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ClinicalTrials.gov public records Last synced Sep 5, 2026, 9:51 PM EDT

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Showing 1–17 of 17 matching trials from the live ClinicalTrials.gov search.
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Filters: Intervention: Carrier status testing Clear all
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of DMD and BMD

NCT02972580
View directory record Official record
Conditions
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Interventions
Genetic characterization
Genetic
Lead sponsor
Nationwide Children's Hospital
Other
Eligibility
18 Years and older · Female only
Enrollment
250 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2030
U.S. locations
1
States / cities
Columbus, Ohio
Source: ClinicalTrials.gov public record
Updated Aug 26, 2024 · Synced Sep 5, 2026, 9:51 PM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Evaluation of HemoTypeSC as a Novel Rapid Test for Point-of-Care Screening for Sickle-Cell Disease, Hemoglobin C Disease, and Carrier Status in Low-Resource Settings

NCT03619798
View directory record Official record
Conditions
Diagnoses Disease
Interventions
HemoTypeSC
Device
Lead sponsor
Silver Lake Research Corporation
Industry
Eligibility
Not listed
Enrollment
600 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018
U.S. locations
1
States / cities
Azusa, California
Source: ClinicalTrials.gov public record
Updated Aug 7, 2018 · Synced Sep 5, 2026, 9:51 PM EDT
Not listed Phase 2 Interventional

Microbiota Transfer Therapy for Children and Adults With Both Pitt Hopkins Syndrome and Gastrointestinal Disorders

NCT06321796
View directory record Official record
Conditions
Pitt Hopkins Syndrome
Interventions
MTP-101P, Vancomycin, Magnesium Citrate, Antacid, Placebo MTP-101P, Placebo Vancomycin
Combination Product
Lead sponsor
Gut-Brain-Axis Therapeutics Inc.
Other
Eligibility
5 Years to 55 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2025
U.S. locations
1
States / cities
Tempe, Arizona
Source: ClinicalTrials.gov public record
Updated Mar 19, 2024 · Synced Sep 5, 2026, 9:51 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers Results available

Clinical Implementation of Carrier Status Using Next Generation Sequencing

NCT01902901
View directory record Official record
Conditions
Genetic Disorders
Interventions
Whole Genome Sequencing, Carrier status testing
Genetic
Lead sponsor
Kaiser Permanente
Other
Eligibility
21 Years to 50 Years
Enrollment
384 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2018
U.S. locations
1
States / cities
Portland, Oregon
Source: ClinicalTrials.gov public record
Updated Apr 16, 2019 · Synced Sep 5, 2026, 9:51 PM EDT
Completed No phase listed Observational

Study of Glycogen Storage Disease Expression in Carriers

NCT02057731
View directory record Official record
Conditions
Glycogen Storage Disease
Interventions
Glycogen Storage Disease markers
Genetic
Lead sponsor
University of Florida
Other
Eligibility
18 Years to 100 Years
Enrollment
114 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
1
States / cities
Gainesville, Florida
Source: ClinicalTrials.gov public record
Updated Dec 1, 2016 · Synced Sep 5, 2026, 9:51 PM EDT
Active, not recruiting Phase 1Phase 2 Interventional

Ferritin and Iron Burden in SAH sIRB

NCT03754725
View directory record Official record
Conditions
SAH, Dementia
Interventions
Deferiprone pill, placebo, Montreal Cognitive Assessment
Drug · Behavioral
Lead sponsor
Duke University
Other
Eligibility
18 Years to 75 Years
Enrollment
66 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2026
U.S. locations
2
States / cities
Iowa City, Iowa • Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jul 19, 2026 · Synced Sep 5, 2026, 9:51 PM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Neurofilament Surveillance Project (NSP)

NCT04516499
View directory record Official record
Conditions
Frontotemporal Dementia, Frontotemporal Lobar Degeneration, FTD-GRN, FTD, FTLD
Interventions
Not listed
Lead sponsor
The Bluefield Project to Cure Frontotemporal Dementia
Other
Eligibility
18 Years to 85 Years
Enrollment
342 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2027
U.S. locations
8
States / cities
San Francisco, California • Jacksonville, Florida • Baltimore, Maryland + 5 more
Source: ClinicalTrials.gov public record
Updated Jun 17, 2026 · Synced Sep 5, 2026, 9:51 PM EDT
Completed No phase listed Observational

Additional KIF6 Risk Offers Better Adherence to Statins

NCT01068834
View directory record Official record
Conditions
Cardiovascular Diseases, Dyslipidemia
Interventions
KIF6 genetic test
Genetic
Lead sponsor
Medco Health Solutions, Inc.
Industry
Eligibility
18 Years and older
Enrollment
1,282 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
1
States / cities
Franklin Lakes, New Jersey
Source: ClinicalTrials.gov public record
Updated Jan 31, 2012 · Synced Sep 5, 2026, 9:51 PM EDT
Completed No phase listed Observational

Influences on Female Adolescents' Decisions Regarding Testing for Carrier Status of XSCID

NCT00006335
View directory record Official record
Conditions
Severe Combined Immunodeficiency
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
13 Years to 17 Years · Female only
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Sep 5, 2026, 9:51 PM EDT
Not listed Not applicable Interventional Accepts healthy volunteers

Prenatal Computer-Aided Genetics Education Module

NCT03449225
View directory record Official record
Conditions
Autosomal Recessive Disorder, Aneuploidy
Interventions
Computer-Aided Genetic Education Module
Other
Lead sponsor
Wayne State University
Other
Eligibility
18 Years and older · Female only
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2019
U.S. locations
1
States / cities
Detroit, Michigan
Source: ClinicalTrials.gov public record
Updated May 1, 2019 · Synced Sep 5, 2026, 9:51 PM EDT
Recruiting No phase listed Observational

EXpanding Prenatal Cell Free DNA Screening Across moNogenic Disorders (EXPAND)

NCT06808880
View directory record Official record
Conditions
Single Gene NIPT
Interventions
Single-gene Noninvasive Prenatal Testing (sgNIPT)
Device
Lead sponsor
Natera, Inc.
Industry
Eligibility
18 Years and older
Enrollment
4,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
18
States / cities
Glendale, Arizona • Los Angeles, California • San Carlos, California + 12 more
Source: ClinicalTrials.gov public record
Updated May 3, 2026 · Synced Sep 5, 2026, 9:51 PM EDT
Completed Not applicable Interventional

The VetSeq Study: a Pilot Study of Genome Sequencing in Veteran Care

NCT03380819
View directory record Official record
Conditions
Rare Diseases, Genetic Disease
Interventions
Genome sequencing
Diagnostic Test
Lead sponsor
VA Boston Healthcare System
Federal
Eligibility
Not listed
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 25, 2023 · Synced Sep 5, 2026, 9:51 PM EDT
Active, not recruiting Phase 2 Interventional

Microbiota Transplant Therapy for Children With Both Autism Spectrum Disorder and Gastrointestinal Disorders

NCT06503978
View directory record Official record
Conditions
Autism Spectrum Disorder, Gastro-Intestinal Disorder, Constipation, Diarrhea
Interventions
MTP-101P, Vancomycin, Miralax, Antacid, Placebo MTP-101P, Placebo Vancomycin
Combination Product
Lead sponsor
Gut-Brain-Axis Therapeutics Inc.
Other
Eligibility
4 Years to 18 Years
Enrollment
60 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
1
States / cities
Tempe, Arizona
Source: ClinicalTrials.gov public record
Updated Sep 24, 2024 · Synced Sep 5, 2026, 9:51 PM EDT
Active, not recruiting No phase listed Observational Accepts healthy volunteers

ANXA5 M2 Haplotyping in IVF Patients and Embryos

NCT04544462
View directory record Official record
Conditions
Infertility, Miscarriage, Recurrent, Pregnancy Complications
Interventions
M2 Test
Other
Lead sponsor
Genomic Prediction Inc.
Industry
Eligibility
18 Years and older
Enrollment
500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2020 – 2026
U.S. locations
1
States / cities
North Brunswick, New Jersey
Source: ClinicalTrials.gov public record
Updated Aug 25, 2025 · Synced Sep 5, 2026, 9:51 PM EDT
Completed No phase listed Observational Results available

Parkinson Disease and DBS: Cognitive Effects in GBA Mutation Carriers

NCT03234478
View directory record Official record
Conditions
Parkinson, Parkinson Disease, Genetic Predisposition, GBA Gene Mutation, Cognitive Decline
Interventions
Not listed
Lead sponsor
Rutgers, The State University of New Jersey
Other
Eligibility
30 Years to 75 Years
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2024
U.S. locations
1
States / cities
New Brunswick, New Jersey
Source: ClinicalTrials.gov public record
Updated Jul 28, 2026 · Synced Sep 5, 2026, 9:51 PM EDT
Recruiting No phase listed Observational

Subclinical Transthyretin Cardiac Amyloidosis in V122I TTR Carriers

NCT05489549
View directory record Official record
Conditions
Amyloidosis, Hereditary, Amyloidosis Cardiac, Amyloidosis, Familial, Transthyretin-Related (ATTR) Familial Amyloid Cardiomyopathy, Transthyretin Gene Mutation
Interventions
Not listed
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
30 Years to 80 Years
Enrollment
500 participants
Timeline
2022 – 2027
U.S. locations
3
States / cities
New York, New York • Cleveland, Ohio • Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Aug 30, 2026 · Synced Sep 5, 2026, 9:51 PM EDT
Active, not recruiting No phase listed Observational

Genotypic Influences on Network Progression in Parkinson's Disease

NCT04228172
View directory record Official record
Conditions
Parkinson's Disease
Interventions
DNA/GeneticTesting, FDG PET scan, MRI scan, Clinical and neuropsychological assessments
Genetic · Radiation · Other
Lead sponsor
Northwell Health
Other
Eligibility
40 Years to 75 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2026
U.S. locations
1
States / cities
Manhasset, New York
Source: ClinicalTrials.gov public record
Updated Apr 12, 2026 · Synced Sep 5, 2026, 9:51 PM EDT