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ClinicalTrials.gov public records Last synced Oct 21, 2026, 7:09 AM EDT

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Showing 1–24 of 1,954 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: Genetic Conditions Clear all
Completed No phase listed Observational

Blood Sample Donations to Study the Role of Genes in Pain

NCT00341367
View directory record Official record
Conditions
Pain
Interventions
Not listed
Lead sponsor
National Institute on Alcohol Abuse and Alcoholism (NIAAA)
NIH
Eligibility
Not listed
Enrollment
320 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2010
U.S. locations
1
States / cities
South Portland, Maine
Source: ClinicalTrials.gov public record
Updated Jul 2, 2017 · Synced Oct 21, 2026, 7:09 AM EDT
Not listed Not applicable Interventional

Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders

NCT00006056
View directory record Official record
Conditions
Chediak-Higashi Syndrome, Graft Versus Host Disease, X-Linked Lymphoproliferative Syndrome, Familial Erythrophagocytic Lymphohistiocytosis, Hemophagocytic Lymphohistiocytosis, Virus-Associated Hemophagocytic Syndrome
Interventions
anti-thymocyte globulin, busulfan, cyclophosphamide, cyclosporine, etoposide, filgrastim, methotrexate, allogeneic hematopoietic stem cell transplantation
Drug · Procedure
Lead sponsor
Fairview University Medical Center
Other
Eligibility
0 Years to 55 Years
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2000
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 21, 2026, 7:09 AM EDT
Completed No phase listed Observational

Natural History and Functional Status Study of Patients With Lafora Disease

NCT03876522
View directory record Official record
Conditions
Lafora Disease
Interventions
Not listed
Lead sponsor
Ionis Pharmaceuticals, Inc.
Industry
Eligibility
5 Years and older
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
2
States / cities
Los Angeles, California • Dallas, Texas
Source: ClinicalTrials.gov public record
Updated Sep 28, 2022 · Synced Oct 21, 2026, 7:09 AM EDT
Completed Not applicable Interventional

Voriconazole Compared With Itraconazole in Preventing Fungal Infections in Patients Undergoing Allogeneic Hematopoietic Stem Cell Transplantation

NCT00079222
View directory record Official record
Conditions
Cancer
Interventions
itraconazole, voriconazole
Drug
Lead sponsor
Jonsson Comprehensive Cancer Center
Other
Eligibility
12 Years to 120 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2003
U.S. locations
1
States / cities
Los Angeles, California
Source: ClinicalTrials.gov public record
Updated Aug 3, 2020 · Synced Oct 21, 2026, 7:09 AM EDT
Completed Phase 2 Interventional

Imaging and Genetic Biomarkers of Parkinson Disease (PD) Onset and Progression in High-risk Families

NCT00273351
View directory record Official record
Conditions
Parkinson Disease, Parkinsonian Syndrome
Interventions
[123I]B-CIT
Drug
Lead sponsor
Institute for Neurodegenerative Disorders
Other
Eligibility
21 Years and older
Enrollment
62 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2008
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated May 9, 2014 · Synced Oct 21, 2026, 7:09 AM EDT
Completed Phase 4 Interventional Accepts healthy volunteers Results available

GLASSIA Infusion Rate Study

NCT01651351
View directory record Official record
Conditions
Alpha1-antitrypsin Deficiency, Healthy Volunteers
Interventions
Alpha1-proteinase inhibitor, Placebo: Human albumin 2.5%
Biological
Lead sponsor
Baxalta now part of Shire
Industry
Eligibility
18 Years to 65 Years
Enrollment
30 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2013
U.S. locations
1
States / cities
Overland Park, Kansas
Source: ClinicalTrials.gov public record
Updated May 25, 2021 · Synced Oct 21, 2026, 7:09 AM EDT
Completed Phase 1 Interventional

The Effects of Alpha-1 Antitrypsin (AAT) on the Progression of Type 1 Diabetes

NCT01319331
View directory record Official record
Conditions
Diabetes, Type 1 Diabetes
Interventions
Alpha 1-Antitrypsin (AAT, Aralast NP)
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
6 Years to 45 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2016
U.S. locations
1
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Mar 24, 2017 · Synced Oct 21, 2026, 7:09 AM EDT
Not listed No phase listed Observational

MMRF Molecular Profiling Protocol

NCT02884102
View directory record Official record
Conditions
Multiple Myeloma, Plasma Malignancy
Interventions
genetic sequencing
Genetic
Lead sponsor
Multiple Myeloma Research Foundation
Other
Eligibility
18 Years and older
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2026
U.S. locations
19
States / cities
Scottsdale, Arizona • Duarte, California • San Francisco, California + 15 more
Source: ClinicalTrials.gov public record
Updated May 6, 2025 · Synced Oct 21, 2026, 7:09 AM EDT
Completed Phase 1 Interventional

Phase I Study of Retrovirally Mediated Transfer of the Human Glucocerebrosidase Gene Into Peripheral Blood Stem Cells for Autologous Transplantation in Patients With Type I Gaucher Disease

NCT00004294
View directory record Official record
Conditions
Gaucher's Disease
Interventions
human glucocerebrosidase gene into autologous peripheral blood stem cells
Genetic
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
18 Years to 65 Years
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Pittsburgh, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jun 24, 2005 · Synced Oct 21, 2026, 7:09 AM EDT
Completed Phase 2 Interventional

Therapies for Down Syndrome Regression Disorder

NCT05662228
View directory record Official record
Conditions
Down Syndrome, Regression
Interventions
Lorazepam, Intravenous immunoglobulin (IVIG), Tofacitinib
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
8 Years to 30 Years
Enrollment
66 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
2
States / cities
Los Angeles, California • Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Sep 3, 2026 · Synced Oct 21, 2026, 7:09 AM EDT
Active, not recruiting Not applicable Interventional Accepts healthy volunteers

Food Genetics Behavior Study

NCT05783765
View directory record Official record
Conditions
Obesity, Childhood
Interventions
Heightened Drive to Eat
Behavioral
Lead sponsor
University of Pennsylvania
Other
Eligibility
5 Years to 7 Years
Enrollment
317 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2027
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 14, 2026 · Synced Oct 21, 2026, 7:09 AM EDT
Completed Phase 3 Interventional Results available

Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM)

NCT00790400
View directory record Official record
Conditions
Tuberous Sclerosis Complex (TSC), Lymphangioleiomyomatosis (LAM)
Interventions
Everolimus (RAD001), Everolimus Placebo
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
118 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2015
U.S. locations
6
States / cities
Birmingham, Alabama • Phoenix, Arizona • Boston, Massachusetts + 3 more
Source: ClinicalTrials.gov public record
Updated Feb 17, 2017 · Synced Oct 21, 2026, 7:09 AM EDT
Completed Not applicable Interventional

Ketogenic Diet for Child Epilepsy and Seizure Control

NCT00004729
View directory record Official record
Conditions
Epilepsy, Seizures, Lennox-Gastaut Syndrome
Interventions
Ketogenic diet
Behavioral
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
1 Year to 10 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1997
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Dec 22, 2006 · Synced Oct 21, 2026, 7:09 AM EDT
Terminated Phase 1 Interventional Results available

Efficacy, Safety And Tolerability Of PF-06743649 In Gout Subjects.

NCT02187029
View directory record Official record
Conditions
Gout
Interventions
PF-06743649, Placebo
Drug · Other
Lead sponsor
Pfizer
Industry
Eligibility
18 Years to 60 Years
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014
U.S. locations
4
States / cities
Miami, Florida • South Miami, Florida • Overland Park, Kansas
Source: ClinicalTrials.gov public record
Updated Nov 11, 2016 · Synced Oct 21, 2026, 7:09 AM EDT
Completed No phase listed Observational

Platelet Function in Patients With Hemophilia A

NCT02093065
View directory record Official record
Conditions
Hemophilia A
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
2 Years to 18 Years · Male only
Enrollment
36 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2020
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Jul 14, 2020 · Synced Oct 21, 2026, 7:09 AM EDT
Enrolling by invitation Not applicable Interventional

Investigation of β-hydroxybutyrate Supplementation as Chemoprevention in Familial Adenomatous Polyposis

NCT06578637
View directory record Official record
Conditions
FAP, Familial Adenomatous Polyposis
Interventions
R-1,3-Butanediol (10G-A), R-1,3-Butanediol (20G-A), R-1,3-Butanediol (30G-A), R-1,3-Butanediol (30G-B)
Dietary Supplement
Lead sponsor
Abramson Cancer Center at Penn Medicine
Other
Eligibility
18 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Sep 16, 2026 · Synced Oct 21, 2026, 7:09 AM EDT
Completed Phase 2 Interventional Results available

Etanercept in Treating Young Patients With Idiopathic Pneumonia Syndrome After Undergoing a Donor Stem Cell Transplant

NCT00309907
View directory record Official record
Conditions
Accelerated Phase Chronic Myelogenous Leukemia, Blastic Phase Chronic Myelogenous Leukemia, Childhood Acute Lymphoblastic Leukemia in Remission, Childhood Acute Myeloid Leukemia in Remission, Childhood Chronic Myelogenous Leukemia, Childhood Myelodysplastic Syndromes, Chronic Phase Chronic Myelogenous Leukemia, de Novo Myelodysplastic Syndromes, Disseminated Neuroblastoma, Juvenile Myelomonocytic Leukemia, Previously Treated Childhood Rhabdomyosarcoma, Previously Treated Myelodysplastic Syndromes, Pulmonary Complications, Recurrent Childhood Acute Lymphoblastic Leukemia, Recurrent Childhood Acute Myeloid Leukemia, Recurrent Childhood Large Cell Lymphoma, Recurrent Childhood Lymphoblastic Lymphoma, Recurrent Childhood Rhabdomyosarcoma, Recurrent Childhood Small Noncleaved Cell Lymphoma, Recurrent Neuroblastoma, Recurrent Wilms Tumor and Other Childhood Kidney Tumors, Recurrent/Refractory Childhood Hodgkin Lymphoma, Relapsing Chronic Myelogenous Leukemia, Secondary Acute Myeloid Leukemia, Secondary Myelodysplastic Syndromes
Interventions
etanercept, methylprednisolone
Biological · Drug
Lead sponsor
Children's Oncology Group
Network
Eligibility
1 Year to 17 Years
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2006 – 2011
U.S. locations
26
States / cities
Birmingham, Alabama • Arcadia, California • Loma Linda, California + 22 more
Source: ClinicalTrials.gov public record
Updated Sep 29, 2017 · Synced Oct 21, 2026, 7:09 AM EDT
Completed No phase listed Observational

Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker

NCT00971334
View directory record Official record
Conditions
Pregnancy, Aneuploidy, Down Syndrome, Edwards Syndrome
Interventions
Not listed
Lead sponsor
Sequenom, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
2,502 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2011
U.S. locations
30
States / cities
Mobile, Alabama • La Mesa, California • San Diego, California + 21 more
Source: ClinicalTrials.gov public record
Updated Feb 17, 2012 · Synced Oct 21, 2026, 7:09 AM EDT
Active, not recruiting Not applicable Interventional Accepts healthy volunteers

AV-23-001 AVAVA MIRIA Pilot Study

NCT06557434
View directory record Official record
Conditions
Wrinkle, Acne Scars - Mixed Atrophic and Hypertrophic, Pigmented Lesions, Skin Laxity, Scars
Interventions
MIRIA
Device
Lead sponsor
AVAVA, Inc.
Industry
Eligibility
18 Years and older
Enrollment
200 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2023 – 2026
U.S. locations
2
States / cities
Dix Hills, New York • New York, New York
Source: ClinicalTrials.gov public record
Updated Mar 7, 2025 · Synced Oct 21, 2026, 7:09 AM EDT
Recruiting No phase listed Observational

Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study

NCT02841553
View directory record Official record
Conditions
Wolfram Syndrome, Diabetes Mellitus, Optic Nerve Atrophy, Deafness, Diabetes Insipidus, Ataxia
Interventions
Not listed
Lead sponsor
Washington University School of Medicine
Other
Eligibility
0 Years and older
Enrollment
5,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2027
U.S. locations
1
States / cities
St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Dec 23, 2025 · Synced Oct 21, 2026, 7:09 AM EDT
Terminated No phase listed Observational

An Exploratory Study of Genetic and Clinical Factors for Serious Skin Reactions Among Users of Eslicarbazepine Acetate

NCT02520557
View directory record Official record
Conditions
SCAR
Interventions
Blood or Saliva
Other
Lead sponsor
Sumitomo Pharma America, Inc.
Industry
Eligibility
Not listed
Enrollment
121 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2020
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Jan 22, 2021 · Synced Oct 21, 2026, 7:09 AM EDT
Enrolling by invitation Phase 3 Interventional

Long Term Safety of Alpha1-Proteinase Inhibitor in Subjects With Alpha1 Antitrypsin Deficiency

NCT02796937
View directory record Official record
Conditions
Pulmonary Emphysema in Alpha-1 Antitrypsin Deficiency
Interventions
Alpha-1 MP
Biological
Lead sponsor
Grifols Therapeutics LLC
Industry
Eligibility
20 Years to 72 Years
Enrollment
290 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2029
U.S. locations
6
States / cities
Phoenix, Arizona • Miami, Florida • Wilmington, North Carolina + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 23, 2026 · Synced Oct 21, 2026, 7:09 AM EDT
Completed No phase listed Observational

Susceptibility to Chronic Post-Traumatic Extremity Pain

NCT00672711
View directory record Official record
Conditions
Chronic Pain
Interventions
Not listed
Lead sponsor
Corewell Health East
Other
Eligibility
18 Years to 80 Years
Enrollment
250 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2012
U.S. locations
2
States / cities
Royal Oak, Michigan • Troy, Michigan
Source: ClinicalTrials.gov public record
Updated Sep 4, 2020 · Synced Oct 21, 2026, 7:09 AM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Extinction Learning in Youth With Tourette Syndrome

NCT03765463
View directory record Official record
Conditions
Tourette Syndrome in Children, Tourette Syndrome in Adolescence, Habit Reversal Training, Tic
Interventions
Habit Reversal Training
Behavioral
Lead sponsor
Johns Hopkins University
Other
Eligibility
8 Years to 17 Years
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2019 – 2023
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Aug 8, 2023 · Synced Oct 21, 2026, 7:09 AM EDT