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ClinicalTrials.gov public records Last synced Oct 13, 2026, 1:12 PM EDT

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Showing 289–312 of 9,405 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetic Disease Clear all
Recruiting No phase listed Observational

Rare Kidney Stone Consortium Patient Registry

NCT00588562
View directory record Official record
Conditions
Primary Hyperoxaluria, Dent Disease, Cystinuria, APRT Deficiency
Interventions
Not listed
Lead sponsor
Mayo Clinic
Other
Eligibility
0 Years to 100 Years
Enrollment
730 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2028
U.S. locations
3
States / cities
Rochester, Minnesota • New York, New York
Source: ClinicalTrials.gov public record
Updated Jul 10, 2026 · Synced Oct 13, 2026, 1:12 PM EDT
Completed Phase 2Phase 3 Interventional Accepts healthy volunteers Results available

Genetic Predictors of Raltegravir Penetration Into Cerebrospinal Fluid

NCT00729924
View directory record Official record
Conditions
HIV Infections
Interventions
Raltegravir
Drug
Lead sponsor
Vanderbilt University
Other
Eligibility
18 Years and older
Enrollment
40 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2008 – 2011
U.S. locations
1
States / cities
Nashville, Tennessee
Source: ClinicalTrials.gov public record
Updated Mar 3, 2015 · Synced Oct 13, 2026, 1:12 PM EDT
Completed Not applicable Interventional

Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With Skype

NCT02298270
View directory record Official record
Conditions
Neurofibromatosis, Neurofibromatosis I, Neurofibromatosis 2, Schwannomatosis
Interventions
The Relaxation Response Resiliency Program (3RP) via Skype
Behavioral
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
18 Years and older
Enrollment
65 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2015
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 23, 2016 · Synced Oct 13, 2026, 1:12 PM EDT
Completed Phase 2Phase 3 Interventional Results available

Arimoclomol Prospective Study in Participants Diagnosed With Niemann-Pick Disease Type C

NCT02612129
View directory record Official record
Conditions
Niemann-Pick Disease, Type C
Interventions
arimoclomol, Placebo
Drug
Lead sponsor
ZevraDenmark
Industry
Eligibility
2 Years to 18 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2024
U.S. locations
2
States / cities
Oakland, California • Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Nov 29, 2024 · Synced Oct 13, 2026, 1:12 PM EDT
Completed Phase 4 Interventional

Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome

NCT05657860
View directory record Official record
Conditions
Prader-Willi Syndrome, Aggression, Self-Injurious Behavior, Pathologic Processes, Behavioral Symptoms, Intellectual Disability, Neurobehavioral Manifestations, Neurologic Manifestations, Nervous System Diseases, Abnormalities, Multiple, Congenital Abnormalities, Chromosome Disorders, Genetic Diseases, Inborn, Obesity, Overnutrition, Nutrition Disorders, Antihypertensive Agents, Neurotransmitter Agents, Molecular Mechanisms of Pharmacological Action, Physiological Effects of Drugs, Skin-Picking
Interventions
Guanfacine Extended Release, Placebo
Drug · Other
Lead sponsor
Maimonides Medical Center
Other
Eligibility
6 Years to 35 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
1
States / cities
Brooklyn, New York
Source: ClinicalTrials.gov public record
Updated Aug 19, 2024 · Synced Oct 13, 2026, 1:12 PM EDT
Recruiting No phase listed Observational

Ganciclovir Resistant/Refractory Cytomegalovirus Infection in SOT Recipients and HSCT Patients

NCT05234723
View directory record Official record
Conditions
Cytomegalovirus Infections
Interventions
Not listed
Lead sponsor
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Other
Eligibility
18 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2028
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 15, 2026 · Synced Oct 13, 2026, 1:12 PM EDT
Completed Not applicable Interventional Results available

A Rehabilitation Program in Children With Sickle Cell Disease and Cognitive Deficits: a Pilot Study

NCT00895154
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
General Tutoring, Memory Training
Behavioral
Lead sponsor
Washington University School of Medicine
Other
Eligibility
8 Years to 18 Years
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2014
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated May 15, 2019 · Synced Oct 13, 2026, 1:12 PM EDT
Completed No phase listed Observational

Hormonal Regulation of Puberty and Fertility

NCT01511588
View directory record Official record
Conditions
Endocrine Disease, Infertility, Hypogonadism, Amenorrhea, Adolescents
Interventions
Not listed
Lead sponsor
National Institute of Environmental Health Sciences (NIEHS)
NIH
Eligibility
14 Years to 100 Years
Enrollment
111 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
2
States / cities
Bethesda, Maryland • Research Triangle Park, North Carolina
Source: ClinicalTrials.gov public record
Updated Oct 8, 2026 · Synced Oct 13, 2026, 1:12 PM EDT
Terminated Phase 3 Interventional

ARD-101 for Treatment of PWS: The Hunger Elimination or Reduction Objective Trial

NCT06828861
View directory record Official record
Conditions
Hyperphagia, Prader-Willi Syndrome
Interventions
Placebo, ARD-101
Drug
Lead sponsor
Aardvark Therapeutics, Inc.
Industry
Eligibility
7 Years and older
Enrollment
68 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
17
States / cities
Birmingham, Alabama • Encinitas, California • Orange, California + 14 more
Source: ClinicalTrials.gov public record
Updated Jun 30, 2026 · Synced Oct 13, 2026, 1:12 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Role of Antimicrobial Peptides in Host Defense Against Vaccinia Virus

NCT00407069
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
2 Years and older
Enrollment
286 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2005 – 2010
U.S. locations
1
States / cities
Denver, Colorado
Source: ClinicalTrials.gov public record
Updated Oct 18, 2016 · Synced Oct 13, 2026, 1:12 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Sudden Unexplained Death in Childhood (SUDC) Registry

NCT03109197
View directory record Official record
Conditions
Sudden Unexplained Death Syndrome, Sudden Unexplained Death in Childhood
Interventions
Biospecimin Collection
Other
Lead sponsor
NYU Langone Health
Other
Eligibility
11 Months to 100 Years
Enrollment
1,600 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2028
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Aug 28, 2026 · Synced Oct 13, 2026, 1:12 PM EDT
Withdrawn Phase 1 Interventional

Safety and Efficacy of HMI-203 in ERT-Treated Adults With MPS II

NCT05238324
View directory record Official record
Conditions
Mucopolysaccharidosis II
Interventions
Genetic HMI-203
Biological
Lead sponsor
Homology Medicines, Inc
Industry
Eligibility
18 Years to 45 Years · Male only
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2029
U.S. locations
5
States / cities
Oakland, California • New Haven, Connecticut • Hackensack, New Jersey + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 28, 2023 · Synced Oct 13, 2026, 1:12 PM EDT
Not listed Phase 1 Interventional

Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia

NCT00006127
View directory record Official record
Conditions
Fanconi's Anemia
Interventions
amifostine
Drug
Lead sponsor
Dana-Farber Cancer Institute
Other
Eligibility
2 Years and older
Enrollment
21 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 13, 2026, 1:12 PM EDT
Recruiting Phase 1 Interventional

Gene Editing For Sickle Cell Disease

NCT06506461
View directory record Official record
Conditions
Sickle Cell Disease
Interventions
Plerixafor, Busulfan, Gene-modified CD34+ cells, Motixafortide
Drug · Biological
Lead sponsor
St. Jude Children's Research Hospital
Other
Eligibility
18 Years to 24 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2032
U.S. locations
1
States / cities
Memphis, Tennessee
Source: ClinicalTrials.gov public record
Updated May 5, 2026 · Synced Oct 13, 2026, 1:12 PM EDT
Recruiting Phase 2 Interventional

Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Crinecerfont in Participants With Classic Congenital Adrenal Hyperplasia (CAH) Who Are Less Than 4 Years Old

NCT07536269
View directory record Official record
Conditions
Congenital Adrenal Hyperplasia
Interventions
Crinecerfont
Drug
Lead sponsor
Neurocrine Switzerland GmbH
Industry
Eligibility
3 Months to 47 Months
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
11
States / cities
San Francisco, California • Aurora, Colorado • Hartford, Connecticut + 8 more
Source: ClinicalTrials.gov public record
Updated Sep 16, 2026 · Synced Oct 13, 2026, 1:12 PM EDT
Completed Phase 1 Interventional

A First-in-Human Study of RPT193 in Healthy Volunteers and Patients With Atopic Dermatitis

NCT04271514
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
RPT193, Placebo
Drug
Lead sponsor
RAPT Therapeutics, Inc., a member of the GSK plc group of companies
Industry
Eligibility
18 Years to 65 Years
Enrollment
103 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2021
U.S. locations
13
States / cities
Anniston, Alabama • Scottsdale, Arizona • San Diego, California + 10 more
Source: ClinicalTrials.gov public record
Updated Sep 30, 2021 · Synced Oct 13, 2026, 1:12 PM EDT
Completed No phase listed Observational

Genetic Factors in Atherosclerosis

NCT00359307
View directory record Official record
Conditions
Atherosclerosis
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
Not listed
Enrollment
1,888 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2013
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 17, 2019 · Synced Oct 13, 2026, 1:12 PM EDT
Enrolling by invitation No phase listed Observational

Developing Biomarkers of Plexiform Tumor Burden in Patients With Neurofibromatosis-Type 1

NCT05238909
View directory record Official record
Conditions
Neurofibromatosis 1, NF1, Neurofibromatosis Type 1
Interventions
Not listed
Lead sponsor
Ann & Robert H Lurie Children's Hospital of Chicago
Other
Eligibility
Not listed
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Sep 9, 2026 · Synced Oct 13, 2026, 1:12 PM EDT
Terminated Not applicable Interventional Results available

Bioabsorbable Staple Line Reinforcement in Colorectal,Coloanal and Ileoanal Anastomoses

NCT00663819
View directory record Official record
Conditions
Rectal Cancer, Ulcerative Colitis, Familial Adenomatous Polyposis, Diverticulitis
Interventions
GORE SEAMGUARD® Bioabsorbable Staple Line Reinforcement, Staple line without reinforcement
Device · Procedure
Lead sponsor
W.L.Gore & Associates
Industry
Eligibility
18 Years and older
Enrollment
258 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2012
U.S. locations
16
States / cities
Mobile, Alabama • Los Angeles, California • Weston, Florida + 12 more
Source: ClinicalTrials.gov public record
Updated Apr 17, 2018 · Synced Oct 13, 2026, 1:12 PM EDT
Completed Phase 2 Interventional Results available

Dose-Escalation Safety Study of HPN-100 to Treat Urea Cycle Disorders

NCT00551200
View directory record Official record
Conditions
Urea Cycle Disorders
Interventions
HPN-100, BUPHENYL®
Drug
Lead sponsor
Amgen
Industry
Eligibility
18 Years and older
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2008
U.S. locations
2
States / cities
Minneapolis, Minnesota • Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jul 10, 2024 · Synced Oct 13, 2026, 1:12 PM EDT
Active, not recruiting No phase listed Observational

Acute Porphyria Biomarkers for Disease Activity

NCT02935400
View directory record Official record
Conditions
Acute Intermittent Porphyria, Hereditary Coproporphyria, Variegate Porphyria
Interventions
Hemin
Drug
Lead sponsor
The University of Texas Medical Branch, Galveston
Other
Eligibility
18 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2026
U.S. locations
1
States / cities
Galveston, Texas
Source: ClinicalTrials.gov public record
Updated May 12, 2026 · Synced Oct 13, 2026, 1:12 PM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial

NCT05361811
View directory record Official record
Conditions
Neurofibromatosis 1, Noonan Syndrome, Legius Syndrome, Cardiofaciocutaneous Syndrome, Costello Syndrome
Interventions
Waitlist, ACT Intervention
Behavioral
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
70 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 24, 2026 · Synced Oct 13, 2026, 1:12 PM EDT
Completed No phase listed Observational

REALITY LHON Registry

NCT03295071
View directory record Official record
Conditions
Leber Hereditary Optic Neuropathy
Interventions
Patient-reported outcomes (PROs)
Other
Lead sponsor
GenSight Biologics
Industry
Eligibility
Not listed
Enrollment
44 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
5
States / cities
Pasadena, California • Atlanta, Georgia • Boston, Massachusetts + 2 more
Source: ClinicalTrials.gov public record
Updated Mar 2, 2026 · Synced Oct 13, 2026, 1:12 PM EDT
Completed Phase 3 Interventional

A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease

NCT00074971
View directory record Official record
Conditions
Fabry Disease
Interventions
Fabrazyme (agalsidase beta)
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
16 Years and older
Enrollment
58 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2004
U.S. locations
14
States / cities
Los Angeles, California • San Francisco, California • Coral Springs, Florida + 11 more
Source: ClinicalTrials.gov public record
Updated Dec 4, 2013 · Synced Oct 13, 2026, 1:12 PM EDT