Clinical Trials on Pyruvate Metabolism, Inborn Errors

Total 4323 results

Nemours Children's Clinic

Recruiting

Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases

Charcot-Marie-Tooth Disease | Motor Neuron Disease | Amyotrophic Lateral Sclerosis | Muscular Dystrophy | Spinal Muscular Atrophy | Neuromuscular Disease | Spinal Muscular Atrophy With Respiratory Distress 1 | Peroneal Muscular Atrophy

United States
Centre Hospitalier Universitaire, Amiens

Completed

Evaluation and Characterization of Behavioural Disorders and Dementias by the Behavioural Dysexecutive Syndrome Inventory (BDSI) (ISDC)

Alzheimer Disease | Frontotemporal Dementia | Dementia, Vascular | Semantic Dementia | Huntington Disease

France
Umeå University
Karolinska Institutet; Lund University; Göteborg University

Enrolling by invitation

Direct Information to At-risk Relatives (DIRECT)

Lynch Syndrome | Hereditary Breast and Ovarian Cancer Syndrome | Familial Breast Cancer | Hereditary Breast Cancer | Familial Colorectal Cancer

Sweden
Central Hospital, Nancy, France

Unknown

Diphtheria, Tetanus, Poliomyelitis -Pertussis-Hib Immunisation in Preterm-born Neonates (VacciPrema)

Hib Immunisation in Very Preterm-born Infants | Pertussis Immunisation in Very Preterm-born Infants

France
AbiliTech Medical Inc.
Richard M. Schulze Family Foundation

Recruiting

Schulze Muscular Dystrophy Ability Clinical Study

Cerebral Palsy | Muscular Dystrophies | Duchenne Muscular Dystrophy | Becker Muscular Dystrophy | Spinal Muscular Atrophy | Limb Girdle Muscular Dystrophy | FSHD

United States
National Eye Institute (NEI)

Recruiting

National Eye Institute Biorepository for Retinal Diseases

Age-Related Macular Degeneration | Diabetic Retinopathy | Retinal Vein Occlusion | Retinal Disease | Von Hippel-Lindau Syndrome

United States
Pharvaris Netherlands B.V.

Active, not recruiting

Dose-ranging Study of Oral PHA-022121 for Prophylaxis Against Angioedema Attacks in Patients With Hereditary Angioedema Type I or Type II (HAE CHAPTER-1)

Hereditary Angioedema | Hereditary Angioedema Type I | Hereditary Angioedema Type II | Hereditary Angioedema Types I and II | Hereditary Angioedema Attack | Hereditary Angioedema With C1 Esterase Inhibitor Deficiency | Hereditary Angioedema - Type 1 | Hereditary Angioedema - Type 2 | C1 Esterase Inhibitor... and other conditions

United States, Poland, Germany, Austria, Bulgaria, Canada, Ireland, Italy, United Kingdom
University of Calgary
Alberta Health services; University of Alberta

Completed

Evaluating Innovations in Transition From Pediatric to Adult Care - The Transition Navigator Trial (TNT)

Stroke | Epilepsy | Autoimmune Diseases | Endocrine System Diseases | Diabetes | Hematologic Diseases | Genetic Diseases, Inborn | Traumatic Brain Injury | Autism Spectrum Disorder | Respiratory Disease | Cardiac Disease | Metabolic Disease | Renal Disease | Neuro-Degenerative Disease | Fetal Alcohol Spectrum Disorders | Gastro-Intestinal Disorder

Canada
The Foundation for Orthopaedics and Regenerative...

Recruiting

Safety of Cultured Allogeneic Adult Umbilical Cord Derived Mesenchymal Stem Cells for Eye Diseases

Glaucoma | Eye Diseases | Macular Degeneration | Diabetic Retinopathy | Retinitis Pigmentosa | Optic Atrophy | Traumatic Optic Neuropathy

Antigua and Barbuda, Argentina, Mexico
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
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
Centre Hospitalier Universitaire, Amiens

Terminated

Validation and Standardization of a Battery Evaluation of the Socio-emotional Functions in Various Neurological Pathologies (GREFEXII)

Stroke | Parkinson Disease | Alzheimer Disease | Traumatic Brain Injury | Huntington Disease | Frontal Dementia

France
Centre Hospitalier Universitaire, Amiens

Completed

Assessment of Social-emotional Functioning in Neurological Diseases (Emotion)

Stroke | Parkinson's Disease | Alzheimer Disease | Huntington Disease | Lewy Body Dementia

France
Skane University Hospital

Completed

Nerve Entrapment in Diabetic Patients

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

Sweden
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
First Affiliated Hospital of Fujian Medical University

Recruiting

Treatment of Transcranial Alternating Current Stimulation（tACS）on Cerebellar Ataxia

Spinocerebellar Ataxia Type 3 | Multiple System Atrophy-cerebellar Type

China
Pharvaris Netherlands B.V.

Completed

Dose-ranging Study of Oral PHA-022121 for Acute Treatment of Angioedema Attacks in Patients With Hereditary Angioedema (RAPIDe-1)

Hereditary Angioedema | Hereditary Angioedema Type I | Hereditary Angioedema Type II | Hereditary Angioedema Types I and II | Hereditary Angioedema Attack | Hereditary Angioedema With C1 Esterase Inhibitor Deficiency | Hereditary Angioedema - Type 1 | Hereditary Angioedema - Type 2 | C1 Esterase Inhibitor... and other conditions

Bulgaria, United States, Spain, Israel, Germany, Canada, Czechia, France, Hungary, Italy, Netherlands, Poland, United Kingdom
Oslo University Hospital
University of Oslo; Norwegian Institute of Public Health; Karolinska Institutet; Helsinki University Central Hospital and other collaborators

Active, not recruiting

Preventing Atopic Dermatitis and ALLergies in Children (PreventADALL)

Obesity | Cardiovascular Disease | Asthma | Rhinitis, Allergic | Atopic Dermatitis | Food Allergy in Children | Non-communicable Diseases

Norway
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 of Miami
National Institute of Neurological Disorders and Stroke (NINDS); National Institutes...

Recruiting

Phenotype, Genotype and Biomarkers 2 (PGB2)

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

United States, South Africa
M.D. Anderson Cancer Center
National Cancer Institute (NCI)

Active, not recruiting

Widefield Fluorescence and Reflectance Imaging Systems and Oral Tissue Samples in Monitoring Participants at Risk for Developing Oral Cancer

Tobacco Use Disorder | Fanconi Anemia | Lichen Planus | Oral Neoplasm | Erythroplakia | Premalignant Lesion | Oral Cavity and Lip Precancerous Condition | Oral Cavity Leukoplakia

United States
Leigh R. Hochberg, MD, PhD.
National Institute on Deafness and Other Communication Disorders (NIDCD)

Recruiting

Feasibility of the BrainGate2 Neural Interface System in Persons With Tetraplegia (BG-Speech-01)

Amyotrophic Lateral Sclerosis | Muscular Dystrophies | Spinal Cord Injuries | Tetraplegia | Dysarthria | Brain Stem Infarctions | Locked in Syndrome | Anarthria

United States
Boston University
National Institute on Minority Health and Health Disparities (NIMHD); University... and other collaborators

Recruiting

Scalable Communication Modalities for Returning Genetic Research Results (BWHS RoR)

Lynch Syndrome | Hereditary Breast and Ovarian Cancer

United States
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
Synchron Medical, Inc.

Active, not recruiting

COMMAND Early Feasibility Study: Implantable BCI to Control a Digital Device for People With Paralysis

Paralysis | Amyotrophic Lateral Sclerosis | Muscular Dystrophies | Spinal Cord Injuries | Neurologic Disorder | Spinal Muscular Atrophy | Cervical Spinal Cord Injury | Stroke, Lacunar | Paralysis; Stroke | Stroke Brainstem | Tetraplegic; Paralysis | Quadriplegia/Tetraplegia

United States
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
Bellicum Pharmaceuticals

Terminated

Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study

Lymphoma, Non-Hodgkin | Myelodysplastic Syndromes | Acute Lymphoblastic Leukemia | Primary Immunodeficiency | Anemia, Sickle Cell | Hemoglobinopathies | Fanconi Anemia | Anemia, Aplastic | Thalassemia | Cytopenia | Diamond Blackfan Anemia | Leukemia, Acute Myeloid (AML), Child

Italy
Floor Backes

Terminated

Tislelizumab for the Treatment of Recurrent Mismatch Repair Deficient Endometrial Cancer

Lynch Syndrome | Recurrent Endometrial Carcinoma | Recurrent Endometrial Clear Cell Adenocarcinoma | Recurrent Endometrial Cancer | Metastatic Endometrial Cancer | Mismatch Repair Deficiency | Recurrent Uterine Corpus Carcinosarcoma

United States
M.D. Anderson Cancer Center

Unknown

The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC)

Kidney Cancer | Colorectal Cancer | Bladder Cancer | Skin Cancer | Endometrial Cancer | Uterus Cancer

United States
Brown, Theodore R., M.D., MPH

Completed

Laughter Therapy Effects on Mood, Stress and Self-efficacy in People With Neurological Diseases.

Stroke | Multiple Sclerosis | Parkinson's Disease | Brain Injury | Amyotrophic Lateral Sclerosis | Alzheimer's Disease | Spinal Cord Injury | Huntington's Disease

United States
Children's Hospital Los Angeles
Lucile Packard Children's Hospital

Terminated

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

Metabolic Diseases | Stem Cell Transplantation | Chronic Granulomatous Disease | Bone Marrow Transplantation | Thalassemia | Wiskott-Aldrich Syndrome | Genetic Diseases | Peripheral Blood Stem Cell Transplantation | Pediatrics | Diamond-Blackfan Anemia | Allogeneic Transplantation | Combined Immune Deficiency | X-linked Lymphoproliferative Disease
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
National Institute of Allergy and Infectious Diseases...

Recruiting

Evaluating the Genetics and Immunology of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome and Other Tonsil Disorders

Obstructive Sleep Apnea | Sleep Disordered Breathing | Tonsillitis | Periodic Fever, Aphthous Stomatitis, Pharyngitis, And Cervical Adenitis (Pfapa) | Tonsil Disorder

United States
Synchron Medical, Inc.

Withdrawn

SWITCH II Early Feasibility Study: Implantable BCI to Control a Digital Device for People With Paralysis

Paralysis | Amyotrophic Lateral Sclerosis | Muscular Dystrophies | Neurologic Disorder | Spinal Muscular Atrophy | Spinal Cord Injury | Stroke, Lacunar | Upper Limb Injury | Paralysis; Stroke | Stroke, Brainstem

Australia
Roswell Park Cancer Institute

Completed

NMA Allogeneic Hematopoietic Cell Transplant in Hematologic Cancer/Disorders

Lymphoma | Myelodysplastic Syndromes | Leukemia | Chronic Myeloproliferative Disorders | Fanconi Anemia | Multiple Myeloma and Plasma Cell Neoplasm | Myelodysplastic/Myeloproliferative Diseases | Aplastic Anemia

United States
Wake Forest University Health Sciences

Terminated

T-cell Depleted Alternative Donor Transplantation

Acute Myeloid Leukemia | Acute Lymphoblastic Leukemia | Chronic Myeloid Leukemia | Myelodysplastic Syndrome | Immune Deficiency | Lymphomas | Bone Marrow Failure | Osteopetrosis | Hemoglobinopathy

United States
CENTOGENE GmbH Rostock

Completed

Biomarker for Duchenne Muscular Dystrophy (BioDuchenne)

Scoliosis | Muscular Atrophy | Duchenne Muscular Dystrophy | Lordosis | Muscular Weakness | Increased Lordosis/Scoliosis | Hyporeflexia | Red-Green Color Blindness

Egypt, India, Albania, Pakistan, Georgia, Lebanon, Romania, Sri Lanka
Oslo University Hospital

Enrolling by invitation

Physical Activity, Motor Competence, Pulmonary Function, and Quality of Life in Children With Severe Spinal Disease

Scoliosis | Scoliosis; Juvenile | Scoliosis; Idiopathic, Infantile | Scoliosis Neuromuscular | Scoliosis in Neurofibromatosis | Scoliosis; Congenital, Postural | Scoliosis in Skeletal Dysplasia | Scoliosis Associated With Other Conditions | Scoliosis; Congenital, Due to Bony Malformation

Norway
Azienda Ospedaliero-Universitaria Consorziale Policlinico...
Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies; Istituti... and other collaborators

Completed

Establishment of the Human Intestinal and Salivary Microbiota Biobank - Kidney Diseases (BIOMIS-Nefro)

Autosomal Dominant Polycystic Kidney Disease (ADPKD) | IgA Nephropathy (IgAN) | Diabetic Kidney Disease (DKD) | Advanced-Chronic Kidney Disease (CKD)

Italy
Masonic Cancer Center, University of Minnesota

Terminated

T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders

Hematologic Diseases | Hemophagocytic Lymphohistiocytosis | Immunologic Diseases | Chediak-Higashi Syndrome | X-Linked Lymphoproliferative Disorders | Griscelli Syndrome | Langerhans-Cell Histiocytosis

United States
Masonic Cancer Center, University of Minnesota

Completed

Stem Cell Transplant for Immunologic or Histiocytic Disorders

Immunologic Deficiency Syndromes | Hemophagocytic Lymphohistiocytosis | Chediak-Higashi Syndrome | X-Linked Lymphoproliferative Disorders | Griscelli Syndrome | Langerhans-Cell Histiocytosis

United States
National Heart, Lung, and Blood Institute (NHLBI)

Completed

Evaluation of Patients With Known or Suspected Heart Disease

Heart Failure | Coronary Disease | Pulmonary Hypertension | Peripheral Artery Disease | Dilated Cardiomyopathy | Renal Artery Stenosis | Diabetes and Heart Failure

United States
Ain Shams University

Unknown

National Registry for Egyptian Pediatric Neuromuscular Diseases

Muscular Dystrophy | Polyneuropathies | Spinal Muscular Atrophy | Muscle Diseases | Myasthenic Syndromes

Egypt
M.D. Anderson Cancer Center

Recruiting

Feasibility Study: IGNITE-TX (Identifying Individuals for Genetic Testing & Treatment) Intervention

Breast Cancer | Gynecologic Cancer | Pancreatic Cancer | Lynch Syndrome | Endometrial Cancer | Colon Cancer | Hereditary Breast and Ovarian Cancer Syndrome | Uterus Cancer | Ovary Cancer

United States
University of Basel

Recruiting

Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland (CASCADE)

Lynch Syndrome | Hereditary Breast and Ovarian Cancer

Switzerland
Oregon Health and Science University

Recruiting

Optimizing BCI-FIT: Brain Computer Interface - Functional Implementation Toolkit (BCI-FIT)

Amyotrophic Lateral Sclerosis | Muscular Dystrophies | Spinal Cord Injuries | Multiple System Atrophy | Parkinson's Disease and Parkinsonism | Brain Tumor Adult | Locked-in Syndrome | Brainstem Stroke

United States
Bellicum Pharmaceuticals

Terminated

Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant

Lymphoma, Non-Hodgkin | Acute Lymphoblastic Leukemia | Primary Immunodeficiency | Anemia, Sickle Cell | Hemoglobinopathies | Fanconi Anemia | Anemia, Aplastic | Myelodysplastic Syndrome | Thalassemia | Cytopenia | Diamond Blackfan Anemia | Osteopetrosis | Leukemia, Acute Myeloid (AML), Child

United Kingdom, Italy
Azienda Socio Sanitaria Territoriale degli Spedali...

Completed

Rehabilitative Trial With Cerebello-Spinal tDCS in Neurodegenerative Ataxia (CStDCSAtaxia)

Cerebellar Ataxia | Multiple System Atrophy | Spinocerebellar Ataxias | Spinocerebellar Degenerations | Spinocerebellar Ataxia 3 | Friedreich Ataxia | Spinocerebellar Ataxia Type 1 | Spinocerebellar Ataxia Type 2 | Ataxia, Spinocerebellar | Ataxia, Cerebellar | Ataxia With Oculomotor Apraxia

Italy
Associazione Italiana per lo Studio del Pancreas

Recruiting

Registry of Subjects at Risk of Pancreatic Cancer (IRFARPC)

Lynch Syndrome | BRCA1 Mutation | BRCA2 Mutation | Familial Pancreatic Cancer | Hereditary Pancreatitis | Peutz-Jeghers Syndrome | FAMMM - Familial Atypical Mole Malignant Melanoma Syndrome

Italy
MD Stem Cells

Recruiting

Stem Cell Ophthalmology Treatment Study II (SCOTS2)

Glaucoma | Age-Related Macular Degeneration | Macular Degeneration | Retinitis Pigmentosa | Leber Hereditary Optic Neuropathy | Optic Atrophy | Blindness | Optic Neuropathy | Vision, Low | Retinal Disease | Stargardt Disease | Maculopathy | Retinopathy | Optic Nerve Disease | Nonarteritic Ischemic Optic Neuropathy | Vision... and other conditions

United States, United Arab Emirates

Clinical Trials on Pyruvate Metabolism, Inborn Errors

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Finland

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations