Clinical Trials on Craniofacial Abnormalities

Total 26407 results

Novo Nordisk A/S

Completed

Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome

Noonan Syndrome | Genetic Disorder

Japan
Assistance Publique - Hôpitaux de Paris

Unknown

Aromatase Inhibitor in Bone Maturation, Children With Silver Russell or Prader-Willi Syndrome (ANASILPRA)

Prader-Willi Syndrome | Silver Russell Syndrome

France
Novo Nordisk A/S

Completed

Post Marketing Surveillance on Long-term Use With Norditropin® (Short Stature Due to Noonan Syndrome)

Noonan Syndrome | Genetic Disorder

Japan
Enzyvant Therapeutics GmBH
National Institute of Allergy and Infectious Diseases (NIAID); Eunice Kennedy... and other collaborators

Completed

Thymus Transplantation Dose in DiGeorge #932

DiGeorge Syndrome | DiGeorge Anomaly | Complete DiGeorge Anomaly | Complete DiGeorge Syndrome

United States
The Hospital for Sick Children

Terminated

A Physiological Study to Determine the Enteral Threonine Requirements in Infants Aged 1 to 6 Months (INFORALTHR)

Tracheoesophageal Fistula | Diaphragmatic Hernia | Surgical Infants on NG/NJ/J/G-tube Feeds | Pierre-Robin Syndrome

Canada
National Human Genome Research Institute (NHGRI)
Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators

Completed

Study on Moebius Syndrome and Congenital Facial Weakness Disorders

Birth Defects | Brain Disorders | Craniofacial Differences

United States
Enzyvant Therapeutics GmBH
National Institute of Allergy and Infectious Diseases (NIAID); Eunice Kennedy... and other collaborators

Completed

Phase I/II Thymus Transplantation With Immunosuppression #950 (#950)

DiGeorge Anomaly | Complete DiGeorge Anomaly | Complete DiGeorge Syndrome | Complete Atypical DiGeorge Anomaly | Complete Atypical DiGeorge Syndrome

United States
Bausch Health Americas, Inc.

Terminated

Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velocardiofacial Syndrome

Psychosis | Velo-cardio-facial Syndrome

United States
Eunice Kennedy Shriver National Institute of Child...

Recruiting

MEHMO Natural History and Biomarkers

Epilepsy | Obesity | Intellectual Disability | Microcephaly | Nervous System Malformations | Hypogonadisms

United States
Boston Children's Hospital
Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators

Recruiting

Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations

Autism | ASD | Macrocephaly | PTEN | PTEN Hamartoma Tumor Syndrome

United States
Universidad de la Republica

Active, not recruiting

Effect of Acupuncture on Craniomandibular Pain of Myofascial Origin.

Myofascial Pain | Craniofacial Pain

Uruguay
University Hospital, Bordeaux
Fondation Syndrome de Rubinstein-Taybi

Completed

Rubinstein-Taybi Syndrome: Functional Imaging and Therapeutic Trial (RUBIVAL)

Rubinstein-Taybi Syndrome

France
Chang Gung Memorial Hospital

Completed

Treatment Protocol and Long-Term Outcomes in Craniofacial Fibrous Dysplasia (CFD)

Craniofacial Fibrous Dysplasia

Taiwan
Centre Hospitalier Universitaire Dijon
Novartis Pharmaceuticals

Recruiting

Assessment of the Efficacy and Safety of Alpelisib (BYL719) in Pediatric and Adult Patients With Megalencephaly-CApillary Malformation Polymicrogyria Syndrome (MCAP) (SESAM)

Megalencephaly-capillary Malformation Polymicrogyria Syndrome (MCAP)

France
Universidad Industrial de Santander
University of North Carolina, Chapel Hill

Completed

Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero (ZENI)

Microcephaly | Mental Retardation

Colombia
University Hospital Tuebingen

Recruiting

First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome (ReFaPo02)

Pregnancy

Germany
Institut National de la Santé Et de la Recherche...

Recruiting

National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS) (COSY)

Vascular Malformations | PIK3CA-related Overgrowth Spectrum | Megalencephaly | Lymphatic Malformation | CLOVES Syndrome | Venous Malformation | Klippel Trenaunay Syndrome | MCAP | Macrodactyly

France
Zimmer Biomet

Completed

A Post Market Clinical Follow-up Study on Biomet Microfixation HTR PEKK (Midface), Facial & Mandibular Plates.

Tumor | Neuroma | Mandibular Fractures | Treacher Collins Syndrome | Facial Fracture | Fibrous Dysplasia | Hemifacial Microsomia | Miller Syndrome | Osteoma of Mandibular Condyle | Cleft Face | Nager Syndrome

Argentina
Virginia Polytechnic Institute and State University

Recruiting

The FBRI VTC Neuromotor Research Clinic

Cerebral Palsy | Microcephaly | Acquired Brain Injury | Autism | Trauma, Brain | Neuromotor Impairments | Pediatric Stroke

United States
University Health Network, Toronto

Completed

Put a Face to a Name (Part A): The Effects of Photographic Aids on Patient Satisfaction, Clinician Communication, and Quality of Care (Face2Name)

Effects of Photographic Aids (Photos of Faces) on Patient Recall of Their Clinical Care Team | Effects of Photographic Aids (Photos of Faces) on Clinician-patient Communication | Effects of Photographic Aids (Photos of Faces) on Overall Patient Satisfaction

Canada
National Institute of Allergy and Infectious Diseases...

Recruiting

Natural History and Genetics of Food Allergy and Related Conditions

Eosinophilic Esophagitis | Atopic Dermatitis | Food Allergy | Loeys-Dietz Syndrome

United States
NYU Langone Health

Recruiting

Craniomaxillofacial and Upper Extremity Allotransplantation

Facial Injuries | Hand Injuries | Facial Deformity | Craniofacial Injuries | Upper Extremity Injuries | Face Injuries

United States
Centre Hospitalier Universitaire Vaudois
Swiss National Science Foundation

Recruiting

Genetics of Reproductive Disorders (Including Kallmann Syndrome) and Cleft Lip and/or Palate

Kallmann Syndrome | Hypogonadotropic Hypogonadism | Hypothalamic Amenorrhea | Polycystic Ovarian Syndrome | Precocious Puberty | Cleft Lip and Palate | Cleft Palate | Cleft Lip

Switzerland
National Cancer Institute (NCI)

Recruiting

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

Neurofibromatosis 1 | Noonan Syndrome | Legius Syndrome | Cardiofaciocutaneous Syndrome | Costello Syndrome

United States
Andres Schanzer

Recruiting

Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices (CARPE-CMD)

Marfan Syndrome | Ehlers-Danlos Syndrome | Aortic Arch Aneurysm | Complex Aortic Aneurysms | Juxtarenal Aneurysms | Loeys-Dietz Syndrome | Thoracoabdominal Aneurysms | Pararenal Aneurysms

United States
Assistance Publique - Hôpitaux de Paris

Not yet recruiting

Scleral Buckling for Retinal Detachment Prevention in Genetically Confirmed Stickler Syndrome (STL-DR-PREV)

Stickler Syndrome

France
Assistance Publique - Hôpitaux de Paris

Completed

Microcephaly Genetic Deficiency in Neural Progenitors (MICROFANC)

Microcephaly

France
Hospices Civils de Lyon

Unknown

New Variants Involved in Taybi-Linder Syndrome (NewViTALS)

Genetic Syndrome | Taybi Linder Syndrome

France
Novo Nordisk A/S

Recruiting

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

Turner Syndrome | Noonan Syndrome | SGA | ISS

Korea, Republic of, Malaysia, Netherlands, Spain, Poland, United States
Beijing Tiantan Hospital

Completed

The Predictive Value of Peak Cough Flow for Endotracheal Extubation of Patients After Craniotomy (PCFET)

Endotracheal Tube | Craniofacial Pain Syndrome | Extubation Success | Cough Peak Flow

China
Novo Nordisk A/S

Recruiting

A Research Study to Compare Somapacitan Once a Week With Norditropin® Once a Day in Children Who Need Help to Grow (REAL 8)

SGA, Turner Syndrome, Noonan Syndrome, ISS

Belgium, Korea, Republic of, United States, Ireland, Malaysia, United Kingdom, Finland, France, Netherlands, Thailand, China, Japan, Portugal, Israel, Brazil, India, Austria, Bulgaria, Canada, Croatia, Germany, Greece, Italy, Poland, Saudi... and more
The Chaim Sheba Medical Center

Recruiting

The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS)

Fragile X Syndrome | Williams Syndrome | Velocardiofacial Syndrome

Israel
Stanford University
The Marfan Foundation

Active, not recruiting

Single-Session "Empowered Relief" Class for Marfan Syndrome and Related Conditions

Chronic Pain | Marfan Syndrome | Vascular Ehlers-Danlos Syndrome | Loeys-Dietz Syndrome

United States
Hospices Civils de Lyon

Not yet recruiting

Study of the Pathophysiology of RNU4ATAC and RTTN Associated Syndromes (ATAC)

Lowry Wood Syndrome | Roifman Syndrome | Taybi Linder Syndrome | Microcephalic Osteodysplastic Primordial Dwarfism Types I and III

France
Assistance Publique - Hôpitaux de Paris

Not yet recruiting

Microcephaly, Fanconi Anemia and Praxial Disorders (MicroFancII)

Fanconi Anemia

France
University of California, San Francisco

Completed

Trial of Bilateral Sagittal Split Osteotomy Induced Paresthesia Using Ultrasonic vs. Reciprocating Saw Instrumentation

Paresthesia | Nerve Injury | Fracture | Surgical Complication | Mandibular Hypoplasia | Mandibular Nerve Injuries | Mandibular Retrognathism | Mandibular Prognathism | Nerve Entrapments | Mandibular Hyperplasia

United States
Golden Jubilee National Hospital
University of Glasgow; Royal Infirmary of Edinburgh; Aberdeen Royal Infirmary; Network...

Not yet recruiting

Proximal Aortopathy in Scotland - Epidemiology and Surgical Outcomes

Aortic Valve Insufficiency | Marfan Syndrome | Bicuspid Aortic Valve | Aortic Diseases | Aortic Dissection | Aortic Aneurysm, Thoracic | Ehlers-Danlos Syndrome | Aortic Ectasia | Loeys-Dietz Syndrome
National Institute of Neurological Disorders and...
Baylor College of Medicine

Completed

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

Prader-Willi Syndrome | DiGeorge Syndrome | Williams Syndrome | Angelman Syndrome | Smith-Magenis Syndrome | Chromosome Abnormalities | Shprintzen Syndrome

United States
Boston Children's Hospital

Recruiting

Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome

Genetic Disease | Chopra-Amiel-Gordon Syndrome | CAGS | ANKRD17

United States
Progenity, Inc.

Unknown

Whole Blood Specimen Collection From Pregnant Subjects

Down Syndrome | DiGeorge Syndrome | Turner Syndrome | Klinefelter Syndrome | Edwards Syndrome | Patau Syndrome | Perinatal Infections

United States
FARO T. OWIESY, M.D
Ohsi, Steven, M.D; Radfar, Amir, M.D

Completed

The Presence and Role of Zygomatic-temporal Neuroma Triggering Cluster Headache

Cluster Headache | Craniofacial Pain Syndrome

United States
Cardiff University
University of Canterbury

Recruiting

Mindful Parenting - A Single Case Experimental Design Study

Cleft Lip and Palate | Parenting | Neurofibromatoses | Skin Condition | Alopecia | Craniofacial | Limb Difference

United Kingdom
Fondation Ophtalmologique Adolphe de Rothschild

Recruiting

Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies (GENEPHY)

Tuberous Sclerosis | Focal Cortical Dysplasia | Hemimegalencephaly | Refractory Focal Epilepsy | Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia in Epilepsy (MOGHE)

France
University of Colorado, Denver

Completed

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

Marfan Syndrome | Turner Syndrome | Loeys-Dietz Syndrome | Thoracic Aortic Aneurysm and Dissection Syndromes | Ehlers-Danlos Type IV Syndrome

United States
Progenity, Inc.

Completed

Expanded Noninvasive Genomic Medical Assessment: The Enigma Study

Down Syndrome | Aneuploidy | DiGeorge Syndrome | Turner Syndrome | Klinefelter Syndrome | Chromosome Deletion | Edwards Syndrome | Patau Syndrome

United States
Natera, Inc.
Children's Hospital of Philadelphia; Montefiore Medical Center; University of... and other collaborators

Completed

SNP-based Microdeletion and Aneuploidy RegisTry (SMART) (SMART)

Prader-Willi Syndrome | DiGeorge Syndrome | 22q11 Deletion Syndrome | Angelman Syndrome | Trisomy 21 | Trisomy 18 | Trisomy 13 | Monosomy X | Sex Chromosome Abnormalities | 1p36 Deletion Syndrome | Cri-du-Chat Syndrome

United States, Australia, Ireland, Spain, Sweden, United Kingdom
Beijing Tiantan Hospital
Peking University People's Hospital; Peking Union Medical College Hospital; Chinese... and other collaborators

Recruiting

Deep Brain Stimulation for Idiopathic Craniofacial Dystonia: GPi or STN (MEIGES)

Deep Brain Stimulation | Craniofacial Dystonia

China
Oslo University Hospital
University of Oslo; Ullevaal University Hospital; University Hospital, Akershus

Withdrawn

Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes.

Microcephaly | Hearing Loss | Mental Retardation | Chorioretinitis

Norway
Institut National de la Santé Et de la Recherche...

Recruiting

IDMet (RaDiCo Cohort) (RaDiCo-IDMet) (IDMet)

Prader-Willi Syndrome | Angelman Syndrome | Beckwith-Wiedemann Syndrome | Pseudohypoparathyroidism | Silver Russell Syndrome | Transient Neonatal Diabetes Mellitus | Temple Syndrome | Kagami-Ogata Syndrome | Familial Precocious Puberty

France
Assistance Publique - Hôpitaux de Paris

Completed

The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (NANPIM)

Seckel Syndrome | Microcephalic Osteodysplastic Primordial Dwarfism Type II

France

Clinical Trials on Craniofacial Abnormalities

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