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Showing 1–24 of 40 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Genetic Structure Clear all
Completed No phase listed Observational Results available

Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network

NCT01586871
View directory record Official record
Conditions
Mucopolysaccharidoses
Interventions
Not listed
Lead sponsor
University of Minnesota
Other
Eligibility
3 Years to 18 Years
Enrollment
1,147 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2017
U.S. locations
2
States / cities
Orange, California • Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Feb 23, 2021 · Synced Sep 24, 2026, 4:55 PM EDT
Completed No phase listed Observational

Myotubular Myopathy Genetic Testing Study

NCT01817946
View directory record Official record
Conditions
Myotubular Myopathy
Interventions
Genetic Testing
Other
Lead sponsor
Cure CMD
Other
Eligibility
30 Days and older
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
1
States / cities
Torrance, California
Source: ClinicalTrials.gov public record
Updated Mar 6, 2018 · Synced Sep 24, 2026, 4:55 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Latent Structure of Multi-level Assessments and Predictors of Outcomes in Psychiatric Disorders

NCT02450240
View directory record Official record
Conditions
Depression, Anxiety, Eating Disorders, Drug Use Disorders
Interventions
standardized diagnostic assessment, self-report questionnaires, behavioral tasks, physiological measurements, structural and functional magnetic resonance imaging and EEG, biomarker and microbiome assessments, blood to derive induced pluripotent stem cells, genetic and epigenetic assessments
Behavioral · Other
Lead sponsor
Laureate Institute for Brain Research, Inc.
Other
Eligibility
18 Years to 55 Years
Enrollment
1,271 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2020
U.S. locations
1
States / cities
Tulsa, Oklahoma
Source: ClinicalTrials.gov public record
Updated Jul 6, 2020 · Synced Sep 24, 2026, 4:55 PM EDT
Completed Phase 2 Interventional Results available

Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa

NCT01530659
View directory record Official record
Conditions
Retinitis Pigmentosa, Usher Syndrome Type 2, Usher Syndrome Type 3
Interventions
NT-501, Sham
Drug · Procedure
Lead sponsor
Neurotech Pharmaceuticals
Industry
Eligibility
18 Years to 55 Years
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2019
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Feb 13, 2023 · Synced Sep 24, 2026, 4:55 PM EDT
Terminated No phase listed Observational Accepts healthy volunteers

Evaluating Genetic Risk Factors for Childhood-Onset Schizophrenia

NCT00001198
View directory record Official record
Conditions
Psychosis, Schizophrenia, Genetic Structure, Childhood Onset Psychotic Disorders, Schizoaffective Disorder
Interventions
Not listed
Lead sponsor
National Institute of Mental Health (NIMH)
NIH
Eligibility
6 Years and older
Enrollment
1,556 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1984 – 2017
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 11, 2017 · Synced Sep 24, 2026, 4:55 PM EDT
Recruiting No phase listed Observational

WiTNNess - TNNT1 Myopathy Natural History Study

NCT06374719
View directory record Official record
Conditions
TNNT1-associated Myopathy, Infantile-onset Nemaline Rod Myopathy, Myopathies, Nemaline, Myopathy, Myopathy, Rod, Myopathy; Hereditary, Amish Nemaline Myopathy, Nemaline Myopathy 5, NEM5, Genetic Muscle Disease, Recessive Hereditary Disorder (Autosomal), ANM
Interventions
Not listed
Lead sponsor
Clinic for Special Children
Other
Eligibility
Not listed
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2027
U.S. locations
1
States / cities
Gordonville, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 22, 2026 · Synced Sep 24, 2026, 4:55 PM EDT
Completed Phase 4 Interventional Accepts healthy volunteers Results available

Mineralocorticoid Receptor (MR) Antagonist (Eplerenone) vs Amlodipine and STRIATIN

NCT03683069
View directory record Official record
Conditions
Hypertension, Genetics Hypertension
Interventions
Eplerenone vs Amlodipine
Drug
Lead sponsor
Brigham and Women's Hospital
Other
Eligibility
18 Years to 70 Years
Enrollment
90 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2024
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 18, 2025 · Synced Sep 24, 2026, 4:55 PM EDT
Recruiting No phase listed Observational

Molecular and Genetic Studies of Congenital Myopathies

NCT00272883
View directory record Official record
Conditions
Central Core Disease, Centronuclear Myopathy, Congenital Fiber Type Disproportion, Multiminicore Disease, Myotubular Myopathy, Nemaline Myopathy, Rigid Spine Muscular Dystrophy, Undefined Congenital Myopathy
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
4,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2003 – 2050
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Mar 24, 2026 · Synced Sep 24, 2026, 4:55 PM EDT
Recruiting No phase listed Observational

Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study

NCT01581424
View directory record Official record
Conditions
Fabry Disease
Interventions
Not listed
Lead sponsor
University of Minnesota
Other
Eligibility
1 Year to 75 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2030
U.S. locations
2
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Aug 13, 2026 · Synced Sep 24, 2026, 4:55 PM EDT
Not yet recruiting No phase listed Observational

Nemaline Myopathy Clinical Research Network (NM-CTRN)

NCT06774703
View directory record Official record
Conditions
Nemaline Myopathy
Interventions
Not listed
Lead sponsor
Stanford University
Other
Eligibility
0 Years to 18 Years
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2029
U.S. locations
5
States / cities
Palo Alto, California • Bethesda, Maryland • Boston, Massachusetts + 2 more
Source: ClinicalTrials.gov public record
Updated Jan 13, 2025 · Synced Sep 24, 2026, 4:55 PM EDT
Enrolling by invitation No phase listed Observational Accepts healthy volunteers

Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2

NCT05854433
View directory record Official record
Conditions
Myotonic Dystrophy Type 2, Myotonic Dystrophy Type 1
Interventions
Non-interventional study
Other
Lead sponsor
Wake Forest University Health Sciences
Other
Eligibility
30 Years to 65 Years
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2027
U.S. locations
1
States / cities
Winston-Salem, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 13, 2026 · Synced Sep 24, 2026, 4:55 PM EDT
Completed No phase listed Observational Accepts healthy volunteers Results available

Genetics, Brain Structure and Thinking Skills in Autism

NCT01451983
View directory record Official record
Conditions
Autism Spectrum Disorders
Interventions
Not listed
Lead sponsor
The Cleveland Clinic
Other
Eligibility
2 Years to 50 Years
Enrollment
138 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2010 – 2014
U.S. locations
1
States / cities
Cleveland, Ohio
Source: ClinicalTrials.gov public record
Updated Jan 13, 2015 · Synced Sep 24, 2026, 4:55 PM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Retinal Imaging in Neurodegenerative Disease

NCT03233646
View directory record Official record
Conditions
Alzheimer's Disease, Mild Cognitive Impairment, Parkinson's Disease, Multiple Sclerosis, Huntington Disease, Lewy Body Dementia, Frontotemporal Dementia, Amyotrophic Lateral Sclerosis (ALS), APOE-4 Positive, Traumatic Brain Injury, Concussion, Post-Traumatic Stress Disorder, Down Syndrome, Neuro-Degenerative Disease, Normal Cognition
Interventions
Retinal and Choroidal Imaging
Device
Lead sponsor
Duke University
Other
Eligibility
18 Years and older
Enrollment
2,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2026
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Feb 3, 2026 · Synced Sep 24, 2026, 4:55 PM EDT
Recruiting Not applicable Interventional

Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease

NCT07478172
View directory record Official record
Conditions
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis, Myasthenia Gravis, Lambert-eaton Myasthenic Syndrome, Primary Lateral Sclerosis, Spinal Muscular Atrophy, Charcot Marie Tooth Disease (CMT), Fascioscapulohumeral Muscular Dystrophy, Inclusion Body Myositis, Mitochondrial Myopathy, Nemaline Myopathy, Centronuclear Myopathy, Postpolio Syndrome, Pompe Disease (Late-onset), Chronic Inflammatory Demyelinating Polyneuropathy, Hereditary Spastic Paraplegia, Postural Orthostatic Tachycardia Syndrome (POTS), Progressive Muscular Atrophy
Interventions
Whole-body Electrical Muscle Stimulation Exercise
Device
Lead sponsor
University of Missouri-Columbia
Other
Eligibility
18 Years and older
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2031
U.S. locations
1
States / cities
Columbia, Missouri
Source: ClinicalTrials.gov public record
Updated Mar 16, 2026 · Synced Sep 24, 2026, 4:55 PM EDT
Completed No phase listed Observational

Pharmacokinetics of Understudied Drugs Administered to Children Per Standard of Care

NCT01431326
View directory record Official record
Conditions
Adenovirus, Anesthesia, Anxiety, Anxiolysis, Autism, Autistic Disorder, Bacterial Meningitis, Bacterial Septicemia, Benzodiazepine, Bipolar Disorder, Bone and Joint Infections, Central Nervous System Infections, Convulsions, Cytomegalovirus Retinitis, Early-onset Schizophrenia Spectrum Disorders, Epilepsy, General Anesthesia, Gynecologic Infections, Herpes Simplex Virus, Infantile Hemangioma, Infection, Inflammation, Inflammatory Conditions, Intra-abdominal Infections, Lower Respiratory Tract Infections, Migraines, Pain, Pneumonia, Schizophrenia, Sedation, Seizures, Skeletal Muscle Spasms, Skin and Skin-structure Infections, Treatment-resistant Schizophrenia, Urinary Tract Infections, Withdrawal, Sepsis, Gram-negative Infection, Bradycardia, Cardiac Arrest, Cardiac Arrhythmia, Staphylococcal Infections, Nosocomial Pneumonia, Neuromuscular Blockade, Methicillin Resistant Staphylococcus Aureus, Endocarditis, Neutropenia, Headache, Fibrinolytic Bleeding, Pulmonary Arterial Hypertension, CMV Retinitis, Hypertension, Chronic Kidney Diseases, Hyperaldosteronism, Hypokalemia, Heart Failure, Hemophilia, Heavy Menstrual Bleeding, Insomnia
Interventions
The POPS study is collecting PK data on children prescribed the following drugs of interest per standard of care:
Drug
Lead sponsor
Daniel Benjamin
Other
Eligibility
Up to 21 Years
Enrollment
3,520 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2019
U.S. locations
43
States / cities
Anchorage, Alaska • Little Rock, Arkansas • La Jolla, California + 37 more
Source: ClinicalTrials.gov public record
Updated Sep 5, 2023 · Synced Sep 24, 2026, 4:55 PM EDT
Completed No phase listed Observational

Cystic Fibrosis and Cognitive Function

NCT03820349
View directory record Official record
Conditions
Cystic Fibrosis
Interventions
Not listed
Lead sponsor
University of Minnesota
Other
Eligibility
18 Years and older
Enrollment
28 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2019
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jul 1, 2021 · Synced Sep 24, 2026, 4:55 PM EDT
Completed No phase listed Observational

Longitudinal Studies of Brain Structure and Function in MPS Disorders

NCT01870375
View directory record Official record
Conditions
Mucopolysaccharidosis Type I, Mucopolysaccharidosis Type II, Mucopolysaccharidosis Type VI, Mucopolysaccharidosis Type IV, Mucopolysaccharidosis Type VII
Interventions
Not listed
Lead sponsor
University of Minnesota
Other
Eligibility
6 Years and older
Enrollment
100 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2019
U.S. locations
3
States / cities
Oakland, California • Minneapolis, Minnesota • New York, New York
Source: ClinicalTrials.gov public record
Updated Sep 5, 2019 · Synced Sep 24, 2026, 4:55 PM EDT
Active, not recruiting No phase listed Observational

Longitudinal Assessment of Brain Structure and Function in Juvenile-onset Huntington's Disease

NCT05707663
View directory record Official record
Conditions
Juvenile Huntington Disease, Juvenile-Onset Huntington Disease
Interventions
Not listed
Lead sponsor
University of Iowa
Other
Eligibility
4 Years to 30 Years
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2026
U.S. locations
5
States / cities
Sacramento, California • Iowa City, Iowa • Philadelphia, Pennsylvania + 2 more
Source: ClinicalTrials.gov public record
Updated Apr 29, 2026 · Synced Sep 24, 2026, 4:55 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Genetic, Brain Structure, and Environmental Effects on ADHD

NCT01721720
View directory record Official record
Conditions
Attention Deficit Disorder With Hyperactivity
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
3 Years and older
Enrollment
1,091 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2024
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 15, 2024 · Synced Sep 24, 2026, 4:55 PM EDT
Completed No phase listed Observational Results available

Influence of Genetic Polymorphisms on Ventricular Structure and Function in Patients With Single Ventricle Anatomy

NCT00165984
View directory record Official record
Conditions
Congenital Heart Disease
Interventions
Not listed
Lead sponsor
Emory University
Other
Eligibility
Not listed
Enrollment
224 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2010
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated May 1, 2012 · Synced Sep 24, 2026, 4:55 PM EDT
Recruiting No phase listed Observational

A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition

NCT06581146
View directory record Official record
Conditions
X-Linked Myotubular Myopathy
Interventions
No Intervention
Other
Lead sponsor
Astellas Gene Therapies
Industry
Eligibility
Up to 17 Years · Male only
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2027
U.S. locations
7
States / cities
Santa Monica, California • Chicago, Illinois • Boston, Massachusetts + 4 more
Source: ClinicalTrials.gov public record
Updated Aug 11, 2026 · Synced Sep 24, 2026, 4:55 PM EDT
Completed Not applicable Interventional

Functional and Structural Imaging and Motor Control in Spinocerebellar Ataxia

NCT02488031
View directory record Official record
Conditions
Spinocerebellar Ataxia
Interventions
Error-reduction, International Cooperative Ataxia Rating Scale, Scale for the Assessment and Rating of Ataxia, Beck Depression Inventory, 2nd Ed, Stroop, Purdue Pegboard, Brief Test of Attention, 6-minute Walk, Hand Grip Dynamometer, Montreal Cognitive Assessment, Physical Performance Function, Biomechanical Assessments of Dysmetria, Neurophysiological assessment of brain activity, Biomechanical gait analysis
Behavioral
Lead sponsor
University of Florida
Other
Eligibility
21 Years to 85 Years
Enrollment
19 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated May 12, 2019 · Synced Sep 24, 2026, 4:55 PM EDT
Completed No phase listed Observational Accepts healthy volunteers Results available

Prenatal Genetic Diagnosis by Genomic Sequencing

NCT03936101
View directory record Official record
Conditions
Fetal Structural Anomalies
Interventions
Prenatal Genomic Sequencing
Diagnostic Test
Lead sponsor
Columbia University
Other
Eligibility
18 Years and older
Enrollment
1,097 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2024
U.S. locations
5
States / cities
New York, New York • Chapel Hill, North Carolina • Cincinnati, Ohio + 1 more
Source: ClinicalTrials.gov public record
Updated Oct 26, 2025 · Synced Sep 24, 2026, 4:55 PM EDT
Completed No phase listed Observational

Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)

NCT02057705
View directory record Official record
Conditions
Myotubular Myopathy
Interventions
Not listed
Lead sponsor
Valerion Therapeutics, LLC
Industry
Eligibility
Not listed
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2017
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jun 6, 2018 · Synced Sep 24, 2026, 4:55 PM EDT