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ClinicalTrials.gov public records Last synced Oct 15, 2026, 11:33 AM EDT

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Showing 457–480 of 9,409 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetic Disease Clear all
Completed No phase listed Observational Accepts healthy volunteers

Oxidative Capacity and Exercise Tolerance in Ambulatory SMA

NCT02895789
View directory record Official record
Conditions
Spinal Muscular Atrophy Type 3, Mitochondrial Myopathy
Interventions
Not listed
Lead sponsor
Columbia University
Other
Eligibility
8 Years to 55 Years
Enrollment
42 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2021
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Mar 8, 2022 · Synced Oct 15, 2026, 11:33 AM EDT
Completed Not applicable Interventional

Ohio Colorectal Cancer Prevention Initiative

NCT01850654
View directory record Official record
Conditions
Lynch Syndrome, Colorectal Cancer
Interventions
LS tumor screening, Genetic testing, Genetic Counseling, Biorepository, Questionnaire
Genetic · Behavioral · Other
Lead sponsor
Ohio State University Comprehensive Cancer Center
Other
Eligibility
18 Years and older
Enrollment
3,470 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2018
U.S. locations
49
States / cities
Akron, Ohio • Barberton, Ohio • Batavia, Ohio + 29 more
Source: ClinicalTrials.gov public record
Updated Jun 28, 2018 · Synced Oct 15, 2026, 11:33 AM EDT
Completed Phase 3 Interventional Results available

A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE)

NCT00891202
View directory record Official record
Conditions
Gaucher Disease, Type 1
Interventions
Eliglustat tartrate, Placebo
Drug
Lead sponsor
Genzyme, a Sanofi Company
Industry
Eligibility
16 Years and older
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2016
U.S. locations
6
States / cities
San Francisco, California • New Haven, Connecticut • Decatur, Georgia + 2 more
Source: ClinicalTrials.gov public record
Updated Mar 3, 2017 · Synced Oct 15, 2026, 11:33 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Bilateral Orthotopic Lung Transplant - Bone Marrow Transplant

NCT03330795
View directory record Official record
Conditions
Primary Immunodeficiency, PID
Interventions
CD3/CD19 neg allogeneic BMT
Biological
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
10 Years to 45 Years
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2024
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jul 22, 2025 · Synced Oct 15, 2026, 11:33 AM EDT
Completed Not applicable Interventional

Proprioception and Sensorimotor Control in Hereditary Sensory and Autonomic Neuropathy

NCT02876939
View directory record Official record
Conditions
Atunomic Neuropathy
Interventions
kinesiology tape around the hip, knee and ankle joints, No kinesiology tape around the hip, knee and ankle joints
Other
Lead sponsor
NYU Langone Health
Other
Eligibility
16 Years to 40 Years
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Sep 22, 2020 · Synced Oct 15, 2026, 11:33 AM EDT
Completed Phase 2 Interventional Results available

Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome

NCT01357239
View directory record Official record
Conditions
Fragile X Syndrome
Interventions
AFQ056, Placebo
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
12 Years to 17 Years
Enrollment
139 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2014
U.S. locations
8
States / cities
Sacramento, California • Decatur, Georgia • Chicago, Illinois + 5 more
Source: ClinicalTrials.gov public record
Updated May 12, 2015 · Synced Oct 15, 2026, 11:33 AM EDT
Terminated Phase 3 Interventional Results available

Canakinumab to Treat Neonatal-Onset Multisystem Inflammatory Disease

NCT00770601
View directory record Official record
Conditions
NOMID, CINCA Syndrome
Interventions
Canakinumab
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
2 Years to 25 Years
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jun 10, 2021 · Synced Oct 15, 2026, 11:33 AM EDT
Completed Phase 3 Interventional Results available

A Study to Evaluate Upadacitinib in Adolescents and Adults With Moderate to Severe Atopic Dermatitis (Measure Up 2)

NCT03607422
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
Placebo for Upadacitinib, Upadacitinib
Drug
Lead sponsor
AbbVie
Industry
Eligibility
12 Years to 75 Years
Enrollment
912 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2025
U.S. locations
76
States / cities
Birmingham, Alabama • Phoenix, Arizona • Bryant, Arkansas + 63 more
Source: ClinicalTrials.gov public record
Updated Jun 2, 2026 · Synced Oct 15, 2026, 11:33 AM EDT
Completed Phase 2 Interventional Results available

A Study Evaluating the Safety and Efficacy of VX-659 Combination Therapy in Subjects With Cystic Fibrosis

NCT03224351
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
VX-659, TEZ/IVA, IVA, Placebo (matched to VX-659/TEZ/IVA), TEZ, VX-561, Placebo (matched to VX-659/TEZ/VX-561)
Drug
Lead sponsor
Vertex Pharmaceuticals Incorporated
Industry
Eligibility
18 Years and older
Enrollment
124 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2018
U.S. locations
25
States / cities
New Haven, Connecticut • Miami, Florida • Morton Grove, Illinois + 22 more
Source: ClinicalTrials.gov public record
Updated Apr 22, 2021 · Synced Oct 15, 2026, 11:33 AM EDT
Completed No phase listed Observational Results available

Response to Diaphragmatic Pacing in Subjects With Pompe Disease

NCT02354651
View directory record Official record
Conditions
Pompe Disease
Interventions
Diaphragm conditioning via phrenic nerve stimulation
Other
Lead sponsor
University of Florida
Other
Eligibility
2 Years to 65 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2023
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated Aug 1, 2023 · Synced Oct 15, 2026, 11:33 AM EDT
Recruiting No phase listed Observational

Natural History Study of Participants With Sanfilippo Syndrome Type IIIC

NCT05825131
View directory record Official record
Conditions
Sanfilippo Syndrome Type C
Interventions
Not listed
Lead sponsor
Phoenix Nest
Industry
Eligibility
12 Months and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
1
States / cities
Dallas, Texas
Source: ClinicalTrials.gov public record
Updated May 12, 2026 · Synced Oct 15, 2026, 11:33 AM EDT
Completed No phase listed Observational Results available

Screening for Cardiac Amyloidosis With Nuclear Imaging for Minority Populations

NCT03812172
View directory record Official record
Conditions
Amyloid Cardiomyopathy, Transthyretin-Related
Interventions
99mTc-PYP or 99m Tc-HDP
Drug
Lead sponsor
Mathew S. Maurer, MD
Other
Eligibility
60 Years and older
Enrollment
646 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2024
U.S. locations
4
States / cities
New Haven, Connecticut • Boston, Massachusetts • New York, New York
Source: ClinicalTrials.gov public record
Updated Nov 19, 2025 · Synced Oct 15, 2026, 11:33 AM EDT
Completed Phase 4 Interventional Results available

Study of Pegloticase (KRYSTEXXA®) Plus Methotrexate in Patients With Uncontrolled Gout

NCT03635957
View directory record Official record
Conditions
Gout
Interventions
Pegloticase, Methotrexate (MTX), Standard Gout Flare Prophylaxis, Infusion Reaction (IR) Prophylaxis, Folic Acid
Biological · Drug · Dietary Supplement
Lead sponsor
Amgen
Industry
Eligibility
18 Years to 65 Years
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
6
States / cities
Anchorage, Alaska • Glendale, Arizona • Mesa, Arizona + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 26, 2024 · Synced Oct 15, 2026, 11:33 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Study to Evaluate the Safety & Tolerability of MRT5005 Administered by Nebulization in Adults With Cystic Fibrosis

NCT03375047
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
MRT5005, Normal saline
Drug
Lead sponsor
Sanofi
Industry
Eligibility
18 Years and older
Enrollment
42 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2022
U.S. locations
16
States / cities
Birmingham, Alabama • Denver, Colorado • Gainesville, Florida + 13 more
Source: ClinicalTrials.gov public record
Updated Feb 9, 2026 · Synced Oct 15, 2026, 11:33 AM EDT
Completed Not applicable Interventional

Comparison of Airway Clearance Efficacy of Two High Frequency Chest Wall Oscillation (HFCWO) Devices in Cystic Fibrosis

NCT00308958
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
High frequency chest wall oscillator
Device
Lead sponsor
University of Minnesota
Other
Eligibility
19 Years and older
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated May 30, 2013 · Synced Oct 15, 2026, 11:33 AM EDT
Completed Phase 1Phase 2 Interventional

ADX-629 Therapy for Sjogren-Larsson Syndrome

NCT05443685
View directory record Official record
Conditions
Sjogren-Larsson Syndrome
Interventions
ADX-629
Drug
Lead sponsor
University of Nebraska
Other
Eligibility
5 Years to 50 Years
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
1
States / cities
Omaha, Nebraska
Source: ClinicalTrials.gov public record
Updated May 5, 2026 · Synced Oct 15, 2026, 11:33 AM EDT
Completed Not applicable Interventional

Time Restricted Feeding in Autosomal Dominant Polycystic Kidney Disease

NCT04534985
View directory record Official record
Conditions
Polycystic Kidney, Autosomal Dominant
Interventions
Dietary
Behavioral
Lead sponsor
University of Colorado, Denver
Other
Eligibility
18 Years to 65 Years
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Apr 10, 2023 · Synced Oct 15, 2026, 11:33 AM EDT
Completed Not applicable Interventional

The Impact of Exercise on Stress, Fatigue, and Quality of Life in Individuals With Primary Immunodeficiency Disease

NCT03211689
View directory record Official record
Conditions
Primary Immune Deficiency Disorder, Common Variable Immunodeficiency, Specific Antibody Deficiency, Hypergammaglobulinemia
Interventions
Exercise Program
Other
Lead sponsor
Stockton University
Other
Eligibility
18 Years and older
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017
U.S. locations
1
States / cities
Galloway, New Jersey
Source: ClinicalTrials.gov public record
Updated Sep 6, 2018 · Synced Oct 15, 2026, 11:33 AM EDT
Completed Phase 1 Interventional

Transformation of Plexiform Neurofibromas to Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis Type 1

NCT02211768
View directory record Official record
Conditions
Neurofibromatosis, MPNST
Interventions
MRI, FDG-PET/CT scans, [18F]-FLT-PET/CT scans
Procedure · Drug
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
10 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2019
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 8, 2026 · Synced Oct 15, 2026, 11:33 AM EDT
Completed Phase 2 Interventional Accepts healthy volunteers Results available

Down Syndrome Memantine Follow-up Study

NCT02304302
View directory record Official record
Conditions
Down Syndrome, Intellectual Disability
Interventions
Memantine, Placebo
Drug
Lead sponsor
University Hospitals Cleveland Medical Center
Other
Eligibility
15 Years to 32 Years
Enrollment
160 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2020
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Jun 27, 2023 · Synced Oct 15, 2026, 11:33 AM EDT
Suspended No phase listed Observational Accepts healthy volunteers

Genomic Resources for Enhancing Available Therapies (GREAT1.0) Study

NCT04306939
View directory record Official record
Conditions
Chronic Pancreatitis, Inflammatory Bowel Diseases, Hepatitis, NASH - Nonalcoholic Steatohepatitis, Acute Pancreatitis, Rheumatoid Arthritis, Diabetes Mellitus, Dyslipidemias, Multiple Sclerosis, Irritable Bowel Syndrome, Chronic Pain, Chronic Disease, Chronic Kidney Diseases, Crohn Disease, Celiac Disease, Biliary Cirrhosis, Bile Acid Synthesis Defect, Gastritis, Cholecystitis, Cholelithiases, IPMN, Cyst Pancreas, Cystic Fibrosis, Pancreatic Exocrine Insufficiency, Diarrhea Chronic, Constipation - Functional, Constipation Chronic Idiopathic
Interventions
venipuncture, Questionnaires, Additional Sample Collections
Other · Behavioral
Lead sponsor
University of Pittsburgh
Other
Eligibility
12 Years and older
Enrollment
120,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2026
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 7, 2026 · Synced Oct 15, 2026, 11:33 AM EDT
Completed Not applicable Interventional

Pilot Evaluation of the Cynosure Potenza™ System for Treatment of Cosmetic Dermatologic Skin Conditions

NCT05847530
View directory record Official record
Conditions
Wrinkles, Scars, Stretch Marks, Pigmentation, Skin Laxity
Interventions
Potenza, Icon
Device
Lead sponsor
Cynosure, Inc.
Industry
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2025
U.S. locations
1
States / cities
San Diego, California
Source: ClinicalTrials.gov public record
Updated Aug 28, 2025 · Synced Oct 15, 2026, 11:33 AM EDT
Recruiting Not applicable Interventional

Streamlined Treatment of Pulmonary Exacerbations in Pediatrics

NCT06654752
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Immediate Oral Antibiotics, Tailored Treatment: Oral Antibiotics only if Additional Treatment needed
Other
Lead sponsor
University of Washington, the Collaborative Health Studies Coordinating Center
Other
Eligibility
3 Years to 18 Years
Enrollment
430 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2029
U.S. locations
31
States / cities
Birmingham, Alabama • Tucson, Arizona • Los Angeles, California + 27 more
Source: ClinicalTrials.gov public record
Updated Aug 3, 2026 · Synced Oct 15, 2026, 11:33 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Instrumented Data Exchange for Ataxia Study

NCT04268147
View directory record Official record
Conditions
Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 6, Friedreich Ataxia
Interventions
Not listed
Lead sponsor
University of Chicago
Other
Eligibility
12 Years to 75 Years
Enrollment
128 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2024
U.S. locations
5
States / cities
Los Angeles, California • Chicago, Illinois • Baltimore, Maryland + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 5, 2024 · Synced Oct 15, 2026, 11:33 AM EDT