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ClinicalTrials.gov public records Last synced Sep 28, 2026, 11:13 PM EDT

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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Genetic Skin Disease Clear all
Recruiting No phase listed Observational

Evaluating the Genetics and Immunology of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Other Tonsil Disorders

NCT05656365
View directory record Official record
Conditions
Periodic Fever, Aphthous Stomatitis, Pharyngitis, And Cervical Adenitis (Pfapa), Obstructive Sleep Apnea, Tonsillitis, Tonsil Disorder, Sleep Disordered Breathing
Interventions
Not listed
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
1 Month to 99 Years
Enrollment
1,500 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2038
U.S. locations
3
States / cities
Washington D.C., District of Columbia • Indianapolis, Indiana • Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Apr 7, 2026 · Synced Sep 28, 2026, 11:13 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A

NCT01293565
View directory record Official record
Conditions
Hypohidrotic Ectodermal Dysplasia
Interventions
Not listed
Lead sponsor
Edimer Pharmaceuticals
Industry
Eligibility
14 Years to 29 Years · Male only
Enrollment
27 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Jun 27, 2012 · Synced Sep 28, 2026, 11:13 PM EDT
Not yet recruiting Not applicable Interventional Accepts healthy volunteers

ALDH2 Genetic Testing in East Asian Community

NCT07392775
View directory record Official record
Conditions
Healthy Adult, Flushing
Interventions
Genetic Test Results Return, Alcohol Flushing Education
Behavioral
Lead sponsor
Northwestern University
Other
Eligibility
18 Years and older
Enrollment
100 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2026 – 2029
U.S. locations
1
States / cities
Chicago, Illinois
Source: ClinicalTrials.gov public record
Updated Aug 10, 2026 · Synced Sep 28, 2026, 11:13 PM EDT
Completed Phase 3 Interventional Results available

C1 Esterase Inhibitor in Hereditary Angioedema (HAE)(Extension Study)

NCT00292981
View directory record Official record
Conditions
Hereditary Angioedema
Interventions
C1 Esterase Inhibitor
Drug
Lead sponsor
CSL Behring
Industry
Eligibility
6 Years and older
Enrollment
57 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2010
U.S. locations
13
States / cities
Weston, Florida • Atlanta, Georgia • Idaho Falls, Idaho + 10 more
Source: ClinicalTrials.gov public record
Updated May 6, 2015 · Synced Sep 28, 2026, 11:13 PM EDT
Completed Not applicable Interventional Accepts healthy volunteers

Familial Partial Lipodystrophy Study

NCT02858830
View directory record Official record
Conditions
Lipodystrophy, Familial Partial
Interventions
High fat mixed meal
Other
Lead sponsor
Mayo Clinic
Other
Eligibility
18 Years and older
Enrollment
12 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2016 – 2017
U.S. locations
1
States / cities
Rochester, Minnesota
Source: ClinicalTrials.gov public record
Updated Nov 23, 2021 · Synced Sep 28, 2026, 11:13 PM EDT
Completed No phase listed Observational Results available

Observational Safety Study for KALBITOR (Ecallantide) in the Treatment of Acute Attacks of Hereditary Angioedema

NCT01059526
View directory record Official record
Conditions
Hereditary Angioedema (HAE)
Interventions
ecallantide
Drug
Lead sponsor
Shire
Industry
Eligibility
16 Years and older
Enrollment
81 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2014
U.S. locations
40
States / cities
Little Rock, Arkansas • Bell Gardens, California • Granada Hills, California + 35 more
Source: ClinicalTrials.gov public record
Updated Jun 7, 2021 · Synced Sep 28, 2026, 11:13 PM EDT
Terminated No phase listed Observational

A Follow-up Study in Patients With Inherited Metabolic Disorders (IMD) Who Underwent Hematopoietic Stem Cell Transplantation (HSCT) With MGTA-456

NCT04008849
View directory record Official record
Conditions
Inherited Metabolic Disorders (IMD)
Interventions
Safety and efficacy assessments
Other
Lead sponsor
Magenta Therapeutics, Inc.
Industry
Eligibility
Up to 16 Years
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2020
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Mar 14, 2021 · Synced Sep 28, 2026, 11:13 PM EDT
Completed Phase 1 Interventional

Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells

NCT00692926
View directory record Official record
Conditions
MDS, Anemia, Aplastic, Inborn Errors of Metabolism, Congenital Marrow Failure, Congenital Immunodeficiency Syndrome
Interventions
ALDHbr Umbilical Cord Blood Cells
Biological
Lead sponsor
Joanne Kurtzberg, MD
Other
Eligibility
Up to 55 Years
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2012
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Jun 28, 2017 · Synced Sep 28, 2026, 11:13 PM 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 4, 2026 · Synced Sep 28, 2026, 11:13 PM EDT
Completed Phase 3 Interventional Results available

CSL312 (Garadacimab) in the Prevention of Hereditary Angioedema Attacks

NCT04656418
View directory record Official record
Conditions
Hereditary Angioedema
Interventions
CSL312, Placebo
Biological · Drug
Lead sponsor
CSL Behring
Industry
Eligibility
12 Years and older
Enrollment
64 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2022
U.S. locations
8
States / cities
Birmingham, Alabama • Scottsdale, Arizona • Santa Monica, California + 5 more
Source: ClinicalTrials.gov public record
Updated Jun 28, 2023 · Synced Sep 28, 2026, 11:13 PM EDT
Recruiting Phase 2 Interventional Accepts healthy volunteers

Effects of Treatments on Atopic Dermatitis

NCT01631617
View directory record Official record
Conditions
Eczema, Dermatitis, Skin Diseases, Genetic, Dermatitis, Atopic, Skin Diseases
Interventions
Trimethoprim/sulfamethoxazole (TMP/SMZ), Cephalexin, Doxycycline, Sodium hypochlorite, Placebo capsules, Placebo Sodium hypochlorite
Drug · Other
Lead sponsor
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
NIH
Eligibility
2 Years to 50 Years
Enrollment
130 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2012 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 27, 2026 · Synced Sep 28, 2026, 11:13 PM EDT
Completed Phase 3 Interventional Results available

Efficacy and Safety of AN2690 Topical Solution to Treat Onychomycosis of the Toenail

NCT01302119
View directory record Official record
Conditions
Onychomycosis of Toenails
Interventions
AN2690 Topical Solution, 5%, Solution Vehicle
Drug
Lead sponsor
Pfizer
Industry
Eligibility
18 Years and older
Enrollment
604 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2013
U.S. locations
26
States / cities
Phoenix, Arizona • Novato, California • Oceanside, California + 22 more
Source: ClinicalTrials.gov public record
Updated Apr 2, 2019 · Synced Sep 28, 2026, 11:13 PM EDT
Recruiting Phase 2 Interventional

Mirdametinib in Patients With Advanced NF1-mutant Melanoma

NCT07237100
View directory record Official record
Conditions
Advanced Unresectable Melanoma, Metastatic Melanoma
Interventions
Mirdametinib
Drug
Lead sponsor
Kevin Kim, MD
Other
Eligibility
18 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2030
U.S. locations
1
States / cities
San Francisco, California
Source: ClinicalTrials.gov public record
Updated Nov 18, 2025 · Synced Sep 28, 2026, 11:13 PM EDT
Completed Phase 2 Interventional Results available

Apremilast 30 mg Twice Daily (BID) Combined With Dupilumab

NCT04306965
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
Apremilast
Drug
Lead sponsor
Tufts Medical Center
Other
Eligibility
18 Years and older
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Apr 18, 2024 · Synced Sep 28, 2026, 11:13 PM EDT
Completed Early Phase 1 Interventional Accepts healthy volunteers

Atopic Dermatitis Research Network (ADRN) Influenza Vaccine Pilot

NCT01518478
View directory record Official record
Conditions
Atopic Dermatitis
Interventions
Fluzone® Intradermal (Sanofi Pasteur Inc.)
Drug
Lead sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
NIH
Eligibility
18 Years to 64 Years
Enrollment
40 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2011 – 2012
U.S. locations
1
States / cities
Denver, Colorado
Source: ClinicalTrials.gov public record
Updated Feb 28, 2017 · Synced Sep 28, 2026, 11:13 PM EDT
Active, not recruiting Not applicable Interventional

Feasibility Study: IGNITE-TX (Identifying Individuals for Genetic Testing & Treatment) Intervention

NCT05677048
View directory record Official record
Conditions
Gynecologic Cancer, Ovary Cancer, Pancreatic Cancer, Breast Cancer, Lynch Syndrome, Hereditary Breast and Ovarian Cancer Syndrome, Colon Cancer, Endometrial Cancer, Uterus Cancer
Interventions
Free genetic testing and counseling group, IGNITE-TX Group, IGNITE-TX and free genetic testing and counseling group
Behavioral
Lead sponsor
M.D. Anderson Cancer Center
Other
Eligibility
18 Years and older
Enrollment
205 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Sep 15, 2026 · Synced Sep 28, 2026, 11:13 PM EDT
Completed Phase 2 Interventional Results available

Effect of Oral Cimetidine in the Protoporphyrias

NCT05020184
View directory record Official record
Conditions
Erythropoietic Protoporphyria, X-linked Protoporphyria
Interventions
Cimetidine, Placebo
Drug
Lead sponsor
Amy K. Dickey, M.D.
Other
Eligibility
15 Years and older
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
3
States / cities
Boston, Massachusetts • Winston-Salem, North Carolina • Galveston, Texas
Source: ClinicalTrials.gov public record
Updated Sep 3, 2026 · Synced Sep 28, 2026, 11:13 PM EDT
Completed No phase listed Observational

Natural History of the Collagen-Related Disorder Osteogenesis Imperfecta and Genotype Phenotype Correlation

NCT03575221
View directory record Official record
Conditions
Osteogenesis Imperfecta, Short Stature
Interventions
Not listed
Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Eligibility
1 Day to 120 Years
Enrollment
46 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2024
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Sep 27, 2026 · Synced Sep 28, 2026, 11:13 PM EDT
Completed No phase listed Observational

Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia

NCT02099552
View directory record Official record
Conditions
X-Linked Hypohidrotic Ectodermal Dysplasia
Interventions
Not listed
Lead sponsor
Edimer Pharmaceuticals
Industry
Eligibility
Up to 36 Months
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2016
U.S. locations
3
States / cities
San Francisco, California • Washington D.C., District of Columbia • St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated Sep 4, 2017 · Synced Sep 28, 2026, 11:13 PM EDT
Completed Phase 3 Interventional Results available

C1 Esterase Inhibitor (C1INH-nf) for the Treatment of Acute Hereditary Angioedema (HAE) Attacks

NCT00289211
View directory record Official record
Conditions
Hereditary Angioedema
Interventions
C1 esterase inhibitor [human] (C1INH-nf), Placebo (saline)
Biological · Drug
Lead sponsor
Shire
Industry
Eligibility
6 Years and older
Enrollment
83 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2007
U.S. locations
37
States / cities
Hoover, Alabama • Scottsdale, Arizona • Los Angeles, California + 34 more
Source: ClinicalTrials.gov public record
Updated Jun 10, 2021 · Synced Sep 28, 2026, 11:13 PM EDT
Active, not recruiting No phase listed Observational

Natural History Study of Cutaneous Neurofibromas in People With NF1

NCT05581511
View directory record Official record
Conditions
Neurofibromatosis Type 1, Neurofibromatosis 1, Neurofibromatosis (Nonmalignant), Cutaneous Neurofibroma
Interventions
Evaluation of the natural history of cutaneous neurofibromas
Other
Lead sponsor
Johns Hopkins University
Other
Eligibility
1 Year to 100 Years
Enrollment
500 participants
Timeline
2021 – 2029
U.S. locations
1
States / cities
Baltimore, Maryland
Source: ClinicalTrials.gov public record
Updated Oct 13, 2025 · Synced Sep 28, 2026, 11:13 PM EDT
Terminated Phase 2 Interventional Results available

Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism

NCT00668564
View directory record Official record
Conditions
Hurler's Syndrome, Maroteaux-Lamy Syndrome, Sly Syndrome, Alpha Mannosidosis, Fucosidosis, Aspartylglucosaminuria, Sphingolipidoses, Krabbe Disease, Wolman's Disease, Niemann-Pick Disease Type B, Niemann-Pick Disease, Type C
Interventions
Stem Cell Transplantation, Cyclophosphamide, Campath-1H, Busulfan
Procedure · Drug
Lead sponsor
Masonic Cancer Center, University of Minnesota
Other
Eligibility
Up to 21 Years
Enrollment
18 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2010
U.S. locations
1
States / cities
Minneapolis, Minnesota
Source: ClinicalTrials.gov public record
Updated Dec 27, 2017 · Synced Sep 28, 2026, 11:13 PM EDT
Recruiting No phase listed Observational

Identification of Acute Intermittent Porphyria Modifying Genes

NCT05502133
View directory record Official record
Conditions
Acute Intermittent Porphyria (AIP)
Interventions
Not listed
Lead sponsor
Icahn School of Medicine at Mount Sinai
Other
Eligibility
12 Years and older
Enrollment
150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2029
U.S. locations
1
States / cities
New York, New York
Source: ClinicalTrials.gov public record
Updated Sep 9, 2026 · Synced Sep 28, 2026, 11:13 PM EDT
Completed No phase listed Observational Accepts healthy volunteers

Salivary Proteins in Disease and Health

NCT00100204
View directory record Official record
Conditions
Diabetes Mellitus, Sarcoidosis, Dental Caries, Sjorgren's Syndrome, Cystinosis, Head and Neck Neoplasms
Interventions
Not listed
Lead sponsor
National Institute of Dental and Craniofacial Research (NIDCR)
NIH
Eligibility
Not listed
Enrollment
264 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2004 – 2011
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Sep 28, 2026, 11:13 PM EDT