Clinical Trials on Ullrich Congenital Muscular Dystrophy

Total 2155 results

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
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
University of Zurich
University Children's Hospital, Zurich; Ehlers-Danlos Network, Switzerland

Completed

Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome

Obstructive Sleep Apnea | Ehler's Danlos Syndrome

Switzerland
University of Zurich
University Children's Hospital, Zurich; Ehlers-Danlos Network, Switzerland

Completed

Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome (OSA in EDS)

Obstructive Sleep Apnea | Ehlers-Danlos Syndrome

Switzerland
St. Jude Children's Research Hospital
Wallace H. Coulter Foundation

Recruiting

Identifying the Determinants of Bleeding and Hypermobility in Patients With Heavy Menstrual Bleeding

Hypermobile Ehlers-Danlos Syndrome | Heavy Menstrual Bleeding | Hypermobility Syndrome (Disorder)

United States
Medical College of Wisconsin
University College, London; Indiana University

Recruiting

Auricular Vagal Nerve Stimulation for Hypermobile Ehlers-Danlos Syndrome

Functional Gastrointestinal Disorders | Postural Orthostatic Tachycardia Syndrome | Hypermobile Ehlers-Danlos Syndrome | Autonomic Nervous System Disease | Autonomic Nervous System Imbalance

United States
RWTH Aachen University
DLR German Aerospace Center

Recruiting

Autonomic Small Fiber Neuropathy and Ehlers Danlos Syndromes - Prospective Study and Registry (ProANS)

Postural Tachycardia Syndrome | Autonomic Neuropathy | Small Fiber Neuropathy | Ehlers-Danlos Syndrome Hypermobility Type

Germany
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
Children's Hospital Los Angeles

Completed

Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells

Granuloma | Anemia | Thrombocytopenia | Neutropenia | Sickle Cell Disease | Thalassemia | Niemann-Pick Disease | Wiskott-Aldrich Syndrome | Osteopetrosis | Fucosidosis | Chediak Higashi Syndrome | Hurler Disease

United States
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
Jakub Antczak

Completed

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

Adrenomyeloneuropathy | Hereditary Spastic Paraplegia

Poland
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
Klinikum Oldenburg gGmbH
Deutsche Gesellschaft für Kinderendokrinologie und Diabetologie (DGKED); Deutsche... and other collaborators

Recruiting

Multicenter Registry for Patients With Childhood.Onset Craniopharyngioma, Xanthogranuloma, Cysts of Rathke's Pouch, Meningioma, Pituitary Adenoma, Arachnoid Cysts

Obesity | Craniopharyngioma

Germany
National Cancer Institute (NCI)

Recruiting

Von Hippel-Lindau (VHL): Clinical Manifestations, Diagnosis, Management and Molecular Bases of Inherited Renal and Other Urologic Malignant Disorders

Kidney Cancer | Renal Cell Carcinoma | Urologic Malignant Disorders | Familial Renal Cancer (FRC) | Clear Cell Renal Cancer

United States
National Institutes of Health Clinical Center (CC)

Enrolling by invitation

Use of Tracking Devices to Locate Abnormalities During Invasive Procedures

Adenocarcinoma | Renal Cell Carcinoma | Prostate Cancer | Prostate Neoplasms | Von Hippel Lindau Disease

United States
Centre Hospitalier Universitaire de Liege
Sanofi; Takeda; University of Liege; Orchard Therapeutics; Centre Hospitalier Régional... and other collaborators

Recruiting

Baby Detect : Genomic Newborn Screening

Congenital Adrenal Hyperplasia | Hemophilia A | Hemophilia B | Mucopolysaccharidosis I | Mucopolysaccharidosis II | Cystic Fibrosis | Alpha 1-Antitrypsin Deficiency | Sickle Cell Disease | Fanconi Anemia | Chronic Granulomatous Disease | Wilson Disease | Severe Congenital Neutropenia | Ornithine Transcarbamylase... and other conditions

Belgium
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
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
American Thrombosis and Hemostasis Network
Sanofi; Pfizer; Genentech, Inc.; CSL Behring; Hemophilia of Georgia, Inc.; Hemab Therapeutics

Recruiting

ATHN Transcends: A Natural History Study of Non-Neoplastic Hematologic Disorders

Hemophilia | Thrombosis | Thrombophilia | Sickle Cell Disease | Thalassemia | Bleeding Disorder | Von Willebrand Diseases | Factor IX Deficiency | Connective Tissue Disorder | Factor VIII Deficiency | Hematologic Disorder | Rare Bleeding Disorder | Platelet Disorder

United States
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
Tongji Hospital
Nanjing IASO Biotechnology Co., Ltd.

Recruiting

Safety and Efficacy of CT103A Cells for Relapsed/Refractory Antibody-associated Inflammatory Diseases of the Nervous System (CARTinNS)

Multiple Sclerosis | Autoimmune Diseases of the Nervous System | Autoimmune Diseases | Myasthenia Gravis | Neuromyelitis Optica Spectrum Disorder | Autoimmune Encephalitis | Idiopathic Inflammatory Myopathies | Chronic Inflammatory Demyelinating Polyradiculoneuropathy | Myelin Oligodendrocyte Glycoprotein... and other conditions

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
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
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
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
Istanbul University - Cerrahpasa (IUC)

Not yet recruiting

A New Approach in Intensive Care Unit Consciousness Assessment: FIVE Score

Unconsciousness | Traumatic Brain Injury | Subarachnoid Hemorrhage | Coma | Infratentorial Neoplasms | Epilepsy, Temporal Lobe | Assessment, Self | Intensive Care Neurological Disorder | Arnold Chiari Malformation | Cerebrovascular Event | Postoperative Intracranial Hematoma | Postoperative Intracranial Haemorrhage and other conditions

Turkey
Peloton Therapeutics, Inc., a subsidiary of Merck...
National Institutes of Health (NIH)

Completed

PT2385 for the Treatment of Von Hippel-Lindau Disease-Associated Clear Cell Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma | Von Hippel-Lindau Disease | Clear Cell RCC | ccRCC | VHL Gene Mutation | VHL Syndrome | VHL Gene Inactivation | VHL | Von Hippel | Von Hippel's Disease | Von Hippel-Lindau Syndrome, Modifiers of

United States
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
St. Jude Children's Research Hospital

Recruiting

Familial Investigations of Childhood Cancer Predisposition (SJFAMILY)

Pancreatic Cancer | Hodgkin Lymphoma | Lynch Syndrome | Tuberous Sclerosis | Fanconi Anemia | AML | Non Hodgkin Lymphoma | Familial Adenomatous Polyposis | Acute Leukemia | Nevoid Basal Cell Carcinoma Syndrome | Neurofibromatosis Type 1 | Neuroblastoma | Retinoblastoma | MDS | Rhabdomyosarcoma | Von Hippel-Lindau Disease | Adrenocortical Carcinoma and other conditions

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
Hospices Civils de Lyon

Recruiting

Comparison of Imaging Quality Between Spectral Photon Counting Computed Tomography (SPCCT) and Dual Energy Computed Tomography (DECT) (SPEQUA)

Coronary Artery Disease | Diabetes | Joint Diseases | Diabetic Foot Ulcer | Interstitial Lung Disease | Hyperaldosteronism | Kidney Stone | Intracranial Arteriovenous Malformations | Adrenal Incidentaloma | Parenchymatous; Pneumonia | Inner Ear Disease | Brain Stroke | Macroadenoma

France
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
Sanguine Biosciences

Recruiting

Tissue Repository Providing Annotated Biospecimens for Approved Investigator-directed Biomedical Research Initiatives

Heart Diseases | Stroke | Lymphoma | Multiple Sclerosis | Kidney Diseases | Diabetes | Leukemia | Age-Related Macular Degeneration | Cancer | Arthritis | Schizophrenia | Thyroid Diseases | Parkinson Disease | Hepatitis | Vasculitis | Psoriasis | Asthma | Amyloidosis | Fibromyalgia | Graves Disease | Alzheimer Disease | Celiac Disease | Cirr... 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
Children's Hospital of Philadelphia
Ilera Healthcare

Terminated

Pharmacokinetic (PK) and Pharmacodynamics (PD) Study of Ilera Specific Products (Ilera)

Epilepsy | Multiple Sclerosis | Glaucoma | Cancer | Parkinson Disease | HIV/AIDS | ALS | Autism Spectrum Disorder | Sickle Cell Disease | Spasticity, Muscle | Huntington Disease | Opioid Use | Neuropathy | Terminal Illness | Inflammatory Bowel Disease (IBD) | Intractable Pain | Ptsd | Dyskinetic Syndrome

United States
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
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
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
Sanford Health
National Ataxia Foundation; Beyond Batten Disease Foundation; Pitt Hopkins Research... and other collaborators

Recruiting

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford (CoRDS)

Mitochondrial Diseases | Retinitis Pigmentosa | Myasthenia Gravis | Eosinophilic Gastroenteritis | Multiple System Atrophy | Leiomyosarcoma | Leukodystrophy | Anal Fistula | Spinocerebellar Ataxia Type 3 | Friedreich Ataxia | Kennedy Disease | Lyme Disease | Hemophagocytic Lymphohistiocytosis | Spinocerebellar Ataxia... and other conditions

United States, Australia
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
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
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
Roswell Park Cancer Institute

Completed

Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies

Primary Myelofibrosis | Polycythemia Vera | Chronic Myelomonocytic Leukemia | Recurrent Adult Acute Myeloid Leukemia | Juvenile Myelomonocytic Leukemia | Extranodal Marginal Zone B-cell Lymphoma of Mucosa-associated Lymphoid Tissue | Nodal Marginal Zone B-cell Lymphoma | Recurrent Adult Burkitt Lymphoma and other conditions

United States
Brigham and Women's Hospital

Unknown

Study of an Intervention to Improve Problem List Accuracy and Use (MAPLE)

Coronary Artery Disease | Stroke | Glaucoma | Hypertension | Diabetes | Breast Cancer | Renal Insufficiency | Hemophilia | Hypothyroidism | Asthma | Renal Failure | Hyperthyroidism | Osteoporosis | Myasthenia Gravis | Sickle Cell Disease | Osteopenia | COPD | Congestive Heart Failure | Attention Deficit Disorder With Hyperactivity

United States
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
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

Clinical Trials on Ullrich Congenital Muscular Dystrophy

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Pakistan

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations