Clinical Trials on Methylmalonyl-Coenzyme A Mutase Deficiency

Total 251 results

Karolinska Institutet
The Swedish Research Council; Hoffmann-La Roche

Completed

Interactions of Hepatitis C Viral (HCV) Dynamics and Immune Activation in HIV Coinfected Patients During HCV Treatment (DICO)

Chronic Hepatitis C | Human Immunodeficiency Virus

Sweden
Fundación Española de Hematología y Hemoterapía

Recruiting

PREDIGA 2: Spanish Acronym of "Educational and Diagnostic Project for Gaucher and ASMD" (PREDIGA-2)

Niemann-Pick Diseases | Gaucher Disease | Splenomegaly | Acid SphingoMyelinase Deficiency | ASMD

Spain
National Institute of Allergy and Infectious Diseases...

Completed

Safety and Effectiveness of Azidothymidine (AZT) in HIV-Positive Patients With Hemophilia

HIV Infections | Hemophilia A

United States
University of California, San Francisco
California HIV/AIDS Research Program

Completed

Treatment of Acute Hepatitis C Virus in HIV Co-Infection

HIV Infections | Hepatitis C | Human Immunodeficiency Virus

United States
Janssen-Cilag International NV

Completed

An Efficacy and Safety Study of Telaprevir in Patients Infected With Both Chronic Hepatitis C Virus (HCV-1) and Human Immunodeficiency Virus (HIV-1) (INSIGHT)

Chronic Hepatitis C

Australia, France, United Kingdom, Spain, Russian Federation, Brazil, Poland, Sweden
Janssen R&D Ireland

Completed

A Study to Assess the Safety, Tolerability and Efficacy of TMC435 Along With Pegylated Interferon Alpha-2a (Pegasys) and Ribavirin (Copegus) Triple Therapy in Chronic Hepatitis C Genotype-1 Infected Patients Co-infected With Human Immunodeficiency Virus-Type 1

Hepatitis C Virus Genotype-1

United States, France, United Kingdom, Germany, Spain, Portugal, Canada, Puerto Rico
Gilead Sciences

Completed

Efficacy and Safety of Sofosbuvir/Velpatasvir Fixed Dose Combination for 12 Weeks in Adults With Chronic Hepatitis C Virus (HCV) and Human Immunodeficiency Virus (HIV)-1 Coinfection (ASTRAL-5)

Hepatitis C Virus Infection

United States
Maimónides Biomedical Research Institute of Córdoba

Unknown

Status of Chronic Liver Disease in Hepatitis C Virus (HCV) Patients Coinfected With Human Immunodeficiency Virus (HIV) in Andalusia

Chronic Hepatitis C | Human Immunodeficiency Virus (HIV)
ViiV Healthcare
Pfizer

Withdrawn

Maraviroc Versus Etravirine In Combination With Antiretroviral Therapy In Drug Experienced HIV And Hepatitis Co-Infected Patients

Hepatitis B | Hepatitis C, Chronic | Human Immunodeficiency Virus

United States, Canada, Poland
National Institute of Allergy and Infectious Diseases...

Completed

Lamivudine and Adefovir to Treat Chronic Hepatitis B Infection in People With and Without HIV Infection

HIV Infections | Chronic Hepatitis B

United States
Genzyme, a Sanofi Company

Terminated

Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)

Niemann-Pick Disease | Acid Sphingomyelinase Deficiency

United States
Hospitales Universitarios Virgen del Rocío
Instituto de Biomedicina de Sevilla

Enrolling by invitation

Seville Cohort of People at Substantial Risk for HIV Infection on Pre-exposure Prophylaxis (SeVIHPrEP)

Hepatitis, Viral, Human | HIV Infection Primary | Sexually Transmitted Infections, Excluding HIV and Hepatitis

Spain
Sanofi

Approved for marketing

Compassionate Use Program for Olipudase Alfa Enzyme Replacement Therapy for Patients With Chronic Acid Sphingomyelinase Deficiency (ASMD)

Sphingomyelin Lipidosis
Genzyme, a Sanofi Company

Completed

Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency (ASCEND-Peds)

Sphingomyelin Lipidosis

Brazil, France, Italy, United States, Germany, United Kingdom
Valme University Hospital
Hospital Universitario Virgen Macarena; Hospital Universitario Reina Sofia... and other collaborators

Completed

Hepatic Safety of Currently Used Antiretroviral Regimens in Patients With Chronic Hepatitis Under Real Life Conditions

Hepatitis C, Chronic | Hepatitis B, Chronic | Human Immunodeficiency Virus

Spain
Peregrine Pharmaceuticals

Completed

Bavituximab Repeat-Dose Trial in Patients Co-Infected With Chronic Hepatitis C Virus and Human Immunodeficiency Virus

Hepatitis C Virus | Hiv Infections

United States
Rocket Pharmaceuticals Inc.

Active, not recruiting

Lentiviral-mediated Gene Therapy for Pediatric Patients With Fanconi Anemia Subtype A

Fanconi Anemia Complementation Group A

Spain, United Kingdom
Rocket Pharmaceuticals Inc.

Active, not recruiting

Gene Therapy for Fanconi Anemia, Complementation Group A

Fanconi Anemia Complementation Group A

United States
Sanofi

Completed

A Prospective and Retrospective Cohort Study in Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)

Sphingomyelin Lipidosis

Italy, Czechia, Belgium, France, Portugal, Turkey, United States, Argentina, Brazil, Chile, Germany, Romania, Spain
Johns Hopkins University
National Institute on Drug Abuse (NIDA); National Institutes of Health (NIH)

Completed

CHAMPS Study: Chronic HepAtitis C Management to ImProve OutcomeS (CHAMPS)

Human Immunodeficiency Virus | Hepatitis C Virus Infection, Response to Therapy of

United States
Gilead Sciences

Completed

Safety and Efficacy of Ledipasvir/Sofosbuvir (LDV/SOF) Fixed-Dose Combination (FDC) for 6 Weeks in Adults With Acute Genotype 1 or 4 Hepatitis C Virus (HCV) and Chronic Human Immunodeficiency Virus (HIV)-1 Co-Infection

Hepatitis C Infection With HIV Co-Infection

United Kingdom, Germany
National Institutes of Health Clinical Center (CC)
Washington D.C. Veterans Affairs Medical Center

Completed

Long-Term Study of Liver Disease in People With Hepatitis B and/or Hepatitis C With or Without HIV Infection

Hepatitis B | Hepatitis C | HIV-HCV Co-Infection

United States
Genzyme, a Sanofi Company

Completed

Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency (ASCEND)

Sphingomyelin Lipidosis

United States, Argentina, Australia, Belgium, Brazil, Bulgaria, Chile, France, Germany, Italy, Japan, Netherlands, Portugal, Spain, Tunisia, Turkey, United Kingdom
Genzyme, a Sanofi Company

Completed

A Long-Term Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency

Sphingomyelin Lipidosis

United States, Belgium, Brazil, France, Germany, Italy, United Kingdom
AbbVie

Completed

A Study to Evaluate the Efficacy and Safety of Glecaprevir/Pibrentasvir (ABT-493/ABT-530) in Treatment-Naive and Treatment-Experienced, Non-Cirrhotic Asian Adults With Chronic Hepatitis C Virus Genotype (GT) 1 to GT6 Infection With or Without Human Immunodeficiency Virus Co-Infection (VOYAGE-1)

Hepatitis C Virus (HCV)

China, Korea, Republic of, Singapore
Biocad

Completed

An Open-label Randomized Multicenter Phase III Clinical Study Comparing Safety and Efficacy of Algeron (Cepeginterferon Alfa-2b) and and PegIntron (Peginterferon Alfa-2b) in Combination With Ribavirin as Combined Treatment of Chronic Hepatitis C in Human Immunodeficiency Virus-1 Infected Patients

Hepatitis | Hepatitis C | Hepatitis C/ Human Immunodeficiency Virus Coinfection

Russian Federation
Albert Einstein College of Medicine
Eunice Kennedy Shriver National Institute of Child Health and Human Development... and other collaborators

Enrolling by invitation

ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program (ScreenPlus)

Mucopolysaccharidosis II | Fabry Disease | Niemann-Pick Disease, Type C | Mucopolysaccharidosis VI | Lysosomal Acid Lipase Deficiency | Metachromatic Leukodystrophy | Gaucher Disease | Cerebrotendinous Xanthomatosis | Mucopolysaccharidosis IV A | GM1 Gangliosidosis | Mucopolysaccharidosis VII | Acid Sphingomyelinase... and other conditions

United States
National Taiwan University Hospital

Recruiting

HCV Reinfection in in HIV/HCV-coinfected Patients Achieving SVR by Antiviral Therapy

Hepatitis C Virus Infection | Hepatitis C Virus Infection, Response to Therapy of | Human Immunodeficiency Virus (HIV) Coinfection

Taiwan
Institut de Recherche pour le Developpement
Expertise France-L'Initiative; French National Research Institute for Sustainable...

Recruiting

User-friendly HIV Testing and Counseling Services

HIV Infections | Hepatitis C | Hepatitis B, Chronic | Sexually Transmitted Infection

Thailand
AbbVie

Completed

Efficacy and Safety of Glecaprevir/Pibrentasvir (ABT-493/ABT-530) in Treatment-Naive and Treatment-Experienced Asian Adults With Chronic Hepatitis C Virus Genotype (GT) 1 to GT6 Infection With Compensated Cirrhosis and With or Without Human Immunodeficiency Virus Co-Infection (VOYAGE-2)

Hepatitis C Virus (HCV)

China, Korea, Republic of
Eline C. B. Eskes

Recruiting

Magnetic Resonance Spectroscopy in Acid Sphingomyelinase Deficiency (MONACO)

Asmd, Visceral Type

Netherlands
National Heart, Lung, and Blood Institute (NHLBI)

Completed

Retrovirus Epidemiology Donor Study-II (REDS-II)

HIV Infections | Acquired Immunodeficiency Syndrome | Retroviridae Infections | Hepatitis B | Hepatitis, Viral, Human | Blood Transfusion | HIV-1 | Blood Donors | Hepacivirus | HIV-2 | HTLV-I | HTLV-II | West Nile Virus
LMU Klinikum
University of Pisa; German Federal Ministry of Education and Research; European...

Recruiting

Global Registry and Natural History Study for Mitochondrial Disorders

Mitochondrial Diseases | MDS | Mitochondrial Myopathies | MELAS Syndrome | MIDD | Kearns-Sayre Syndrome | MERRF Syndrome | Barth Syndrome | Leigh Syndrome | MNGIE | LHON | Pearson Syndrome | NARP Syndrome | Coenzyme Q10 Deficiency | SANDO | SCAE | MIRAS | CPEO

Austria, Germany, Italy
Hospital Universitari Vall d'Hebron Research Institute
Erasme University Hospital; Cyprus Institute of Neurology and Genetics; EuroBloodNet...

Recruiting

RADeep Multicenter European Epidemiological Platform for Patients Diagnosed With Rare Anemia Disorders (RADs) (RADeep)

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
AbbVie

Completed

A Study to Evaluate the Efficacy and Safety of Experimental Drugs ABT- 493/ABT-530 in Adults With Chronic Hepatitis C Virus Genotype 1-6 Infection and Human Immunodeficiency Virus -1 Coinfection (EXPEDITION-2) (EXPEDITION-2)

Hepatitis C Virus Infection | Chronic Hepatitis C | Human Immunodeficiency Virus Infection | Compensated Cirrhosis and Non-cirrhotics
AbbVie

Completed

A Multipart, Open-label Study to Evaluate the Safety and Efficacy of ABT-450/r/ABT-267 With and Without ABT-333 Coadministered With and Without Ribavirin in Adult With Genotype 1 or 4 Hepatitis C Virus (HCV) Infection and Human Immunodeficiency Virus, Type 1 Coinfection (TURQUOISE-I)

Hepatitis C Virus Infection | Chronic Hepatitis C | Human Immunodeficiency Virus Infection | Compensated Cirrhosis and Non-cirrhotics
GlaxoSmithKline

Terminated

Eltrombopag To Reduce The Need For Platelet Transfusion In Subjects With Chronic Liver Disease And Thrombocytopenia Undergoing Elective Invasive Procedures (ELEVATE)

Liver Diseases | HIV Infection | Thrombocytopenia | Hepatitis C Virus | HBV | NASH - Nonalcoholic Steatohepatitis | Human Immunodeficiency Virus | Chronic Liver Disease | HCV | Non-alcoholic Steatohepatitis | Hepatitis B Virus

United States, Spain, Taiwan, Italy, Belgium, France, Korea, Republic of, Canada, Russian Federation, Pakistan, Poland, India, Argentina
University of Alabama at Birmingham
National Institutes of Health (NIH); Fogarty International Center of the National...

Active, not recruiting

Liver Fibrosis in Zambian HIV-HBV Co-infected Patients

Hepatocellular Carcinoma | Fibrosis, Liver | HBV | Cirrhosis, Liver | Human Immunodeficiency Virus | Alcoholic Hepatitis | Hepatitis Delta Virus

Zambia
Bloodworks
National Heart, Lung, and Blood Institute (NHLBI)

Completed

Prospective Study of HIV Infection in Hemophiliacs

HIV Infections | Acquired Immunodeficiency Syndrome | Hemophilia A | Hepatitis, Viral, Human | Blood Disease | Cytomegalovirus Infections | Blood Transfusion
NHS Blood and Transplant
Irish Blood Transfusion Service; Welsh Blood Service; Scottish National Blood...

Completed

Notification of Donors With Positive Microbiology Markers

Hepatitis B | Hepatitis C | Human Immunodeficiency Virus | Creutzfeldt-Jakob Syndrome | Human T-lymphotropic Virus I & II

United Kingdom
University of Cincinnati
Children's Hospital Medical Center, Cincinnati

Terminated

Study of Bile Acids in Patients With Peroxisomal Disorders

Adrenoleukodystrophy | Zellweger Syndrome | Infantile Refsum's Disease | Bifunctional Enzyme Deficiency
Eunice Kennedy Shriver National Institute of Child...

Recruiting

Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls

Niemann-Pick Disease Type C1 | Juvenile Neuronal Ceroid Lipofuscinosis | Smith-Lemli-Opitz Syndrome | Creatine Transporter Deficiency

United States
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
Foundation Fighting Blindness

Recruiting

Inherited Retinal Degenerative Disease Registry (MRTR)

Retinitis Pigmentosa | Choroideremia | Usher Syndrome | Batten Disease | Leber Congenital Amaurosis | Goldmann-Favre Syndrome | Kearns-Sayre Syndrome | Retinal Disease | Bardet-Biedl Syndrome | Stargardt Disease | Cone Dystrophy | Retinoschisis | Achromatopsia | Gyrate Atrophy | Eye Diseases Hereditary | Bassen-Kornzweig... and other conditions

United States
Neonc Technologies, Inc.

Recruiting

Safety and Efficacy of NEO212 in Patients With Astrocytoma IDH-mutant, Glioblastoma IDH-wildtype or Brain Metastasis

Melanoma | Renal Cell Carcinoma | Cervical Cancer | Small Cell Lung Cancer | Gastric Cancer | Colorectal Cancer | Esophageal Cancer | Non-small Cell Lung Cancer | Head and Neck Squamous Cell Carcinoma | Esophageal Squamous Cell Carcinoma | Urothelial Carcinoma | Merkel Cell Carcinoma | Gastroesophageal Junction... and other conditions

United States
Joanne Kurtzberg, MD
The Marcus Foundation

Recruiting

UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells (DUOC-01)

Mucopolysaccharidosis II | Brain Diseases, Metabolic, Inborn | Adrenoleukodystrophy | Batten Disease | Leukodystrophy, Metachromatic | Leukodystrophy, Globoid Cell | Alpha-Mannosidosis | Tay-Sachs Disease | Pelizaeus-Merzbacher Disease | Sandhoff Disease | Neimann Pick Disease | Sanfilippo Mucopolysaccharidoses

United States
Masonic Cancer Center, University of Minnesota

Terminated

Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism

Sphingolipidoses | Niemann-Pick Disease, Type C | Krabbe Disease | Sly Syndrome | Fucosidosis | Aspartylglucosaminuria | Alpha Mannosidosis | Hurler's Syndrome | Maroteaux-Lamy Syndrome | Wolman's Disease | Niemann-Pick Disease Type B

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
Fairview University Medical Center

Unknown

Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation

Mucopolysaccharidosis I | Niemann-Pick Disease | Mucopolysaccharidosis VI | Wolman Disease | Adrenoleukodystrophy | Metachromatic Leukodystrophy | Pulmonary Complications | Fucosidosis | Globoid Cell Leukodystrophy | Gaucher's Disease | Mannosidosis | I Cell Disease

United States
Talaris Therapeutics Inc.
Duke University

Terminated

Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders

Niemann-Pick Disease | Alpha-mannosidosis | Tay Sachs Disease | Sandhoff Disease | Metachromatic Leukodystrophy (MLD) | Hurler-Scheie Syndrome | Hurler Syndrome (MPS I) | Hunter Syndrome (MPS II) | Sanfilippo Syndrome (MPS III) | Krabbe Disease (Globoid Leukodystrophy) | Adrenoleukodystrophy (ALD and AMN) | Pelizaeus...

United States

Clinical Trials on Methylmalonyl-Coenzyme A Mutase Deficiency

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Drug Interventions

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CROs in Guinea

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Rare Diseases

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