Clinical Trials on Myotonia Congenita

Total 9323 results

University of New Mexico
National Institute of Neurological Disorders and Stroke (NINDS); University...

Terminated

Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of Statins

Cerebral Cavernous Malformations | Cavernous Angioma, Familial | Cerebral Cavernous Hemangioma

United States
Queen Mary University of London
University College, London

Completed

Comprehensive Assessment of Nutrition and Dietary Intervention in Hypermobile Ehlers Danlos Syndrome (CANDI-hEDS2)

Irritable Bowel Syndrome | Functional Gastrointestinal Disorders | Hypermobile Ehlers-Danlos Syndrome

United Kingdom
dr. Muhammad Abdelhafez Mahmoud, MD

Completed

Azygos Vein Preservation; Its Impact on Early Outcomes After Neonatal EA/TOF Repair (EArAzygousvp)

Leak, Anastomotic | Tracheo-Esophageal Fistula With Atresia of Esophagus | Azygos Vein Preservation Versus Disconnection | Stricture Esophagus | Pneumonitis; Postoperative

Egypt
West China Hospital

Completed

Characteristics, Treatment, and Economic Burden of Patients With CVD,CKD or at High Cardiovascular Risk

Diabetes | Chronic Kidney Diseases | Cardiovascular Abnormalities

China
Freeman-Sheldon Research Group, Inc.

Terminated

Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome (STOP-FSS)

Craniofacial Abnormalities | Arthrogryposis | 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... and other conditions

United States
Kobe University
Boehringer Ingelheim

Active, not recruiting

A Extension Study of Empagliflozin in Patients With Refractory Diabetes Mellitus With Insulin Resistance ( EMPIRE-02 ) (EMPIRE-02)

Insulin Resistance - Type A | Insulin Resistance - Type B | Lipoatrophic Diabetes Mellitus | Insulin Resistance Syndrome

Japan
Hugo W. Moser Research Institute at Kennedy Krieger...

Completed

Rapalogues for Autism Phenotype in TSC: A Feasibility Study (RAPT)

Tuberous Sclerosis Complex | Autism | Self-injury

United States
Brigham and Women's Hospital

Withdrawn

Hyaluronidase in Treating Oral Microstomia in Patients With Sclerosing Skin Disease

Morphea | Scleroderma | CREST Syndrome | Microstomia | Scleromyxedema
Indiana University

Completed

Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project.

Autosomal Dominant Hypophosphatemic Rickets

United States
University College, London
University of Iowa

Unknown

Muscle MRI in Charcot Mary Tooth Disease: a Prospective Cohort Study

Charcot-Marie-Tooth Disease, Type IA | Charcot-Marie-Tooth Disease Type 2A | Charcot-Marie-Tooth Disease, Type IB | Charcot-Marie-Tooth Disease, Type X

United Kingdom
Ascend Biopharmaceuticals Ltd

Completed

A Study of the Efficacy and Safety of ASN-002 in Adult Patients With Low-risk Nodular Basal Cell Carcinoma (ASN-002-001)

Basal Cell Nevus Syndrome | Skin Neoplasm | Nodular Basal Cell Carcinoma of Skin

Australia
Abant Izzet Baysal University
Hacettepe University

Unknown

Interrater Reliability of Infant Motor Profile (IMP)

Cerebral Palsy | Down Syndrome | Premature Infants | Spina Bifida | Metabolic Disorders | Low; Birthweight, Extremely (999 Grams or Less)
Novartis Pharmaceuticals

Completed

A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients

Treatment for Basal Cell Carcinomas (BCCs) in Gorlin Syndrome Patients

Austria, Switzerland
Children's Hospital Medical Center, Cincinnati
Novartis

Completed

Everolimus (RAD001) Therapy of Giant Cell Astrocytoma in Patients With Tuberous Sclerosis Complex

Tuberous Sclerosis | Subependymal Giant Cell Astrocytoma

United States
University of Aarhus

Completed

Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter Syndrome

Cardiovascular Disease | Diabetes | Metabolic Syndrome | Osteoporosis | Klinefelter Syndrome

Denmark
Sanguine Biosciences

Completed

At-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions

Depression | Melanoma | Epilepsy | Lymphoma | Multiple Sclerosis | Kidney Cancer | Cervical Cancer | Diabetes Mellitus | Leukemia | Breast Cancer | Chronic Kidney Diseases | Chronic Obstructive Pulmonary Disease | Parkinson's Disease | Systemic Lupus Erythematosus | Multiple Myeloma | Hepatitis B | Insomnia | Colorectal Cancer | HIV/AID... and other conditions

United States
University Hospital, Ghent
Groupe SEBBIN

Recruiting

Prospective Observational Study on SEBBIN Silicone Gel-filled Testicular Implants

Gender Dysphoria | Orchitis | Testicular Cancer | Prosthesis Durability | Testicular Torsion | Undescended Testes | Testicular Agenesis | Testicular Atrophy

Belgium
Eunice Kennedy Shriver National Institute of Child...

Recruiting

Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity

Androgen Insensitivity Syndrome | Metabolic Parameters in AIS, CAIS, PAIS and MAIS | Tumor Formation in AIS, CAIS, PAIS and MAIS | Sexual Function AIS, CAIS, PAIS and MAIS

United States
National Cancer Institute (NCI)

Recruiting

Natural History and Management of Von Hippel-Lindau (VHL) Associated Pancreatic Neuroendocrine Tumors

Neuroendocrine Tumors | Von Hippel-Lindau Disease | VHL Pancreatic Neuroendocrine Tumors

United States
Imperial College London

Recruiting

Multiple Breath Washout, a Clinimetric Dataset

Bronchiectasis | Sleep Disorder | Asthma | Cystic Fibrosis | Bronchitis | Primary Ciliary Dyskinesia

United Kingdom
M.D. Anderson Cancer Center
National Cancer Institute (NCI)

Active, not recruiting

Sintilimab for the Treatment of Locally Advanced, Metastatic, Recurrent, or Unresectable Undifferentiated Pleomorphic Sarcoma, SiARa Cancer Study

Metastatic Undifferentiated Pleomorphic Sarcoma | Recurrent Undifferentiated Pleomorphic Sarcoma | Locally Advanced Undifferentiated Pleomorphic Sarcoma | Unresectable Undifferentiated Pleomorphic Sarcoma

United States
Soutien aux Actions contre les Maladies du Globule...
Novartis

Completed

"Association of Proteinuria and Progression of Kidney Dysfunction in Sickle Cell Disease"Disease (CSEG101A0FR01)

Change in Albumin to Creatinine Ratio and Glomerular Filtration Rate | Progression of Kidney Failure and or All-cause Mortality

France
Rhythm Pharmaceuticals, Inc.

Completed

Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Participants With Moderate to Severe Obesity

Bardet Biedl Syndrome (BBS) | Alström Syndrome (AS)

United States, United Kingdom, France, Canada, Puerto Rico, Spain
Children's Oncology Group
National Cancer Institute (NCI)

Completed

Combination Chemotherapy in Treating Younger Patients With Newly Diagnosed, Non-metastatic Desmoplastic Medulloblastoma

Medulloblastoma | Nevoid Basal Cell Carcinoma Syndrome | Desmoplastic/Nodular Medulloblastoma | Medulloblastoma With Extensive Nodularity

United States, Canada, Puerto Rico, Australia
InCor Heart Institute
Novartis

Completed

Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma

Tuberous Sclerosis | Angiomyolipoma | Lymphangioleiomyomatosis

Brazil
Neurogene Inc.

Terminated

A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J) (CMT4J)

Charcot-Marie-Tooth Disease | Hereditary Motor and Sensory Neuropathy IV

United States
Physio-Assist
University Hospital, Marseille; CEISO

Terminated

Evaluation of the Safety of the Medical Device Simeox® (SIMETOL)

Cystic Fibrosis | Chronic Bronchitis | Chronic Obstructive Airway Disease | Broncho-degenerative Disease | Idiopathic Bronchiectasis | Ciliary Dyskinesia

France
Eunice Kennedy Shriver National Institute of Child...

Terminated

The Natural History of Reproductive and Overall Health in Girls and Women With a Pre-Mutation in the FMR1 Gene; Creation of a Patient Registry

Fragile X Syndrome | Premature Ovarian Failure | Premature Menopause | FMR1 Premutation | Primary Ovairan Insufficiency

United States
Children's Hospital Medical Center, Cincinnati

Unknown

Safety and Efficacy Study of Sirolimus in Complicated Vascular Anomalies

Tufted Angioma | Microcystic Lymphatic Malformation | Kaposiform Hemangioendotheliomas | Capillary Venous Lymphatic Malformation | Venous Lymphatic Malformation | Mucocutaneous Lymphangiomatosis and Thrombocytopenia | Capillary Lymphatic Arterial Venous Malformations | PTEN Overgrowth Syndrome With... and other conditions

United States
Children's Hospital Medical Center, Cincinnati
Novartis Pharmaceuticals

Completed

RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM

Tuberous Sclerosis | Lymphangioleiomyomatosis

United States
University Hospital, Angers

Unknown

Arterial Wall Calcium Load in Pseudoxanthoma Elasticum (Ca-Art-PXE2)

Type 2 Diabetes | Chronic Kidney Disease | Pseudoxanthoma Elasticum

France
University of Kansas

Completed

A Randomized Exercise Trial for Wheelchair Users

Stroke | Multiple Sclerosis | Cerebral Palsy | Arthritis | Muscular Dystrophy | Amputation | Spinal Cord Injury | Spina Bifida

United States
Triemli Hospital

Completed

A Cohort Study of Patients Treated With Brachytherapy for Selected Desmoid Patients in Gardner Syndrome

Colorectal Carcinoma | Desmoid Tumor | Gardner Syndrome
Skane University Hospital

Completed

Nerve Entrapment in Diabetic Patients

Diabetes Complications | Carpal Tunnel Syndrome | Nerve Compression Syndromes | Entrapment Neuropathies

Sweden
National Institute of Neurological Disorders and...

Completed

Nuclear Magnetic Spectroscopy Imaging to Evaluate Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis | Primary Lateral Sclerosis | Hereditary Spastic Paraplegia

United States
Children's Hospital Medical Center, Cincinnati
The LAM Foundation; Tuberous Sclerosis Alliance

Completed

Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM

Tuberous Sclerosis | Lymphangioleiomyomatosis

United States
IRCCS Ospedale San Raffaele

Not yet recruiting

Validation of Human Drugs Target of Repurposed Drugs and Novel Therapies

Rare Diseases | Corneal Neovascularization | Limbal Stem Cell Deficiency | Aniridia | Neurotrophic Keratopathy | Ocular Cicatricial Pemphigoid | Ocular Graft-versus-host Disease | EEC Syndrome
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
Murdoch Childrens Research Institute
Royal Children's Hospital; Peter MacCallum Cancer Centre, Australia

Not yet recruiting

A Trial of Targeted Therapies for Patients With Slow-Flow or Fast-Flow Vascular Malformations (TARGET-VM)

Arteriovenous Malformations | Vascular Malformations | MAP2K1 Gene Mutation | PIK3CA-related Overgrowth Spectrum | Vascular Anomalies | Lymphangioma | Lymphatic Malformation | KRAS G12D | Venous Malformation | Vascular Anomaly | KRAS G12C | PI3K Gene Mutation | Slow-Flow Vascular Malformation | Fast-Flow Vascular... and other conditions

Australia
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
Imperial College London

Recruiting

Advanced Ultrasound Applications for Predicting AVF Outcomes (AUAPAVFO)

Chronic Kidney Diseases | Renal Failure | End Stage Renal Diseases

United Kingdom
Milton S. Hershey Medical Center
National Center for Complementary and Integrative Health (NCCIH)

Recruiting

Inositol Supplementation to Treat PCOS (INSUPP-PCOS) (INSUPP-PCOS)

Polycystic Ovary Syndrome | Hyperandrogenism | Insulin Resistance | Glucose Intolerance | Anovulation | Metabolic Complication

United States
National Cancer Institute (NCI)

Active, not recruiting

Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy

Skin Neoplasms | Xeroderma Pigmentosum | Cockayne Syndrome | Trichothiodystrophy Syndromes | Genodermatosis

United States
Kyowa Kirin, Inc.

Completed

Study of Burosumab (KRN23) in Adults With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS)

Tumor Induced Osteomalacia (TIO) | Epidermal Nevus Syndrome (ENS)

United States
University of Chicago
Johns Hopkins University; Mayo Clinic; National Institute of Neurological Disorders... and other collaborators

Completed

CASH (Cavernous Angiomas With Symptomatic Hemorrhage) Trial Readiness

Cerebral Cavernous Malformation | Cavernous Angioma | Cavernoma | CCM | Cerebral Cavernous Malformations 1 | Cerebral Cavernous Malformations 2 | Cerebral Cavernous Malformations 3

United States
Genetic Disease Investigators

Completed

Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia Later in Life

Venous Insufficiency | Postural Orthostatic Tachycardia Syndrome | Dysautonomia | Ehlers Danlos Syndrome | External Hydrocephalus

United States
McMaster University
Harvard Medical School (HMS and HSDM); The Hospital for Sick Children; Canadian... and other collaborators

Terminated

READYorNot[TM] Brain-Based Disabilities Trial

Epilepsy | Cerebral Palsy | Autism Spectrum Disorder | Spina Bifida | Fetal Alcohol Spectrum Disorders

Canada
Westlake University
Beijing Obstetrics and Gynecology Hospital

Completed

B-vitamin Levels and Adverse Pregnancy Outcomes

Pregnancy Complications | Preterm Birth | Gestational Diabetes | Pregnancy Loss | Recurrent Pregnancy Loss | Birth Defect | Gestational Hypertension | Pregnancy Induced Hypertension | Health Problems in Pregnancy

China
Taipei Medical University Shuang Ho Hospital
University of Southern California

Enrolling by invitation

Atorvastatin and Alkali Therapy in Patients With Autosomal Dominant Polycystic Kidney Disease

Chronic Kidney Diseases | Autosomal Dominant Polycystic Kidney Disease

Taiwan
Kyowa Kirin Co., Ltd.

Completed

A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome

Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome

Japan, Korea, Republic of

Clinical Trials on Myotonia Congenita

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CROs in Kazakhstan

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