Search clinical trials for: genetic diseases and dysmorphic syndromes

Total 477173 results

Samsung Medical Center

Not yet recruiting

Evaluate the Safety and Potential Efficacy of Human Wharton's Jelly-derived Mesenchymal Stem Cells With Charcot-Marie-Tooth Disease Type 1E

Charcot-Marie-Tooth Disease, Type 1
Tampere University Hospital
Tampere University

Recruiting

Urothelial Cancer Screening in Individuals With Lynch Syndrome Using a Urine Tumor DNA Panel (LS-URO Study)

Lynch Syndrome | Urothelial Carcinoma

Canada, Finland
Hospital Universitari Vall d'Hebron Research Institute
Erasme University Hospital; Cyprus Institute of Neurology and Genetics; EuroBloodNet...

Recruiting

RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs) (RADeep)

Iron Metabolism Disorders | Sickle Cell Disease | Thalassemia | Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder | Anemia Due to Membrane Defect | CDA | Sideroblastic Anemia | Constitutional Aplastic Anemia | Hereditary Anemia

Spain
Foundation For Rare Disease Research
Institute for Asthma & Allergy; Virant Diagnostics, Inc.; MedBio Reference Laboratories...

Not yet recruiting

Angioedema Biomarker Research Study

Angioedema | Urticaria | C1 Inhibitor Deficiency | Angioedemas, Hereditary | Mastocytosis | Indolent Systemic Mastocytosis | Systemic Mastocytoses | ACE Inhibitor-Induced Angioedema
New York Stem Cell Foundation Research Institute
Charcot-Marie-Tooth Association

Recruiting

Charcot-Marie-Tooth Disease (CMT) Biological Sample Collection for iPSC Generation and Biobanking

Healthy | Charcot-Marie-Tooth Disease

United States
Baylor College of Medicine
Center for Cell and Gene Therapy, Baylor College of Medicine

Not yet recruiting

Immunotherapy For Adults With GPC3-Positive Solid Tumors Using IL-15 and IL-21 Armored GPC3-CAR T Cells

Hepatocellular Carcinoma | Liposarcoma | Rhabdomyosarcoma | Wilms Tumor | Hepatoblastoma | Malignant Rhabdoid Tumor | Yolk Sac Tumor | Embryonal Sarcoma of Liver

United States
IRCCS San Raffaele
Università Vita-Salute San Raffaele

Recruiting

Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells (SoMuKT)

Carcinoma, Renal Cell | Von Hippel-Lindau Disease

Italy
IRCCS San Raffaele

Recruiting

Overtaking Intra and Inter Tumoral Heterogeneity In Von Hippel-Lindau Related Renal Cancer (ITHORinVHL)

Clear Cell Renal Cell Carcinoma | VHL Syndrome

Italy
Quince Therapeutics S.p.A.
Biotrial

Not yet recruiting

To Evaluate the Effects of EryDex in Patients With A-T (NEAT)

Ataxia Telangiectasia

Belgium, United States, Denmark, Germany, Italy, Norway, Poland, Spain, United Kingdom
University of Alabama at Birmingham
Children's Hospital of Philadelphia; Congressionally Directed Medical Research...

Not yet recruiting

Selumetinib for the Prevention of Plexiform Neurofibroma Growth in NF Type 1 (NF114)

Neurofibromatosis 1 | Plexiform Neurofibroma
ETH Zurich
University of Zurich; Agroscope Liebefeld-Posieux Research Station ALP; Swiss...

Recruiting

Lactobreath: A Study to Diagnose Lactose Intolerance Using Breath Markers (Lactobreath)

Lactose Intolerance

Switzerland
AstraZeneca

Recruiting

Observational Study to Evaluate the Effect and Safety of Selumetinib in Pediatric Patients With NF1-PNs (PEDIA)

Neurofibroma, Plexiform

China
Assiut University

Not yet recruiting

Celiac Disease Among Egyptian Children With Unexplained Short Stature

Celiac Disease
National Institute for Mother and Child Health...
Marie Curie Emergency Children's Hospital, Bucharest; Victor Gomoiu Children...

Recruiting

Neutrophil Oxidative Burst in Early and Late Onset Pediatric Inflammatory Bowel Disease

Chronic Granulomatous Disease

Romania
Royal Marsden NHS Foundation Trust

Recruiting

Inherited Cancer Early Diagnosis (ICED) Study (ICED)

Lynch Syndrome | Familial Adenomatous Polyposis | Hereditary Diffuse Gastric Cancer | Peutz-Jeghers Syndrome | Cowden Syndrome | Li Fraumeni Syndrome | MutYH-associated Polyposis | SMAD4 Gene Mutation

United Kingdom
David M. Ritter

Recruiting

Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry (TSC-LAM Registry)

Tuberous Sclerosis Complex | Lymphangioleiomyomatosis

United States
Johns Hopkins University
Neurofibromatosis Therapeutic Acceleration Program

Recruiting

Mirdametinib Monotherapy in Adults With Neurofibromatosis 1 (NF1) and Cutaneous Neurofibromas (cNF). (Mirda)

Cutaneous Neurofibroma | NF1 | Monotherapy

United States
Elpida Therapeutics SPC

Not yet recruiting

A Prospective Natural History and Outcome Measure Discovery Study of Charcot-Marie-Tooth Disease, Type 4J (CMT4J)

Neuromuscular Diseases | Peripheral Neuropathy | Neuro-Degenerative Disease
Azidus Brasil
Boya Bio Pharmaceutical Group Co Ltd

Not yet recruiting

Efficacy and Safety and Pharmacokinetics of Boya IVIG (Boya)

Primary Immunodeficiency Disease
Takeda

Recruiting

At-Home Subcutaneous Immunoglobulin Replacement Therapy Using Alexa Skill

Primary Immunodeficiency Diseases (PID)

United States
Assistance Publique - Hôpitaux de Paris

Not yet recruiting

Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders (DANNIgene)

Hemophilia A | Hemophilia B | Cystic Fibrosis | Sickle Cell Disease | Muscular Dystrophy, Duchenne | Fragile X Syndrome | Huntington Disease | Myotonic Dystrophy | Autosomal Recessive Polycystic Kidney Disease | Neurofibromatosis-Noonan Syndrome | Muscular Dystrophy, Becker | Invasive PreNatal Diagnosis in a... and other conditions

France
Massachusetts General Hospital
Johns Hopkins University

Recruiting

Efficacy of Skin Cooling in Reducing Pain Associated With Non-invasive Treatments of Neurofibromatosis Type 1 Cutaneous Neurofibromas

Neurofibromatosis 1

United States
Fundació Sant Joan de Déu
Hospital Universitari Vall d'Hebron Research Institute; Fundació La Marató... and other collaborators

Recruiting

Study of an Early Parenting Intervention for Children With Genetic Abnormalities and Mental Health Problems (The GAP)

Parenting | Genetic Syndrome | Language Development | Autism or Autistic Traits

Spain
Massachusetts General Hospital
Johns Hopkins University

Recruiting

Dosing and Tolerability of Deoxycholic Acid Versus Polidocanol in the Treatment of Neurofibromatosis Type 1 Cutaneous Neurofibromas

Neurofibromatosis 1

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
Novozymes A/S
Analyze & Realize

Not yet recruiting

Effect of a Combination of Lactase and L. Salivarius DSM 34078 in Individuals With Lactose Intolerance

Lactose Intolerance
University of North Carolina, Chapel Hill
United States Department of Defense

Recruiting

Regulating Together in Tuberous Sclerosis Complex (RT)

Behavioral Symptoms | TSC

United States
Memorial Sloan Kettering Cancer Center

Recruiting

A Study of Avutometinib for People With Solid Tumor Cancers

Solid Tumor | Neuroblastoma | Solid Tumor, Adult | Primary Brain Tumor | Solid Carcinoma | Low-grade Glioma | Central Nervous System Tumor | Refractory Cancer | CNS Tumor, Adult | CNS Tumors | NF1 | Plexiform Neurofibroma | CNS Tumor, Childhood | Optic Pathway Gliomas | MAP Kinase Family Gene Mutation

United States
Weill Medical College of Cornell University
National Cancer Institute (NCI)

Recruiting

Discovering New Targets for Colorectal and Endometrial Cancer Risk Reduction

Colorectal Cancer | Endometrial Cancer | Hereditary Cancer Syndromes

United States
National Human Genome Research Institute (NHGRI)

Recruiting

A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

Metabolic Disease | Purine-Pyrimidine Metabolism | AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2 | UNG, OMIM *191525, Hyper-IgM Syndrome 5 | NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency | UMPS, OMIM *613891, Orotic Aciduria | DHODH, OMIM *126064,... and other conditions

United States
Gazi University

Recruiting

Investigation of the Effects of Pulmonary Rehabilitation in Children With Primary Immunodeficiency

Primary Immunodeficiency

Turkey
Azidus Brasil
Sichuan Yuanda Shuyang Pharmaceutical Co., Ltd.

Not yet recruiting

Efficacy, Safety, and Pharmacokinetics of Shu Yang IVIG (Imunoforte)

Primary Immunodeficiency Disease
Yang Li
Ruijin Hospital

Recruiting

Arsenic Trioxide Combined With Chemotherapy for the Treatment of p53-mutated Pediatric Cancer

Pediatric Cancer | Li-Fraumeni Syndrome | p53 Mutations

China
Anagnostou, Evdokia, M.D.
The Hospital for Sick Children; Canadian Institutes of Health Research (CIHR); Alberta Health services and other collaborators

Not yet recruiting

Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders (CALM)

Anxiety Disorders | Generalized Anxiety Disorder | Anxiety | Tuberous Sclerosis | ADHD | Neurodevelopmental Disorders | Autism Spectrum Disorder | Fragile X Syndrome | Social Anxiety | Social Anxiety Disorder | Agoraphobia | Tourette Syndrome | Tic Disorders | Autism | ADHD Predominantly Inattentive Type | ADHD - Combined... and other conditions

Canada
Stanford University

Not yet recruiting

Sirolimus for Improving Social Abilities in People With PTEN Germline Mutations

PTEN Gene Mutation | PTEN Hamartoma Tumor Syndrome | PTEN Hamartoma Syndrome

United States
argenx

Recruiting

A Natural History Study in Participants With DOK7 Congenital Myasthenic Syndromes (CMS)

Congenital Myasthenic Syndrome

Spain, France, United States, Canada
Takeda
Takeda Development Center Americas, Inc.

Not yet recruiting

A Study About the Long-Term Safety of TAK-881 in People With Primary Immunodeficiency Diseases

Primary Immunodeficiency Diseases (PID)
King's College London

Recruiting

The Living With a Long-Term Condition Study (LTC)

Liver Diseases | Heart Diseases | Heart Failure | Stroke | Cerebrovascular Disorders | Epilepsy | Pain | Multiple Sclerosis | Hypertension | Obesity | Diabetes | Cancer | Arthritis | Osteoarthritis | Rheumatoid Arthritis | Parkinson Disease | Migraine | Hepatitis | Atrial Fibrillation | Asthma | Endometriosis | Dementia | Fibromyalgia | Celiac... and other conditions

United Kingdom
Bristol-Myers Squibb

Recruiting

A Post-Marketing Surveillance Study to Assess Safety of Luspatercept in Korean Patients With Myelodysplastic Syndrome or β-thalassemia

Myelodysplastic Syndrome | Beta Thalassemia

Korea, Republic of
UK Kidney Association

Recruiting

National Registry of Rare Kidney Diseases (RaDaR)

Vasculitis | AL Amyloidosis | Tuberous Sclerosis | Fabry Disease | Cystinuria | Focal Segmental Glomerulosclerosis | IgA Nephropathy | Bartter Syndrome | Pure Red Cell Aplasia | Membranous Nephropathy | Atypical Hemolytic Uremic Syndrome | Autosomal Dominant Polycystic Kidney Disease | Cystinosis | Nephronophthisis | BK Nephropathy and other conditions

United Kingdom
Oregon Health and Science University
University of Oregon; Oregon State University

Recruiting

Impact of Two Dietary Interventions on Simple Carbohydrate Intolerance

Carbohydrate Intolerance

United States
Istituto Ortopedico Rizzoli

Recruiting

Treatment of Upper Cluneal Nerve Entrapment Syndrome for Reduction of Low Back Pain

Superior Cluneal Nerve Entrapment

Italy
Sol-Gel Technologies, Ltd.
Premier Research Group plc

Recruiting

Efficacy and Safety of Patidegib Gel 2% for Preventing Basal Cell Carcinomas on the Face of Adults With Gorlin Syndrome

Gorlin Syndrome

United States
Brigham and Women's Hospital
Children's Hospital of Philadelphia; University of Michigan; University of Southern... and other collaborators

Recruiting

Oxygen Therapy in Children and Adolescents With Down Syndrome and Obstructive Sleep Apnea (DOSA)

Obstructive Sleep Apnea | Down Syndrome

United States
Rigshospitalet, Denmark

Recruiting

Polyneuropathy, Impairments and Physical Activity - The PolyImPAct Study (PolyImPAct)

Polyneuropathies | Diabetic Polyneuropathy | Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) | POEMS Syndrome | Multifocal Motor Neuropathy | Charcot-Marie-Tooth | hATTR Amyloidosis | Vasculitic Neuropathy | Idiopathic Neuropathy

Denmark
Assiut University

Not yet recruiting

Neurological and Psychological Assessment of Neurocutaneous Syndromes in Upper Egypt Children

Neurocutaneous Syndromes
Children's Health Ireland
Belfast Health and Social Care Trust; University of Edinburgh; University Hospital... and other collaborators

Recruiting

Clinical Outcomes From Treatment and Evaluation of Obstructive Sleep Apnoea in Children With Down Syndrome (REFRESHED)

Quality of Life | Obstructive Sleep Apnea | Down Syndrome | Behavior | Adherence, Treatment

United Kingdom, Ireland
Fred Hutchinson Cancer Center
National Cord Blood Network

Recruiting

Cord Blood Transplant, Cyclophosphamide, Fludarabine, and Total-Body Irradiation in Treating Patients With High-Risk Hematologic Diseases

Acute Myeloid Leukemia | Acute Lymphoblastic Leukemia | Non-Hodgkin Lymphoma | Myelodysplastic Syndrome | Hematopoietic and Lymphoid System Neoplasm | Blastic Plasmacytoid Dendritic Cell Neoplasm | Myeloproliferative Neoplasm | Acute Leukemia of Ambiguous Lineage | Mixed Phenotype Acute Leukemia | Chronic...

United States
Recursion Pharmaceuticals Inc.

Recruiting

A Study of REC-4881 in Participants With Cancers Which Have an AXIN1 or APC Mutation

Solid Tumor | APC Gene Mutation | AXIN1 Gene Mutation

United States
Shandong University

Not yet recruiting

Cold Snare Polypectomy for Small Bowel Polyps in Patients With Peutz-Jeghers Syndrome

Peutz-Jeghers Syndrome | Small Bowel Polyp

China

Search clinical trials for: genetic diseases and dysmorphic syndromes

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