Clinical Trials on Congenital Contractural Arachnodactyly

Total 8979 results

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
ANRS, Emerging Infectious Diseases
University Hospital, Geneva; University of Bordeaux; International Agency for... and other collaborators

Recruiting

Evaluation of Triage Options After HPV Testing for Cervical Cancer Screening Among HIV-infected Women (AIMA-CC)

HIV Infections | HPV - Anogenital Human Papilloma Virus Infection

Burkina Faso, Cambodia, Côte D'Ivoire
New York Medical College

Completed

Human Placental-Derived Stem Cell Transplantation (HPDSC)

Mucopolysaccharidosis I | Myelodysplastic Syndrome | Acute Lymphocytic Leukemia | Acute Myelogenous Leukemia | Niemann-Pick Disease | Mucopolysaccharidosis VI | Wolman Disease | Adrenoleukodystrophy | Batten Disease | Metachromatic Leukodystrophy | Diamond-Blackfan Anemia | Severe Aplastic Anemia | Fucosidosis | Gaucher... and other conditions

United States
University College Cork

Not yet recruiting

Assessment of Diastolic Function During the Transitional Period and Infancy Using Serial Echocardiography (DiFuSE)

Gestational Diabetes | Neonatal Encephalopathy | Diastolic Dysfunction | Trisomy 21 | Transient Tachypnea of the Newborn | Small for Gestational Age at Delivery

Ireland
UNC Lineberger Comprehensive Cancer Center

Recruiting

Registry for Adults With Plasma Cell Disorders (PCD's)

Multiple Myeloma | Amyloidosis | Smoldering Multiple Myeloma | Plasma Cell Leukemia | Cryoglobulinemia | Light Chain Deposition Disease | Castleman's Disease | Heavy Chain Deposition Disease | Polyneuropathy Organomegaly Endocrinopathy Monoclonal Gammopathy and Skin Changes

United States
University of Colorado, Denver

Recruiting

Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)

Hearing Loss | Smith-Lemli-Opitz Syndrome | Cone-Rod Dystrophy

United States
Brigham and Women's Hospital
Oregon Health and Science University; Vanderbilt University; Geisinger Clinic

Completed

Improving Quality by Maintaining Accurate Problems in the EHR (IQ-MAPLE)

Myocardial Infarction | Coronary Artery Disease | Smoking | Stroke | Hypertension | Chronic Obstructive Pulmonary Disease | Atrial Fibrillation | Asthma | Tuberculosis | Sleep Apnea | Sickle Cell Disease | Hyperlipidemia | Congestive Heart Failure

United States
Massachusetts General Hospital

Completed

Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

Fabry Disease | Mitochondrial Disease | Small Fiber Neuropathy | Ehlers Danlos Syndrome

United States
Hadassah Medical Organization

Unknown

Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy

Diabetes Mellitus | Iron Metabolism Disorders | Optic Atrophy | Sensorineural Hearing Loss | Platelet Dysfunction | Gastroduodenal Ulcer

Israel
Manhattan Eye, Ear & Throat Hospital
Genentech, Inc.

Completed

Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy (FVF4140S)

Polypoidal Choroidal Vasculopathy | Pseudoxanthoma Elasticum | Pathological Myopia | Retinal Angiomatous Proliferation | Coats' Disease | Idiopathic Retinal Telangiectasia | Multi-focal Choroiditis | Rubeosis Iridis | Von Hippel Lindau Disease | BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL (Disorder)

United States
Atara Biotherapeutics

Recruiting

A Study to Evaluate Tabelecleucel in Participants With Epstein-barr Virus-associated Diseases

Lymphoproliferative Disorders | Leiomyosarcoma | Stem Cell Transplant Complications | Solid Organ Transplant Complications | Epstein-Barr Virus (EBV)-Associated Diseases | EBV+ Post-transplant Lymphoproliferative Disease (EBV+ PTLD) | Allogeneic Hematopoietic Cell Transplant | EBV+ Sarcomas | EBV+ Lymphoproliferative... and other conditions

United States, Austria, Belgium, France, Italy, Spain, United Kingdom
University of Miami
National Institute of Neurological Disorders and Stroke (NINDS); St. Jude Children... and other collaborators

Enrolling by invitation

Phenotype, Genotype & Biomarkers in ALS and Related Disorders

Amyotrophic Lateral Sclerosis | Primary Lateral Sclerosis | Frontotemporal Dementia | Progressive Muscular Atrophy | Hereditary Spastic Paraplegia | Multisystem Proteinopathy

United States, South Africa, Germany
Washington University School of Medicine
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National...

Completed

A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome

Diabetes Mellitus | Ataxia | Wolfram Syndrome | Optic Nerve Atrophy

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
Mayo Clinic

Recruiting

Pre-myeloid Cancer and Bone Marrow Failure Clinic Study

Hematologic Neoplasms | Myeloid Malignancy | Cytopenia | Bone Marrow Failure Syndrome | Clonal Cytopenia of Undetermined Significance | Clonal Hematopoiesis of Indeterminate Potential | Low Risk Myelodysplastic Syndrome | Inherited Bone Marrow Failure Syndrome | Clonal Expansion | Hereditary Neoplastic... and other conditions

United States
Jesse Nodora
National Cancer Institute (NCI)

Terminated

COVID-19 Testing in Underserved and Vulnerable Populations

Coronary Artery Disease | Heart Failure | Obesity | Diabetes Mellitus, Type 2 | Cancer | Chronic Kidney Diseases | Sickle Cell Disease | COPD

United States
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
Global Healthy Living Foundation
University of Alabama at Birmingham

Recruiting

PatientSpot Formerly Known as ArthritisPower (GHLF)

Heart Failure | Stroke | Epilepsy | Multiple Sclerosis | Obesity | Diabetes | Chronic Obstructive Pulmonary Disease | Osteoarthritis | Rheumatoid Arthritis | Parkinson Disease | Peripheral Arterial Disease | Inflammatory Bowel Diseases | Amyotrophic Lateral Sclerosis | Psoriasis | Asthma | Muscular Dystrophy | Fibromyalgia | Alzheimer... and other conditions

United States
Inozyme Pharma

Not yet recruiting

Natural History Study of ENPP1 Deficiency and and the Early-onset Form of ABCC6 Deficiency

Generalized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets | Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency | ATP-Binding Cassette Subfamily C Member 6 Deficiency
Boston Children's Hospital
Lymphatic Malformation Institute

Recruiting

Lymphatic Anomalies Registry for the Assessment of Outcome Data

Lymphangiomatosis | Kaposiform Lymphangiomatosis | Lymphatic Malformation | Generalized Lymphatic Anomaly (GLA) | Central Conducting Lymphatic Anomaly | CLOVES Syndrome | Gorham-Stout Disease ("Disappearing Bone Disease") | Blue Rubber Bleb Nevus Syndrome | Kaposiform Hemangioendothelioma/Tufted Angioma and other conditions

United States
University of California, Los Angeles
Université de Montréal

Withdrawn

Use of a Tonometer to Identify Epileptogenic Lesions During Pediatric Epilepsy Surgery

Stroke | Epilepsy | Tuberous Sclerosis | Sturge-Weber Syndrome | Focal Cortical Dysplasia | Hemimegalencephaly | Polymicrogyria | Rasmussen Encephalitis | Gliosis | Tumor, Brain

United States, Canada
University of Milano Bicocca
Comitato Maria Letizia Verga,Italy

Recruiting

Precision Exercise in Children With Malignant Hemopathies (SportTherapy)

Lymphoma, Non-Hodgkin | Leukemia, Myeloid, Acute | Leukemia, B-cell | Adrenoleukodystrophy | Lymphoma, Hodgkin | Thalassemia Major | Leukemia, T Cell | Drepanocytosis

Italy
Eunice Kennedy Shriver National Institute of Child...

Completed

Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex

Pituitary Adenoma | Cushing's Syndrome | Carney Complex | Primary Pigmented Nodular Adrenocortical Disease | Peutz-Jeghers Syndrome

United States
University of Cincinnati
Children's Hospital Medical Center, Cincinnati

Terminated

Study of Bile Acids in Patients With Peroxisomal Disorders

Adrenoleukodystrophy | Zellweger Syndrome | Infantile Refsum's Disease | Bifunctional Enzyme Deficiency
Nemours Children's Clinic
Potentials Foundation; Walking with Giants Foundation

Recruiting

Primordial Dwarfism Registry

MOPDII | RNU4atac-opathy (e.g. MOPDI/III, Lowry-Wood Syndrome, Roifman Syndrome) | Meier-Gorlin Syndrome | Saul-Wilson Syndrome | Ligase 4 Syndrome | Microcephalic Primordial Dwarfism

United States
RFM Renal Treatment Services

Unknown

Serum Sclerostin Levels, Cardiovascular Parameters and Carpal Tunnel Syndrome in Maintenance Hemodialysis Patients

Chronic Kidney Disease | Left Ventricular Hypertrophy | Renal Osteodystrophy

Turkey
Children's Hospital of Philadelphia
Illumina, Inc.

Active, not recruiting

LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies

Mucopolysaccharidoses | Leukodystrophy | Adrenoleukodystrophy | Adrenomyeloneuropathy | X-linked Adrenoleukodystrophy | Gangliosidoses | Metachromatic Leukodystrophy | Krabbe Disease | Refsum Disease | Cadasil | Sjogren-Larsson Syndrome | Allan-Herndon-Dudley Syndrome | White Matter Disease | GM2 Gangliosidosis | Zellweger... and other conditions

United States
Advice Pharma Group srl

Recruiting

KidneYou - Innovative Digital Therapy

Diabetes | Chronic Kidney Diseases | Tuberous Sclerosis | Albuminuria | Treatment Adherence | Arterial Hypertension | Treatment Adherence and Compliance | Nephronophthisis | Polycystic Kidney | Chronic Glomerulonephritis | Cystic Kidney Diseases | Cortical Cystic Disease | Cystic Diseases

Italy
National Heart, Lung, and Blood Institute (NHLBI)

Completed

Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease

Cystic Fibrosis | Chronic Granulomatous Disease | Primary Ciliary Dyskinesia | Pseudohypoaldosteronism | Nontuberculous Mycobacterial Infection

United States
ResMed
Clinical Trial Center North Hamburg Germany; CRI-The Clinical Research Institute...

Terminated

European Home Mechanical Ventilation Registry (EHMVR)

Pulmonary Disease, Chronic Obstructive | Amyotrophic Lateral Sclerosis | Muscular Dystrophies | Duchenne Muscular Dystrophy | Myotonic Dystrophy | Spinal Cord Injury | Obesity Hypoventilation Syndrome | Kyphoscoliosis | Congenital Central Hypoventilation Syndrome | Myopathies

Germany
Children's Hospital of Philadelphia
Eli Lilly and Company; University of Pennsylvania; Takeda; National Institute of... and other collaborators

Recruiting

The Myelin Disorders Biorepository Project (MDBP)

Mucopolysaccharidoses | Leukoencephalopathies | Leukodystrophy | Adrenoleukodystrophy | Adrenomyeloneuropathy | X-linked Adrenoleukodystrophy | Gangliosidoses | Metachromatic Leukodystrophy | Krabbe Disease | Refsum Disease | Cadasil | Sjogren-Larsson Syndrome | Allan-Herndon-Dudley Syndrome | White Matter Disease | GM2... and other conditions

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

Recruiting

Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls

Niemann-Pick Disease Type C1 | Juvenile Neuronal Ceroid Lipofuscinosis | Smith-Lemli-Opitz Syndrome | Creatine Transporter Deficiency

United States
Peking University First Hospital

Recruiting

A Cohort Study of Plasma Cell Disorders (PCDs) in PKUFH

Multiple Myeloma | Amyloidosis | Smoldering Multiple Myeloma | Plasma Cell Leukemia | Cryoglobulinemia | Light Chain Deposition Disease | Castleman's Disease | Heavy Chain Deposition Disease | Polyneuropathy Organomegaly Endocrinopathy Monoclonal Gammopathy and Skin Changes | Monoclonal Gammopathy of Undetermined... and other conditions

China
Ohio State University

Recruiting

Long-Term Longitudinal QoL in Patients Undergoing EEA

Chondrosarcoma | Chordoma | Meningioma | Craniopharyngioma | Encephalocele | Esthesioneuroblastoma | Pituitary Tumor | Rathke Cleft Cysts

United States
Duke University
National Institute of Nursing Research (NINR); National Institutes of Health...

Active, not recruiting

Peer i-Coaching for Activated Self-Management Optimization in Adolescents and Young Adults With Chronic Conditions (PiCASO)

Chronic Kidney Diseases | Diabetes Mellitus, Type 1 | Systemic Lupus Erythematosus | Inflammatory Bowel Diseases | Cystic Fibrosis | Sickle Cell Disease | Stem Cell Transplant | Childhood Cancer | Organ Transplant

United States
CENTOGENE GmbH Rostock

Terminated

Biomarkers for Tuberous Sclerosis Complex (BioTuScCom) (TuScCom)

Lymphangioleiomyomatosis | Subependymal Giant Cell Astrocytoma | Facial Angiofibroma | Cortical Dysplasia | Renal Angiomyolipoma | Hypomelanotic Macules | Shagreen Patches | Ungual Fibromas | Cardiac Rhabdomyoma

Sri Lanka, Albania, Romania, Egypt, Pakistan, Georgia, India, Lithuania
RenJi Hospital
Peking University First Hospital; Shanghai Zhongshan Hospital; First Affiliated... and other collaborators

Recruiting

Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes

Kidney Cancer | Renal Cell Carcinoma | ALK Gene Mutation | MET Gene Mutation | HLRCC | Renal Tumor Histology | Cutaneous Leiomyoma | BAP1 Tumor Predisposition Syndrome | VHL Syndrome | Birt-Hogg-Dube Syndrome | Familial Renal Cancer | FLCN Gene Mutation | FH Gene Mutation | Cutaneous Leiomyomata With Uterine Leiomyomata

China
National Taiwan University Hospital

Recruiting

Taiwan Associated Genetic and Nongenetic Small Vessel Disease (TAG-SVD)

Stroke | Magnetic Resonance Imaging | Fabry Disease | Cerebral Small Vessel Diseases | Cadasil | HTRA1-Related Autosomal Dominant Cerebral Angiopathy | COL4A1-Related Brain Small Vessel Disease With Haemorrhage | Next-generation Sequencing

Taiwan
McGill University Health Centre/Research Institute...

Recruiting

Monogenic Diabetes Misdiagnosed as Type 1 (ADDAM)

Diabetes Mellitus, Type 1 | Wolfram Syndrome | Neonatal Diabetes | Monogenic Diabetes | Maturity-onset Diabetes in the Young (MODY) | Wolcott-Rallison Syndrome | Mitochondrial Diabetes

Canada
Mirum Pharmaceuticals, Inc.
Children's Hospital Medical Center, Cincinnati

Completed

Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid

Cholestasis | Peroxisomal Disorders | Adrenoleukodystrophy | Zellweger Syndrome | Infantile Refsum's Disease

United States
Lviv National Medical University

Recruiting

Bilateral Bi-level Erector Spine Plane Block as a Component of General Anesthesia in Surgical Correction of Spinal Deformations (BBESPB)

Nutrition Disorders | Chronic Pain | Postoperative Pain | Anesthesia, Local | Postoperative Cognitive Dysfunction | Scoliosis | Coagulation Disorder | Acute Pain | Neuropathic Pain | Anesthesia | Postoperative Nausea and Vomiting | Ventilator-Induced Lung Injury | Intraoperative Complications | Hyperalgesia | Regional... and other conditions

Ukraine
Center for International Blood and Marrow Transplant...
National Marrow Donor Program

Recruiting

A Multicenter Access and Distribution Protocol for Unlicensed Cryopreserved Cord Blood Units (CBUs)

Autoimmune Diseases | Hodgkin Lymphoma | Hematologic Malignancies | Acute Lymphoblastic Leukemia (ALL) | Non-hodgkin Lymphoma | Severe Aplastic Anemia | Inherited Disorders of Metabolism | Inherited Abnormalities of Platelets | Histiocytic Disorders | Acute Myelogenous Leukemia (AML or ANLL) | Other Acute... and other conditions

United States
Maastricht University Medical Center

Enrolling by invitation

Reproductive Options in Inherited Skin Diseases (REPRO-ISD)

Tuberous Sclerosis | Basal Cell Nevus Syndrome | Cutis Laxa | Epidermolysis Bullosa | Ichthyosis | Ectodermal Dysplasia | Albinism | Xeroderma Pigmentosum | Birt-Hogg-Dube Syndrome | Palmoplantar Keratoses

Netherlands
Mayo Clinic

Completed

Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity

Multiple Sclerosis | Rheumatoid Arthritis | Systemic Lupus Erythematosus | Uveitis | Vasculitis | Psoriasis | Graves Disease | Systemic Sclerosis | Celiac Disease | Crohn Disease | Type 1 Diabetes Mellitus | Myasthenia Gravis | Ulcerative Colitis | Dermatomyositis | Polymyositis | Vitiligo | Hepatitis, Autoimmune | Polymyalgia... and other conditions

United States
Maastricht University Medical Center

Recruiting

Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling

Quality of Life | Tuberous Sclerosis | Basal Cell Nevus Syndrome | Cutis Laxa | Epidermolysis Bullosa | Ichthyosis | Ectodermal Dysplasia | Albinism | Birt-Hogg-Dube Syndrome | Palmoplantar Keratoses

Netherlands

Clinical Trials on Congenital Contractural Arachnodactyly

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Myanmar

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations