Clinical Trials on Autosomal Recessive Ataxia Due to Ubiquinone Deficiency

Profound Bilateral Deafness Due to | Bilateral Cochlear Aplasia | Bilateral Cochlear Nerve Deficiency | Bilateral Cochlear Ossification Secondary to Meningitis

United States

Generalized Arterial Calcification in Infancy | Autosomal Recessive Hypophosphatemic Rickets Type 2

United States

Female Stress Urinary Incontinence Due to Intrinsic Sphincter Deficiency

United States

Primary Hyperoxaluria Type 3 | Diabetes Mellitus | Hemophilia A | Hemophilia B | Hereditary Fructose Intolerance | Cystic Fibrosis | Factor VII Deficiency | Phenylketonurias | Sickle Cell Disease | Dravet Syndrome | Duchenne Muscular Dystrophy | Prader-Willi Syndrome | Fragile X Syndrome | Chronic Granulomatous Disease and other conditions

United States

Irritable Bowel Syndrome | Functional Gastrointestinal Disorders | Sucrase Isomaltase Deficiency | Sucrose Intolerance Due to Sucrase-Isomaltase Deficiency | Carbohydrate; Malabsorption

Vitamin D Deficiency | Chronic Kidney Disease 5D | Secondary Hyperparathyroidism Due to Renal Causes

China

Generalized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets | Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency

United States, Canada, Germany, France, United Kingdom

Generalized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets | Ectonucleotide Pyrophosphatase/Phosphodiesterase1 Deficiency

United States, United Kingdom, Canada

Homocystinuria Due to CBS Deficiency

Ireland, Qatar, United States, United Kingdom

Premature Birth | Birth Weight | Post Partum Depression | Fetal Complications | Health Care Utilization | Food Deprivation | Housing Problems | Nutrition Deficiency Due to Insufficient Food

United States

Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) Deficiency

Sweden, France, Italy, Spain, Germany, Netherlands, Austria, Slovakia, Portugal

PET Imaging | Lymphopenia Due to COVID-19 | T-cell

Netherlands

Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

United States, United Kingdom, Australia

Chronic Kidney Diseases | Vitamin D Deficiency | Stage 5 Chronic Kidney Disease | Secondary Hyperparathyroidism Due to Renal Causes

United States

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

Iron Metabolism Disorders | Sickle Cell Disease | Thalassemia | Hemolytic; Anemia, Hereditary, Due to Enzyme Disorder | Anemia Due to Membrane Defect | CDA | Sideroblastic Anemia | Constitutional Aplastic Anemia | Hereditary Anemia

Spain

Movement Disorders | Intellectual Disability | Seizures | Ataxia | Glut1 Deficiency Syndrome | De Vivo Disease

France

Generalized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets | Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency | ATP-Binding Cassette Subfamily C Member 6 Deficiency

Oxygen Deficiency | Corona Virus Infection | ARDS Due to Disease Caused by Severe Acute Respiratory Syndrome Coronavirus 2

Poland

Pseudoxanthoma Elasticum | Arterial Calcification | Gene Mutations | Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency | Autosomal Recessive Hypophosphatemic Rickets Type 2

Pseudoxanthoma Elasticum | Generalized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets | Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency | ATP-Binding Cassette Subfamily C Member 6 Deficiency

United States, United Kingdom, Spain

Pseudoxanthoma Elasticum | Generalized Arterial Calcification in Infancy | Autosomal Recessive Hypophosphatemic Rickets

Germany

Generalized Arterial Calcification of Infancy | Autosomal Recessive Hypophosphatemic Rickets Type2

United States

Vasculitis | AL Amyloidosis | Tuberous Sclerosis | Fabry Disease | Cystinuria | Focal Segmental Glomerulosclerosis | IgA Nephropathy | Bartter Syndrome | Pure Red Cell Aplasia | Membranous Nephropathy | Atypical Hemolytic Uremic Syndrome | Autosomal Dominant Polycystic Kidney Disease | Cystinosis | Nephronophthisis | BK Nephropathy and other conditions

United Kingdom

Acute Myeloid Leukemia | Leukocyte Disorders | Acute Lymphoblastic Leukemia | Chronic Myeloid Leukemia | Myelodysplastic Syndrome | Cytopenias | Immune Deficiency | Lymphomas | Bone Marrow Failure | Osteopetrosis | Hemoglobinopathy | Anemia Due to Intrinsic Red Cell Abnormality

United States

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

Emery-Dreifuss Muscular Dystrophy | Congenital Myasthenic Syndrome | Limb-Girdle Muscular Dystrophy | Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency | Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) and other conditions

United States