drug
Lead sponsor
Palladio Biosciences
Industry
Eligibility
18 Years to 60 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
23
States / cities
Hoover, Alabama • Huntsville, Alabama • Scottsdale, Arizona + 20 more
Source: ClinicalTrials.gov public record
Updated Feb 6, 2023 · Synced Oct 24, 2026, 9:37 AM EDT
Recruiting Phase 3 Interventional

A Trial of Setmelanotide in Patients With Congenital Hypothalamic Obesity (Sub-study of NCT05774756)

NCT06760546
View directory record Official record
Conditions
Hypothalamic Obesity, Multiple Pituitary Hormone Deficiency Genetic Form, Septo-Optic Dysplasia, Optic Nerve Hypoplasia, Childhood-onset Combined Pituitary Hormone Deficiency, Pituitary Stalk Interruption Syndrome
Interventions
Setmelanotide, Placebo
Drug
Lead sponsor
Rhythm Pharmaceuticals, Inc.
Industry
Eligibility
4 Years and older
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
8
States / cities
Birmingham, Alabama • Aurora, Colorado • Chicago, Illinois + 5 more
Source: ClinicalTrials.gov public record
Updated Feb 12, 2026 · Synced Oct 24, 2026, 9:37 AM EDT
Not yet recruiting Not applicable Interventional Accepts healthy volunteers

Evaluate the Safety and Efficacy of AGE Serum in Post-menopausal Patients on Hormone Replacement Therapy Taking Glucagon-like Peptide-1 Agonist

NCT07558603
View directory record Official record
Conditions
Laxity; Skin
Interventions
On GLP1 plus HRT, On GLP1 Only
Drug
Lead sponsor
Goldman, Butterwick, Fitzpatrick and Groff
Other
Eligibility
45 Years to 65 Years · Female only
Enrollment
50 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Apr 30, 2026 · Synced Oct 24, 2026, 9:37 AM EDT
Recruiting Phase 1 Interventional Accepts healthy volunteers

FIH Study to Evaluate the Tolerability of PF-07832837 in Healthy Adults and Patients

NCT06564389
View directory record Official record
Conditions
Healthy Participants, Atopic Dermatitis
Interventions
PF-07832837, Placebo
Drug · Other
Lead sponsor
Pfizer
Industry
Eligibility
18 Years to 70 Years
Enrollment
119 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2027
U.S. locations
5
States / cities
Anaheim, California • San Diego, California • Miami, Florida + 2 more
Source: ClinicalTrials.gov public record
Updated Jul 22, 2026 · Synced Oct 24, 2026, 9:37 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Study to Evaluate the Long-Term Safety, Tolerability, and Biological Activity of ATYR1940 in Participants With Limb Girdle and Facioscapulohumeral Muscular Dystrophy (FSHD)

NCT02836418
View directory record Official record
Conditions
Facioscapulohumeral Muscular Dystrophy, Limb Girdle Muscular Dystrophy
Interventions
ATYR1940
Drug
Lead sponsor
aTyr Pharma, Inc.
Industry
Eligibility
16 Years to 25 Years
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
3
States / cities
Irvine, California • Stanford, California • Salt Lake City, Utah
Source: ClinicalTrials.gov public record
Updated Dec 22, 2023 · Synced Oct 24, 2026, 9:37 AM EDT