Clinical Trials on Dyskeratosis Congenita

Total 8890 results

Sklifosovsky Institute of Emergency Care

Recruiting

Sonography-guided Resection of Brain Mass Lesions (SOMALI)

Arteriovenous Malformations | Tumor, Brain | Cavernoma | Intracerebral Hematoma

Russian Federation
University Health Network, Toronto

Recruiting

Dyspnea in Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder

Hypermobile EDS (hEDS) | Hypermobility Syndrome

Canada
Trent Stellingwerff
University of British Columbia; Mitacs

Recruiting

Relative Energy Deficiency in Sport Multicenter Study

Nutrition Disorders | Health, Subjective | Cardiovascular Abnormalities | Bone Loss | Athletic Injuries | Mental Health Wellness 1 | Eating Disorders | Hormone Disturbance | Sleep Hygiene | Weight Change, Body | Bone Fracture | Exercise-related Amenorrhea

Canada
University of Colorado, Denver
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Recruiting

Tofacitinib for Immune Skin Conditions in Down Syndrome

Psoriasis | Down Syndrome | Vitiligo | Hidradenitis Suppurativa | Alopecia Areata | Atopic Dermatitis / Eczema

United States
The University of Texas Health Science Center,...

Recruiting

The Will Erwin Headache Research Center - Cluster Headache Study (WEC1)

Cluster Headache | Trigeminal Neuralgia | Hemicrania Continua | Paroxysmal Hemicrania | SUNCT | Cluster Headaches and Other Trigeminal Autonomic Cephalgias

United States
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
University of Virginia

Recruiting

Effect of Metformin on Adrenal or Ovarian Androgen Production in Overweight Pubertal Girls With Androgen Excess

Obesity | Polycystic Ovary Syndrome | Hyperandrogenemia

United States
Methodist Health System

Enrolling by invitation

Outpatient Office Based Endovascular Procedures

Peripheral Arterial Disease | Varicose Veins | Chronic Venous Insufficiency | Dialysis Access Malfunction | Thoracic Outlet Syndrome | Arterio-venous Fistula | Vertebral Artery Insufficiency

United States
Medtronic Endovascular

Active, not recruiting

Ellipsys Vascular Access System Post Market Surveillance (PS) Study

AV Fistula | Fistulas Arteriovenous | Renal Disease, End Stage | Kidney Disease, End-Stage

United States
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
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
Holland Bloorview Kids Rehabilitation Hospital
The Hospital for Sick Children; University of Toronto; University of Ottawa; Social... and other collaborators

Completed

A Peer E-mentoring Intervention to Improve Employment

Cerebral Palsy | Muscular Dystrophy | Physical Disability | Spinal Cord Injury | Spina Bifida | Juvenile Arthritis

Canada
University Hospital, Montpellier
Agence de La Biomédecine

Active, not recruiting

NIPD on cffDNA for Triplet Repeat Diseases

Fragile X Syndrome | Huntington Disease | Myotonic Dystrophy 1

France
Hacettepe University

Unknown

Turkish Version of The Measure of Processes of Care (MPOC)

Cerebral Palsy | Muscular Dystrophies | Traumatic Brain Injury | Autism Spectrum Disorder | Down Syndrome | Disability Physical | Disability, Developmental
Bispebjerg Hospital
The Danish Council for Strategic Research

Completed

D-tecting Disease - From Exposure to Vitamin D During Critical Periods of Life (D-tect)

Obesity | Diabetes Mellitus | Cancer | Arthritis | Vitamin D Deficiency | Asthma | Pregnancy Complications | Tooth Diseases | Birth Weight | Pre-Eclampsia | Mental Disorder | Congenital Disorders | Bone Fracture | Birth Disorder

Denmark
National Institute of Neurological Disorders and...

Completed

Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac Tumors

Neoplasms | Kidney Neoplasms | Kidney Diseases | Retinal Diseases | Deafness

United States
National Cancer Institute (NCI)

Completed

The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive Diseases

Psoriasis | Basal Cell Carcinoma | Keratosis Palmaris et Plantaris

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

Clinical Trials on Dyskeratosis Congenita

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Madagascar

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations