Clinical Trials on Congenital Deformity

Total 9037 results

Forbes Porter, M.D.
Eunice Kennedy Shriver National Institute of Child Health and Human Development...

Completed

Simvastatin Therapy in Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

United States
Medical University of Graz

Completed

Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients

Skin Cancer | Basal Cell Nevus Syndrome | Xeroderma Pigmentosum

Austria
RTI International
University of North Carolina, Chapel Hill

Enrolling by invitation

Parent and Infant Inter(X)Action Intervention (PIXI)

Tuberous Sclerosis | Down Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Rett Syndrome | Turner Syndrome | Williams Syndrome | Angelman Syndrome | Chromosome 22q11.2 Deletion Syndrome | Klinefelter Syndrome | Phelan-McDermid Syndrome | Dup15Q Syndrome | Smith Magenis Syndrome

United States
Children's Oncology Group
National Cancer Institute (NCI)

Completed

Identification of de Novo Fanconi Anemia in Younger Patients With Newly Diagnosed Acute Myeloid Leukemia

Chronic Myelomonocytic Leukemia | Fanconi Anemia | Childhood Acute Erythroleukemia (M6) | Childhood Acute Megakaryocytic Leukemia (M7) | Childhood Acute Monoblastic Leukemia (M5a) | Childhood Acute Monocytic Leukemia (M5b) | Childhood Acute Myeloblastic Leukemia With Maturation (M2) | Childhood Acute... and other conditions

United States
TScan Therapeutics, Inc.

Recruiting

A Basket Study of Customized Autologous TCR-T Cell Therapies in Patients With Locally Advanced (Unresectable) or Metastatic Solid Tumors

Melanoma | Cervical Cancer | Head and Neck Cancer | HPV-Related Malignancy | Ovarian Cancer | HPV-Related Carcinoma | HPV-Related Cervical Carcinoma | HPV Positive Oropharyngeal Squamous Cell Carcinoma | Non-small Cell Carcinoma | HPV - Anogenital Human Papilloma Virus Infection | HPV-Related Adenocarcinoma | HPV-Related Adenosquamous Carcinoma and other conditions

United States
Richard Frye
Autism Discovery and Treatment Foundation

Recruiting

Patterns of Neurodevelopmental Disorders

Epilepsy | Neurodevelopmental Disorders | Autism Spectrum Disorder | Down Syndrome | Mitochondrial Encephalomyopathies | Pediatric Acute-Onset Neuropsychiatric Syndrome | Cerebral Folate Deficiency | Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal Infection

United States
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
Fundacion para la Investigacion Biomedica del Hospital...
University of Alcala; Hospital Universitario Ramon y Cajal; Instituto de Salud... and other collaborators

Recruiting

Prevalence of Hyperandrogenism in Type 1 Diabetes

Polycystic Ovary Syndrome | Hyperandrogenism | Type 1 Diabetes | Hirsutism | Oligomenorrhea | Ovulation Disorder

Spain
Joshua Mann, MPH
National Organization for Rare Disorders

Recruiting

MyVHL: Patient Natural History Study (MyVHL)

Von Hippel-Lindau Disease | Hereditary Leiomyomatosis and Renal Cell Cancer | Birt-Hogg-Dube Syndrome | SDHB Gene Mutation

United States
Washington University School of Medicine
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National... and other collaborators

Recruiting

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

Diabetes Mellitus | Deafness | Ataxia | Diabetes Insipidus | Wolfram Syndrome | Optic Nerve Atrophy

United States
Paul Szabolcs

Recruiting

Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT (HSCT+RIC)

Congenital Bone Marrow Failure Syndromes | Inflammatory Conditions | Primary Immunodeficiency (PID) | Inherited Metabolic Disorders (IMD) | Hereditary Anemias | Systemic Juvenile Idiopathic Arthritis (sJIA)

United States
University of Valencia
Hospital Universitario La Fe; Hospital General Universitario de Valencia; Hospital...

Completed

Intervention in Chronic Pediatric Patients and Their Families. (FACTORADAPT)

Asthma | Type 1 Diabetes | Allergic Rhinitis | Cystic Fibrosis | Pulmonary Disease | Atopic Dermatitis | Food Allergy | Allergic Asthma | Rhinoconjunctivitis | Primary Ciliary Dyskinesia | Short Stature

Spain
Cure HHT
University of Colorado, Denver; Massachusetts General Hospital; Mayo Clinic; Children... and other collaborators

Recruiting

Comprehensive HHT Outcomes Registry of the United States (CHORUS) (CHORUS)

Arteriovenous Malformations | Epistaxis | Hereditary Hemorrhagic Telangiectasia | GastroIntestinal Bleeding | Telangiectasia | Vascular Malformation | Cerebral Arteriovenous Malformations

United States
Travere Therapeutics, Inc.

Recruiting

Study of Sparsentan Treatment in Pediatrics With Proteinuric Glomerular Diseases (EPPIK)

Focal Segmental Glomerulosclerosis | Immunoglobulin A Nephropathy | Minimal Change Disease | Alport Syndrome | IgA Vasculitis

United States, Italy, Netherlands, Poland, Spain, United Kingdom, Germany, Sweden
Nemours Children's Clinic

Recruiting

Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases

Charcot-Marie-Tooth Disease | Motor Neuron Disease | Amyotrophic Lateral Sclerosis | Muscular Dystrophy | Spinal Muscular Atrophy | Neuromuscular Disease | Spinal Muscular Atrophy With Respiratory Distress 1 | Peroneal Muscular Atrophy

United States
Children's Oncology Group
National Cancer Institute (NCI)

Active, not recruiting

Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor

Stage I Kidney Wilms Tumor | Stage II Kidney Wilms Tumor | Stage III Kidney Wilms Tumor | Stage IV Kidney Wilms Tumor | Adult Kidney Wilms Tumor | Beckwith-Wiedemann Syndrome | Childhood Kidney Wilms Tumor | Diffuse Hyperplastic Perilobar Nephroblastomatosis | Rhabdoid Tumor of the Kidney | Stage V Kidney...

United States, Canada, Australia, New Zealand, Puerto Rico, Israel
Masonic Cancer Center, University of Minnesota

Terminated

Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation (HaploHCT) Following Reduced Intensity Conditioning (RIC) for Selected High Risk Non-Malignant Diseases

Sickle Cell Disease | Thalassemia | Cerebral Adrenoleukodystrophy | Inherited Metabolic Disorders | High Risk Hematologic Disorders

United States
Rush University Medical Center
Emory University

Enrolling by invitation

Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities

Tuberous Sclerosis | Fragile X Syndrome | Rett Syndrome | Hamartoma Syndrome, Multiple | Angelman Syndrome | Creatine Deficiency, X-linked | Telomeric 22Q13 Monosomy Syndrome | Chromosome 15Q, Partial Deletion

United States
University of Virginia

Completed

Effects of Prebiotics on Gut Microbiome in Patients Undergoing HSCT (HCTDiet)

Acute Myeloid Leukemia | Myelodysplastic Syndromes | Multiple Myeloma | Hodgkin Disease | Hodgkin Lymphoma | Myelofibrosis | Acute Lymphoblastic Leukemia | Mantle Cell Lymphoma | Sickle Cell Disease | Non Hodgkin Lymphoma | Acute Lymphocytic Leukemia | Myeloproliferative Neoplasm

United States
Phoenix Children's Hospital

Completed

A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT

Myelodysplastic Syndromes | Vitamin D Deficiency | Pediatric Cancer | Aplastic Anemia | Stem Cell Transplant Complications | Sickle Cell Anemia in Children | Thalassemia in Children | Blood Disorder | Pediatric Acute Myeloid Leukemia | Pediatric Acute Lymphoid Leukemia

United States
Institute for Neurodegenerative Disorders

Completed

A PET Brain Imaging Study of mGluR5 in Subjects With Neuropsychiatric Conditions (FPEB)

Parkinson Disease | Alzheimer Disease | Mild Cognitive Impairment | Fragile X Syndrome | Huntington Disease | Autistic Spectrum Disorders

United States
Stanford University

Completed

Screening for Cervical Intraepithelial Neoplasia Using Self-collected Menstrual Blood

HPV - Anogenital Human Papilloma Virus Infection

United States
National Cancer Institute (NCI)
Childrens Oncology Group (COG); LLS PedAL LLC

Recruiting

Highest Dose of Uproleselan in Combination With Fludarabine and Cytarabine for Patients With Acute Myeloid Leukemia, Myelodysplastic Syndrome, or Mixed Phenotype Acute Leukemia Relapsed or Refractory and That Expresses E-selectin Ligand on the Cell Membrane

Down Syndrome | Recurrent Acute Myeloid Leukemia | Recurrent Myelodysplastic Syndrome | Refractory Acute Myeloid Leukemia | Refractory Myelodysplastic Syndrome | Recurrent Mixed Phenotype Acute Leukemia | Refractory Mixed Phenotype Acute Leukemia | Acute Myeloid Leukemia Post Cytotoxic Therapy | Myelodysplastic...

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

Completed

Study of Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome

United States
University of Nebraska
University of Colorado, Denver; University of Pittsburgh; Children's Hospital...

Completed

Smith-Lemli-Opitz Syndrome and Cholic Acid

Smith-Lemli-Opitz Syndrome

United States
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
Lebanese University

Completed

Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility (CS-EOSP-ICSI)

Polycystic Ovary Syndrome | Endometriosis | Ectopic Pregnancy | Premature Ovarian Failure | Female Infertility Endocrine | Female Infertility | Fibroids | Salpingitis | Hydrosalpinx | Female Infertility Due to Ovulatory Disorder | Female Infertility of Tubal Origin | Female Infertility Due to Tubal Block | Female... and other conditions

Lebanon
Hadassah Medical Organization

Withdrawn

GLP Analogs for Diabetes in Wolfram Syndrome Patients

Wolfram Syndrome | Diabetes Mellitus Associated With Genetic Syndrome
M.D. Anderson Cancer Center
National Cancer Institute (NCI)

Terminated

68Ga-DOTA-TOC PET/CT in Imaging Participants With Neuroendocrine Tumors

Meningioma | Neuroendocrine Neoplasm | Multiple Endocrine Neoplasia Type 1 | Von Hippel-Lindau Syndrome | Metastatic Well Differentiated Neuroendocrine Neoplasm | Somatostatin Positive Neoplastic Cells Present

United States
Mercy Research

Completed

Stereotactic Body Radiotherapy for Spine Tumors

Arteriovenous Malformations | Neurofibroma | Chordoma | Meningioma | Schwannoma | Spinal Metastases | Paragangliomas | Vertebral Metastases | Benign Spinal Tumors

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

Completed

Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions

Urogenital Abnormalities | Mental Retardation | Wilm's Tumor | WAGR Syndrome | Aniridia

United States
Washington University School of Medicine
Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators

Completed

Tracking Neurodegeneration in Early Wolfram Syndrome (TRACK)

Diabetes Mellitus | Type 1 Diabetes | Diabetes Insipidus | Wolfram Syndrome

United States
Michael Iv

Completed

Using Ferumoxytol-Enhanced MRI to Measure Inflammation in Patients With Brain Tumors or Other Conditions of the CNS

Brain Injury | Brain Cancer | Brain Tumors | Primary Brain Neoplasm | Ischemic Cerebrovascular Accident | Central Nervous System Degenerative Disorder | Central Nervous System Infectious Disorder | Central Nervous System Vascular Malformation | Hemorrhagic Cerebrovascular Accident

United States
Universitaire Ziekenhuizen KU Leuven
KU Leuven

Unknown

PREPL in Health and Disease (PHD)

Obesity | Healthy Volunteers | Prader-Willi Syndrome | Muscle Hypotonia | Hypotonia-Cystinuria Syndrome | Dwarfism, Growth Hormone Deficiency

Belgium
Arkansas Colleges of Health Education

Recruiting

High Intensity Functional Training for Individuals With Neurologic Diagnoses and Their Care Partners (SHIFT-AR)

Stroke | Multiple Sclerosis | Brain Injuries | Parkinson Disease | Spinal Cord Injuries | Neurologic Disorder | Poliomyelitis | Spina Bifida

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

Recruiting

Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism

CHILD Syndrome | Smith Lemli Opitz Syndrome | Lathosterolosis | Desmosterolosis

United States
Centre d'Etude des Cellules Souches
Genethon

Recruiting

Efficacy Study of Daily Administration of VPA in Patients Affected by Wolfram Syndrome (AUDIOWOLF)

Wolfram Syndrome

France, Spain
Merck Sharp & Dohme LLC

Recruiting

Belzutifan/MK-6482 for the Treatment of Advanced Pheochromocytoma/Paraganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), Von Hippel-Lindau (VHL) Disease-Associated Tumors, Advanced Gastrointestinal Stromal Tumor (wt GIST), or Solid Tumors With HIF-2α Related Genetic Alterations (MK-6482-015)

Von Hippel-Lindau Disease | Pancreatic Neuroendocrine Tumor | Pheochromocytoma/Paraganglioma | Advanced Gastrointestinal Stromal Tumor | HIF-2α Mutated Cancers

Canada, United States, Denmark, France, Germany, Hungary, Italy, Russian Federation, Spain, Sweden, Turkey, Israel, United Kingdom, Netherlands, Australia, China, Singapore, Japan
LLS PedAL Initiative, LLC
National Cancer Institute (NCI); Children's Oncology Group

Recruiting

The Pediatric Acute Leukemia (PedAL) Screening Trial - A Study to Test Bone Marrow and Blood in Children With Leukemia That Has Come Back After Treatment or Is Difficult to Treat - A Leukemia & Lymphoma Society and Children's Oncology Group Study

Acute Myeloid Leukemia | Juvenile Myelomonocytic Leukemia | Acute Lymphoblastic Leukemia | Myelodysplastic Syndrome | Myeloid Leukemia Associated With Down Syndrome | Mixed Phenotype Acute Leukemia | Acute Myeloid Leukemia Post Cytotoxic Therapy | Myelodysplastic Syndrome Post Cytotoxic Therapy

United States, Canada, Australia, Puerto Rico, New Zealand
National Medical Research Center for Therapy and...
Moscow State University of Medicine and Dentistry

Recruiting

Genetic Testing and Motivational Counseling for FH (GENMOTIV-FH)

Medication Adherence | Adherence, Medication | Treatment Adherence | Familial Hypercholesterolemia | Motivational Interviewing | Adherence, Patient | Treatment Adherence and Compliance | Patient Compliance | Adherence | Hypercholesterolemia, Familial | Patient Adherence | Hypercholesterolemia, Autosomal Dominant and other conditions

Russian Federation
Amylyx Pharmaceuticals Inc.

Active, not recruiting

AMX0035 in Adult Patients With Wolfram Syndrome

Wolfram Syndrome

United States
Westfälische Wilhelms-Universität Münster
ICON plc

Unknown

Natural History of GACI With or Without ARHR2 or PXE

Pseudoxanthoma Elasticum | Generalized Arterial Calcification in Infancy | Autosomal Recessive Hypophosphatemic Rickets

Germany
Beijing Tiantan Hospital

Recruiting

Registry of Multicenter Brain-Heart Comorbidity in China (BHC-C)

Heart Failure | Atrial Fibrillation | Ischemic Heart Disease | Cerebral Infarction | Cardiac Arrest | Moyamoya Disease | Subarachnoid Hemorrhage | Aortic Diseases | Cerebral Aneurysm | Intracerebral Hemorrhage | Occlusion and Stenosis of Precerebral Arteries | Occlusion and Stenosis of Cerebellar Arteries | Arteriovenous...

China
Stephen G. Kaler, MD

Recruiting

NORTHERA (DROXIDOPA) for Dysautonomia in Adult Survivors of Menkes Disease and Occipital Horn Syndrome

Menkes Disease | Occipital Horn Syndrome

United States
Children's Hospital Medical Center, Cincinnati

Recruiting

Two Point Discrimination (TPD)

Low Back Pain | Chronic Widespread Pain | Fibromyalgia | Complex Regional Pain Syndrome (CRPS) | Ehlers-Danlos Syndrome (EDS) | Amplified Musculoskeletal Pain Syndrome (AMPS)

United States
Peloton Therapeutics, Inc., a subsidiary of Merck...

Active, not recruiting

A Phase 2 Study of Belzutifan (PT2977, MK-6482) for the Treatment of Von Hippel Lindau (VHL) Disease-Associated Renal Cell Carcinoma (RCC) (MK-6482-004)

VHL - Von Hippel-Lindau Syndrome | VHL Gene Mutation | VHL Syndrome | VHL Gene Inactivation | VHL-Associated Renal Cell Carcinoma | VHL-Associated Clear Cell Renal Cell Carcinoma

United States, Denmark, United Kingdom, France
University of Birmingham

Active, not recruiting

Efficacy and Safety Trial of Sodium Valproate, in Paediatric and Adult Patients With Wolfram Syndrome

Wolfram Syndrome

France, United Kingdom, Poland, Spain
Xperiome
The Touro College and University System

Withdrawn

Medication Adherence and Non-adherence in Adults With Rare Disease

Hemophilia A | Hemophilia B | Idiopathic Pulmonary Fibrosis | Myasthenia Gravis | Cystic Fibrosis | Sickle Cell Disease
Jakub Antczak

Completed

Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy

Adrenomyeloneuropathy | Hereditary Spastic Paraplegia

Poland
Christopher Dvorak

No longer available

Expanded Access Protocol (EAP) Using the CliniMACS® Device for Pediatric Haplocompatible Donor Stem Cell Transplant

Acute Myeloid Leukemia | Leukocyte Disorders | Acute Lymphoblastic Leukemia | Chronic Myeloid Leukemia | Myelodysplastic Syndrome | Cytopenias | Immune Deficiency | Lymphomas | Bone Marrow Failure | Osteopetrosis | Hemoglobinopathy | Anemia Due to Intrinsic Red Cell Abnormality

United States

Clinical Trials on Congenital Deformity

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Drug Interventions

CROs by country

CROs in Singapore

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Rare Diseases

Drug Interventions

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