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Showing 1–24 of 172 matching trials from the live ClinicalTrials.gov search.
Conditions
Abnormalities, Blood Coagulation Disorder, Brain Disease, Cerebrovascular Accident, Vascular Disease
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Up to 45 Years
Enrollment
130 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
1999 – 2011
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Cranioplasty, Craniofacial Abnormalities, Craniofacial Injuries
Interventions
Stryker's PEEK Customized Implant
Device
Lead sponsor
Stryker Craniomaxillofacial
Industry
Eligibility
42 Months and older
Enrollment
99 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
5
States / cities
Louisville, Kentucky • New Brunswick, New Jersey • New York, New York + 2 more
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Palliative Care Needs of Children With Rare Diseases and Their Families

NCT06938542
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
Terminated Not applicable Interventional Accepts healthy volunteers Results available

Neurodevelopmental Outcomes in Craniosynostosis Repair

NCT04072783
Conditions
Craniosynostoses
Interventions
MRI,DTI, functional MRI
Diagnostic Test
Lead sponsor
University of Arkansas
Other
Eligibility
Up to 4 Years
Enrollment
9 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2024
U.S. locations
1
States / cities
Little Rock, Arkansas
Enrolling by invitation Not applicable Interventional

Book Sharing for Toddlers With Clefts

NCT06338319
Conditions
Cleft Palate, Cleft Lip and Palate
Interventions
Book-Sharing for Toddlers with Clefts (BOOST)
Behavioral
Lead sponsor
Seattle Children's Hospital
Other
Eligibility
20 Months to 32 Months
Enrollment
320 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2028
U.S. locations
1
States / cities
Seattle, Washington
Conditions
Advanced EGFR Mutant Non Small Cell LungCancer (NSCLC), KRAS G12-mutant NSCLC, Esophageal Squamous Cell Cancer (SCC), Head/Neck SCC, Melanoma, Advanced Gastrointestinal Stromal Tumors (GIST), Advanced NRAS/BRAFT wt Cutaneous Melanoma
Interventions
TNO155, TNO155 in combination with EGF816 (nazartinib)
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years to 99 Years
Enrollment
227 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2025
U.S. locations
4
States / cities
Tampa, Florida • Boston, Massachusetts • New York, New York + 1 more
Conditions
Cholangiocarcinoma
Interventions
Pemigatinib
Drug
Lead sponsor
Incyte Corporation
Industry
Eligibility
18 Years and older
Enrollment
147 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
49
States / cities
Anchorage, Alaska • Phoenix, Arizona • Tempe, Arizona + 46 more
Conditions
DiGeorge Syndrome, Shprintzen Syndrome, Chromosome Abnormalities, Abnormalities, Multiple, Conotruncal Cardiac Defects
Interventions
Not listed
Lead sponsor
National Center for Research Resources (NCRR)
NIH
Eligibility
0 Years and older
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
Started 1995
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Completed No phase listed Observational Accepts healthy volunteers

SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

NCT02381457
Conditions
22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18, Trisomy 13, Monosomy X, Sex Chromosome Abnormalities, Cri-du-Chat Syndrome, Angelman Syndrome, Prader-Willi Syndrome, 1p36 Deletion Syndrome
Interventions
Not listed
Lead sponsor
Natera, Inc.
Industry
Eligibility
18 Years to 48 Years · Female only
Enrollment
20,960 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2020
U.S. locations
16
States / cities
San Francisco, California • Camden, New Jersey • Mount Laurel, New Jersey + 10 more
Conditions
Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome, Chromosome Deletion, Aneuploidy
Interventions
Blood sampling for Laboratory Developed Test (LDT) analysis
Other
Lead sponsor
Progenity, Inc.
Industry
Eligibility
18 Years to 54 Years · Female only
Enrollment
760 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
8
States / cities
Scottsdale, Arizona • Eunice, Louisiana • Brooklyn, New York + 5 more
Conditions
Non-Small Cell Lung Cancer (NSCLC)
Interventions
Pemigatinib
Drug
Lead sponsor
Incyte Corporation
Industry
Eligibility
18 Years to 99 Years
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
7
States / cities
Los Angeles, California • Fort Myers, Florida • Miami, Florida + 4 more
Conditions
Noonan Syndrome
Interventions
rhIGF-1/rhIGFBP-3
Drug
Lead sponsor
Insmed Incorporated
Industry
Eligibility
2 Years to 16 Years
Enrollment
24 participants
U.S. locations
2
States / cities
New Hyde Park, New York • Columbus, Ohio
Completed Not applicable Interventional Accepts healthy volunteers Results available

Observe the Effects of the Serkel Cranial Remolding Orthosis on Infants With Deformational Plagiocephaly

NCT06831513
Conditions
Plagiocephaly, Nonsynostotic
Interventions
Serkel 3D CRO
Device
Lead sponsor
University of Texas Southwestern Medical Center
Other
Eligibility
4 Months to 18 Months
Enrollment
18 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2024
U.S. locations
1
States / cities
Dallas, Texas
Conditions
22q11 Deletion Syndrome
Interventions
NB-001, Placebo
Drug · Other
Lead sponsor
Nobias Therapeutics, Inc.
Industry
Eligibility
6 Years to 17 Years
Enrollment
37 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2023
U.S. locations
3
States / cities
Aurora, Colorado • Philadelphia, Pennsylvania • Seattle, Washington
Active, not recruiting No phase listed Observational

Pathogenetic Basis of Aortopathy and Aortic Valve Disease

NCT03440697
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
Conditions
Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability, Autism Spectrum Disorder, Hypotonia, Inborn Errors of Metabolism, Movement Disorders, Genetic Disease, Development Delay, Chromosome Abnormality, Hearing Loss, Dysmorphic Features, Skeletal Dysplasia, Congenital Abnormality, Microcephaly, Macrocephaly
Interventions
Pre-visit prep, usual care + exome seq
Behavioral · Diagnostic Test
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
0 Years and older
Enrollment
548 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2024
U.S. locations
3
States / cities
Asheville, North Carolina • Chapel Hill, North Carolina • Greenville, North Carolina
Conditions
Craniofrontonasal Syndrome, CFNS
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
Not listed
Enrollment
152 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2005 – 2008
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Completed No phase listed Observational Accepts healthy volunteers

Bone Regeneration Using Bone Marrow Stromal Cells

NCT00001391
Conditions
Bone Disease, Craniofacial Abnormality, Healthy
Interventions
Not listed
Lead sponsor
National Institute of Dental and Craniofacial Research (NIDCR)
NIH
Eligibility
18 Years to 70 Years
Enrollment
54 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
1994 – 2010
U.S. locations
1
States / cities
Bethesda, Maryland
Conditions
Locally Advanced Cholangiocarcinoma, Intrahepatic Cholangiocarcinoma, Solid Tumor, Metastatic Cholangiocarcinoma
Interventions
Phase 1 Part A - dose escalation TYRA-200 taken once daily by mouth in 28-day cycles, Phase 1 Part B - dose expansion TYRA-200 taken once daily by mouth in 28-day cycles
Drug
Lead sponsor
Tyra Biosciences, Inc
Industry
Eligibility
18 Years and older
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2027
U.S. locations
4
States / cities
San Francisco, California • Boston, Massachusetts • Columbus, Ohio + 1 more
Conditions
22q11.2 Deletion Syndrome
Interventions
NFC-1
Drug
Lead sponsor
Aevi Genomic Medicine, LLC, a Cerecor company
Industry
Eligibility
12 Years to 17 Years
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Recruiting No phase listed Observational Accepts healthy volunteers

RASopathy Biorepository

NCT04395495
Conditions
RAS Mutation, Neurofibromatosis 1, Noonan Syndrome, Noonan Syndrome With Multiple Lentigines, Noonan Neurofibromatosis Syndrome, Cardiofaciocutaneous Syndrome, Costello Syndrome, Legius Syndrome, Smith-Kingsmore Syndrome, MTOR Gene Mutation, GATOR-1 Gene Mutation, SYNGAP1-Related Intellectual Disability, DLG4, MAPK1 Gene Mutation
Interventions
Not listed
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
Not listed
Enrollment
1,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2017 – 2065
U.S. locations
1
States / cities
Cincinnati, Ohio
Conditions
Marfan Syndrome, Turner Syndrome, Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome, FBN1, TGFBR1, TGFBR2, ACTA2 or MYH11 Genetic Mutation, Bicuspid Aortic Valve Without Known Family History, Bicuspid Aortic Valve With Family History, Bicuspid Aortic Valve With Coarctation, Familial Thoracic Aortic Aneurysm and Dissections, Shprintzen-Goldberg Syndrome, Other Aneur/Diss of Thoracic Aorta Not Due to Trauma, <50yo, Other Congenital Heart Disease
Interventions
Not listed
Lead sponsor
National Heart, Lung, and Blood Institute (NHLBI)
NIH
Eligibility
Not listed
Enrollment
3,706 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2016
U.S. locations
7
States / cities
Honolulu, Hawaii • Baltimore, Maryland • New York, New York + 3 more
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
Conditions
Freeman-Sheldon Syndrome, Arthrogryposis Distal Type 2A, Whistling Face Syndrome, Craniocarpotarsal Dysplasia, Craniocarpotarsal Dystrophy, Freeman-Sheldon Syndrome Variant, Sheldon-Hall Syndrome, Arthrogryposis Distal Type 2B, Gordon Syndrome, Arthrogryposis Distal Type 3, Arthrogryposis Distal Type 1, Arthrogryposis, Distal, Type 1A, Arthrogryposis Distal Type 1B, Arthrogryposis, Distal, Craniofacial Abnormalities, Arthrogryposis
Interventions
PTSD Checklist-Civilian (PCL-C), Modified Flanagan Quality of Life Scale, Center for Epidemiologic Studies Depression Scale (CES-D), Functional Enquiry (or Review of Systems) Form, Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome (STOP-FSS) Questionnaire, FSRG Semi-Structured Quality of Life Interview (FSRG SSQLI), Medical Records Review
Other
Lead sponsor
Freeman-Sheldon Research Group, Inc.
Other
Eligibility
Not listed
Enrollment
2 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2022
U.S. locations
1
States / cities
Buckhannon, West Virginia