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ClinicalTrials.gov public records Last synced Jul 22, 2026, 10:53 AM EDT

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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Filters: Condition: Craniofacial Defects Clear all
Completed Phase 2 Interventional Results available

Thymus Transplantation in DiGeorge Syndrome #668

NCT00576407
View directory record Official record
Conditions
DiGeorge Syndrome, Complete Typical DiGeorge Anomaly
Interventions
Cultured Thymus Tissue for Implantation (CTTI)
Biological
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Not listed
Enrollment
26 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1991 – 2017
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 24, 2022 · Synced Jul 22, 2026, 10:53 AM EDT
Active, not recruiting Phase 2 Interventional

Vosoritide for Selected Genetic Causes of Short Stature

NCT04219007
View directory record Official record
Conditions
Short Stature
Interventions
Vosoritide
Drug
Lead sponsor
Andrew Dauber
Other
Eligibility
3 Years to 10 Years
Enrollment
56 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2035
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Mar 17, 2026 · Synced Jul 22, 2026, 10:53 AM EDT
Completed Phase 2 Interventional Results available

Open-Label Study of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With 22q11.2 Deletion Syndrome (INSPIRE)

NCT05149898
View directory record Official record
Conditions
22Q11.2 Deletion Syndrome
Interventions
ZYN002
Drug
Lead sponsor
Harmony Biosciences Management, Inc.
Industry
Eligibility
4 Years to 17 Years
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
1
States / cities
Greenville, South Carolina
Source: ClinicalTrials.gov public record
Updated Mar 8, 2026 · Synced Jul 22, 2026, 10:53 AM EDT
Completed Phase 1 Interventional

A First-in-Human, Phase 1 Study of JAB-3312 in Adult Patients With Advanced Solid Tumors

NCT04045496
View directory record Official record
Conditions
Non-small Cell Lung Cancer, Colorectal Cancer, Pancreatic Ductal Carcinoma, Esophageal Squamous Cell Carcinoma, Head and Neck Squamous Cell Carcinoma, Breast Cancer, Other Solid Tumors
Interventions
JAB-3312
Drug
Lead sponsor
Jacobio Pharmaceuticals Co., Ltd.
Industry
Eligibility
18 Years and older
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
4
States / cities
Denver, Colorado • Nashville, Tennessee • Houston, Texas + 1 more
Source: ClinicalTrials.gov public record
Updated Dec 28, 2025 · Synced Jul 22, 2026, 10:53 AM EDT
Completed Phase 2 Interventional Results available

Thymus Transplantation Dose in DiGeorge #932

NCT00576836
View directory record Official record
Conditions
DiGeorge Anomaly, DiGeorge Syndrome, Complete DiGeorge Anomaly, Complete DiGeorge Syndrome
Interventions
Cultured Thymus Tissue Implantation (CTTI), Cultured Thymus Tissue Implantation with Parathyroid Transplantation
Biological · Other
Lead sponsor
Sumitomo Pharma Switzerland GmbH
Industry
Eligibility
Not listed
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2004 – 2019
U.S. locations
1
States / cities
Durham, North Carolina
Source: ClinicalTrials.gov public record
Updated Mar 24, 2022 · Synced Jul 22, 2026, 10:53 AM EDT
Active, not recruiting Phase 3 Interventional Results available

A Research Study Looking at How Safe Somapacitan is and How Well it Works in Children Who Need Help to Grow - REAL 9

NCT05723835
View directory record Official record
Conditions
SGA, Turner Syndrome, Noonan Syndrome, ISS
Interventions
Somapacitan
Drug
Lead sponsor
Novo Nordisk A/S
Industry
Eligibility
10 Years to 18 Years
Enrollment
47 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
6
States / cities
Birmingham, Alabama • Sacramento, California • Centennial, Colorado + 3 more
Source: ClinicalTrials.gov public record
Updated Jul 8, 2026 · Synced Jul 22, 2026, 10:53 AM EDT
Completed No phase listed Observational Accepts healthy volunteers

Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes

NCT02213484
View directory record Official record
Conditions
Marfan Syndrome, Loeys-Dietz Syndrome, Thoracic Aortic Aneurysm and Dissection Syndromes, Ehlers-Danlos Type IV Syndrome, Turner Syndrome
Interventions
Not listed
Lead sponsor
University of Colorado, Denver
Other
Eligibility
30 Days to 60 Years
Enrollment
20 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2014 – 2016
U.S. locations
2
States / cities
Aurora, Colorado
Source: ClinicalTrials.gov public record
Updated Mar 14, 2017 · Synced Jul 22, 2026, 10:53 AM EDT
Recruiting No phase listed Observational Accepts healthy volunteers

Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies

NCT04888936
View directory record Official record
Conditions
Costello Syndrome, Noonan Syndrome, Cardiofaciocutaneous Syndrome, Legius Syndrome, Capillary Arteriovenous Malformation Syndrome, RASopathy
Interventions
Not listed
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
1 Month to 99 Years
Enrollment
500 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2035
U.S. locations
2
States / cities
Bethesda, Maryland • Rockville, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 6, 2026 · Synced Jul 22, 2026, 10:53 AM EDT
Recruiting Not applicable Interventional Accepts healthy volunteers

Acceptance and Commitment Therapy for Caregivers of Children With a RASopathy: An Internal Pilot Feasibility Study and Follow-up Randomized Controlled Trial

NCT05361811
View directory record Official record
Conditions
Neurofibromatosis 1, Noonan Syndrome, Legius Syndrome, Cardiofaciocutaneous Syndrome, Costello Syndrome
Interventions
Waitlist, ACT Intervention
Behavioral
Lead sponsor
National Cancer Institute (NCI)
NIH
Eligibility
18 Years and older
Enrollment
70 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2024 – 2027
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Feb 18, 2026 · Synced Jul 22, 2026, 10:53 AM EDT
Completed Phase 1 Interventional

A Study of Anti-Cancer Therapies Targeting the MAPK Pathway in Patients With Advanced NSCLC

NCT04959981
View directory record Official record
Conditions
Advanced Non-squamous Non-small-cell Lung Cancer
Interventions
ERAS-007, ERAS-601, Osimertinib, Sotorasib
Drug
Lead sponsor
Erasca, Inc.
Industry
Eligibility
18 Years to 99 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
11
States / cities
Duarte, California • Orange, California • Santa Monica, California + 7 more
Source: ClinicalTrials.gov public record
Updated Jul 24, 2023 · Synced Jul 22, 2026, 10:53 AM EDT
Terminated No phase listed Observational

Prevalence and Clinical Spectrum of the 22q11 Deletion

NCT00267397
View directory record Official record
Conditions
Congenital Disorders
Interventions
Not listed
Lead sponsor
Children's Healthcare of Atlanta
Other
Eligibility
Up to 6 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
1967 – 2006
U.S. locations
1
States / cities
Atlanta, Georgia
Source: ClinicalTrials.gov public record
Updated May 3, 2007 · Synced Jul 22, 2026, 10:53 AM EDT
Completed No phase listed Observational

Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes

NCT00004351
View directory record Official record
Conditions
Williams Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Shprintzen Syndrome, Smith-Magenis Syndrome, DiGeorge Syndrome, Chromosome Abnormalities
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
0 Years and older
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Houston, Texas
Source: ClinicalTrials.gov public record
Updated Jun 23, 2005 · Synced Jul 22, 2026, 10:53 AM EDT
Active, not recruiting No phase listed Observational

Pathogenetic Basis of Aortopathy and Aortic Valve Disease

NCT03440697
View directory record Official record
Conditions
Aortopathies, Thoracic Aortic Aneurysm, Aortic Valve Disease, Thoracic Aortic Disease, Thoracic Aortic Dissection, Thoracic Aortic Rupture, Ascending Aortic Disease, Descending Aortic Disease, Ascending Aortic Aneurysm, Descending Aortic Aneurysm, Marfan Syndrome, Loeys-Dietz Syndrome, Vascular Ehlers-Danlos Syndrome, Shprintzen-Goldberg Syndrome, Turner Syndrome, PHACE Syndrome, Autosomal Recessive Cutis Laxa, Congenital Contractural Arachnodactyly, Arterial Tortuosity Syndrome, Bicuspid Aortic Valve-Associated Aortopathy, Bicuspid Aortic Valve, Familial Thoracic Aortic Aneurysm and Aortic Dissection
Interventions
Not listed
Lead sponsor
Yale University
Other
Eligibility
Not listed
Enrollment
3,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2030
U.S. locations
2
States / cities
Atlanta, Georgia • Indianapolis, Indiana
Source: ClinicalTrials.gov public record
Updated Feb 12, 2026 · Synced Jul 22, 2026, 10:53 AM EDT
Completed Phase 1 Interventional

RLY-1971 in Subjects With Advanced or Metastatic Solid Tumors

NCT04252339
View directory record Official record
Conditions
Solid Tumor, Unspecified, Adult
Interventions
RLY-1971
Drug
Lead sponsor
Hoffmann-La Roche
Industry
Eligibility
18 Years and older
Enrollment
56 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
6
States / cities
Lake Mary, Florida • Sarasota, Florida • Boston, Massachusetts + 1 more
Source: ClinicalTrials.gov public record
Updated Jan 30, 2023 · Synced Jul 22, 2026, 10:53 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Genetics and Psychopathology in the 22q11 Deletion Syndrome

NCT00161109
View directory record Official record
Conditions
Chromosome 22q11.2 Deletion Syndrome
Interventions
Not listed
Lead sponsor
UMC Utrecht
Other
Eligibility
8 Years to 20 Years
Enrollment
175 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2002 – 2012
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 12, 2006 · Synced Jul 22, 2026, 10:53 AM EDT
Withdrawn Phase 2 Interventional

Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy

NCT01556568
View directory record Official record
Conditions
Cardiomegaly
Interventions
MEK162
Drug
Lead sponsor
Array Biopharma, now a wholly owned subsidiary of Pfizer
Industry
Eligibility
18 Years to 65 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 2012
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated Oct 5, 2020 · Synced Jul 22, 2026, 10:53 AM EDT
Not listed No phase listed Observational Accepts healthy volunteers

Whole Blood Specimen Collection From Pregnant Subjects

NCT02430584
View directory record Official record
Conditions
Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome, Perinatal Infections
Interventions
Observational - no intervention
Other
Lead sponsor
Progenity, Inc.
Industry
Eligibility
18 Years and older · Female only
Enrollment
5,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2021
U.S. locations
1
States / cities
Chattanooga, Tennessee
Source: ClinicalTrials.gov public record
Updated Sep 16, 2020 · Synced Jul 22, 2026, 10:53 AM EDT
Completed Phase 1Phase 2 Interventional Results available

Dose-Esc/Exp RMC4630 & Cobi in Relapsed/Refractory Solid Tumors & RMC4630& Osi in EGFR+ Locally Adv/Meta NSCLC

NCT03989115
View directory record Official record
Conditions
Solid Tumor
Interventions
RMC-4630, Cobimetinib, Drug: Osimertinib
Drug
Lead sponsor
Revolution Medicines, Inc.
Industry
Eligibility
18 Years and older
Enrollment
113 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
21
States / cities
Scottsdale, Arizona • Duarte, California • Orange, California + 18 more
Source: ClinicalTrials.gov public record
Updated Jun 25, 2023 · Synced Jul 22, 2026, 10:53 AM EDT
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Palliative Care Needs of Children With Rare Diseases and Their Families

NCT06938542
View directory record Official record
Conditions
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome, Early Infantile Epileptic Encephalopathy, FOXG1 Syndrome, KBG Syndrome, Noonan Syndrome, Severe Hemophilia A, Short Bowel Syndrome, Beta-Propeller Protein-Associated Neurodegeneration, Brain Injury of Prematurity With Periventricular Leukomalacia, Chromosome 17p13.3 Microdeletion Syndrome, Chromosome 1q43-1q44 Deletion, Cockayne Syndrome, Congenital Diaphragmatic Hernia, End-Stage Renal Disease With Cloacal Anomaly, Mitochondrial Depletion Disorder, Severe Factor VII Deficiency
Interventions
Family Centered pediatric palliative care for family caregivers of children with rare diseases.
Behavioral
Lead sponsor
Children's National Research Institute
Other
Eligibility
12 Months to 99 Years
Enrollment
480 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2025 – 2029
U.S. locations
1
States / cities
Washington D.C., District of Columbia
Source: ClinicalTrials.gov public record
Updated Jan 27, 2026 · Synced Jul 22, 2026, 10:53 AM EDT
Active, not recruiting Phase 1 Interventional

A Dose Escalation/Expansion Study of ERAS-601 in Patients With Advanced or Metastatic Solid Tumors

NCT04670679
View directory record Official record
Conditions
Advanced or Metastatic Solid Tumors
Interventions
ERAS-601, Cetuximab, Pembrolizumab
Drug
Lead sponsor
Erasca, Inc.
Industry
Eligibility
18 Years to 99 Years
Enrollment
90 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2026
U.S. locations
12
States / cities
Birmingham, Alabama • Sarasota, Florida • Boston, Massachusetts + 9 more
Source: ClinicalTrials.gov public record
Updated Mar 24, 2026 · Synced Jul 22, 2026, 10:53 AM EDT
Completed No phase listed Observational

Genetic Analysis of Left-Right Axis Formations

NCT00341133
View directory record Official record
Conditions
Congenital Heart Disease
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
900 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1999
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 1, 2017 · Synced Jul 22, 2026, 10:53 AM EDT
Not listed Phase 1 Interventional

Dose Escalation of RMC-4630 Monotherapy in Relapsed/Refractory Solid Tumors

NCT03634982
View directory record Official record
Conditions
Solid Tumors
Interventions
RMC-4630
Drug
Lead sponsor
Revolution Medicines, Inc.
Industry
Eligibility
18 Years and older
Enrollment
133 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2023
U.S. locations
12
States / cities
Scottsdale, Arizona • Duarte, California • Orange, California + 9 more
Source: ClinicalTrials.gov public record
Updated Aug 31, 2022 · Synced Jul 22, 2026, 10:53 AM EDT
Recruiting No phase listed Observational

The ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) Study is the Largest U.S.-Based Prospective Study Demonstrating a Circulating Fetal Cell (CFC) Based Approach to Non-invasive Fetal Risk Assessment

NCT07643896
View directory record Official record
Conditions
Pregnant Individuals, Aneuploidy, Down Syndrome (Trisomy 21), 22q11.2 Deletion Syndrome, Trisomy 13, Trisomy 18, Sex Chromosome Abnormalities
Interventions
Not listed
Lead sponsor
BillionToOne Inc.
Industry
Eligibility
Female only
Enrollment
1,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
6
States / cities
Phoenix, Arizona • West Covina, California • Sarasota, Florida + 3 more
Source: ClinicalTrials.gov public record
Updated Jun 11, 2026 · Synced Jul 22, 2026, 10:53 AM EDT
Completed Not applicable Interventional

Computerized Cognitive Skills Training for Adolescents With Velocardiofacial Syndrome

NCT00917189
View directory record Official record
Conditions
Velocardiofacial Syndrome
Interventions
Challenging Our Minds Program
Behavioral
Lead sponsor
State University of New York - Upstate Medical University
Other
Eligibility
12 Years to 16 Years
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2015
U.S. locations
1
States / cities
Syracuse, New York
Source: ClinicalTrials.gov public record
Updated Oct 20, 2016 · Synced Jul 22, 2026, 10:53 AM EDT