Clinical Trials on Pyruvate Metabolism, Inborn Errors in France

Total 729 results

Assistance Publique - Hôpitaux de Paris

Completed

Evaluate the Effort Test as a Therapeutic Monitoring Tool in Acute Rhabdomyolyses (EFFORHAB)

Rhabdomyolysis Linked to a Hereditary Disease of Metabolism

France
Hospices Civils de Lyon

Unknown

Iron Metabolism in Cystic Fibrosis

Iron Metabolism, Cystic Fibrosis

France
Hospices Civils de Lyon

Not yet recruiting

Training in Shared Decision-making of Cystic Fibrosis Centers Competences in the Treatment of CF Related Diabetes in Adult Patients (FORAIDMUCO)

Diabetes | Cystic Fibrosis

France
Assistance Publique - Hôpitaux de Paris
Association pour l'Etude des Fonctions Digestives (AEFD)

Unknown

Safety and Efficacy of Oral Deferasirox in Patients With Porphyria Cutanea Tarda

Porphyria Cutanea Tarda

France
Hospices Civils de Lyon

Completed

Prevalence of Osteoporosis in Sickle Cell Disease (DREPAN'OS)

Sickle Cell Disease

France
Gustave Roussy, Cancer Campus, Grand Paris

Completed

LIFSCREEN : Evaluation of Whole Body MRI for Early Detection of Cancers in Subjects With P53 Mutation (Li-Fraumeni Syndrome) (LIFSCREEN)

Li Fraumeni Syndrome

France
Association Pour l'Aide a la Recherche en Immunologie...

Completed

Study Through Imaging of Visceral Lymphoid Organs in Patients With SCID Who Have Recieved Bone Marrow Allograft (LymphImaging)

Severe Combined Immunodeficiency

France
Orthofix s.r.l.

Not yet recruiting

Post-market Observational Study on JTIN Telescopic Nail in Osteogenesis Imperfecta Pediatric Patients (JTIN)

Osteogenesis Imperfecta

France
Centre Hospitalier Régional d'Orléans

Active, not recruiting

Interest of Nutritional Care of Children With Sickle Cell Disease on Bone Mineral Density and Body Composition (NUTRIDREP)

Osteoporosis | Sickle Cell Disease | Osteopenia

France
Centre Hospitalier Intercommunal Creteil

Completed

Ocular Discomfort Assessment After Intravitreal Injections (EVAGO)

Macular Degeneration | Diabetic Retinopathy | Myopia, Degenerative | Retinal Artery Occlusion

France
Nantes University Hospital

Completed

Hemophilia and Bone Metabolism: Study of Monocytic Populations and Inflammatory Proteins (BOHEM)

Hemophilia | Arthropathy | Osteopenia

France
Assistance Publique - Hôpitaux de Paris

Completed

CHROENDOHNPCC: Early Detection of Pre-cancer Lesions in Adults With Hereditary Nonpolyposis Colorectal Cancer Syndrome

Colorectal Neoplasms, Hereditary Nonpolyposis

France
Centre Hospitalier Universitaire de Pointe-a-Pitre
Direction Générale de l'Offre de Soins

Recruiting

Lipid Balance in Adult Sickle Cell Patients (HDL2)

Dyslipidemia | Sickle Cell Disease | Complication

France
Hospices Civils de Lyon

Terminated

Bone Microarchitecture in Men With Hemophilia (HEMOS)

Osteoporosis | Severe Hemophilia A

France
Assistance Publique - Hôpitaux de Paris

Recruiting

Safety and Efficacy Study of Transplantation of Autologous CD34+ Cells Transduced With the G2ARTE Lentiviral Vector Expressing the DCLRE1C cDNA in Artemis (DCLRE1C) Deficient Severe Combined Immunodeficiency Patients (ARTEGENE) (ARTEGENE)

Artemis (DCLRE1C ) Deficient Severe Combined Immunodeficiency

France
Hospices Civils de Lyon

Completed

Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study (miROI)

Osteogenesis Imperfecta

France
Hospices Civils de Lyon

Unknown

Radiological Analysis on Patients With Achondroplasia Disorder (Achondroplasia)

Achondroplasia

France
Assistance Publique - Hôpitaux de Paris

Recruiting

Safety and Efficacy Study of Human T Lymphoid Progenitor (HTLP) Injection After Partially HLA Compatible Allogeneic Hematopoietic Stem Cell Transplantation in SCID Patients (HTLP Necker)

Pediatric Patients | Any Type of Severe Combined Immunodeficiency (SCID) | Partial HLA Incompatible Allogeneic Hematopoietic Stem Cell Transplantation (HSCT)

France
Centre Hospitalier Universitaire de Saint Etienne
Fondation de France

Terminated

Effects of a Physical Rehabilitation Program Using the Nintendo Wii on Children With Osteogenesis Imperfecta (OI)

Osteogenesis Imperfecta

France
University Hospital, Toulouse

Recruiting

Adapted Physical Activity Program (APA) for Effort Rehabilitation of Children and Teenagers With Osteogenesis Imperfecta (BONeMOVE)

Osteogenesis Imperfecta

France
Institut National de la Santé Et de la Recherche...
Imagine Institute

Recruiting

Evaluation of the Effect of Artesunate in Friedreich Ataxia (FA) (ARTEMIS)

Friedreich Ataxia

France
Assistance Publique - Hôpitaux de Paris

Completed

Effect of Pioglitazone Administered to Patients With Friedreich's Ataxia: Proof of Concept (ACTFRIE)

Friedreich's Ataxia

France
Assistance Publique - Hôpitaux de Paris

Completed

Iron-Chelating Therapy and Friedreich Ataxia

Friedreich Ataxia

France
Assistance Publique Hopitaux De Marseille

Unknown

Preventive Fixation of Lower Limbs in Osteogenesis Imperfecta (Brittle Bone Disease) With the Highlight of the Fassier-Duval (Fassier-Duval)

Brittle Bone Disease

France
University Hospital, Montpellier
Neurogenetic department, CHU Bordeaux; Genetic Department , CHU Montpellier-France and other collaborators

Unknown

Characterization of the Interruptions of the GAA Expansion and Study of Their Influence on the Severity of Friedreich's Ataxia (INTREP-AF)

Friedreich Ataxia

France
Ipsen

Completed

Efficacy of EGb761 in Patients Suffering From Friedreich Ataxia

Friedreich Ataxia

France
University Hospital, Strasbourg, France

Completed

Metabolic Efficiency of Combined Pancreatic Islet and Lung Transplant for the Treatment of End-Stage Cystic Fibrosis (PIM)

Cystic Fibrosis | Insulin-dependent Diabetes | Diabetes Related Cystic Fibrosis

France
Hospices Civils de Lyon

Completed

Evaluation of the Benefits of Adaptive Physical Activity in Children and Adolescents With Osteogenesis Imperfecta (MOVE-OI)

Osteogenesis Imperfecta

France
Assistance Publique - Hôpitaux de Paris

Completed

Osteoporosis in RETT Syndrome (OSRETT)

RETT Syndrome With Proven MECP2 Mutation

France
University Hospital, Strasbourg, France

Recruiting

Metabolic Study of Cockayne Syndrome (METABO-CS)

Cockayne Syndrome

France
Adverum Biotechnologies, Inc.
Adverum Biotechnologies SAS, a wholly owned subsidiary of Adverum Biotechnologies...

Completed

A Study to Characterize the Cardiac Phenotype of Individuals With Friedreich's Ataxia (CARFA Study)

Friedreich's Ataxia

France
Merck KGaA, Darmstadt, Germany
Merck Serono S.A.S, France

Completed

Efficacy and Safety Evaluation of Recombinant Human Growth Hormone (r-hGH), Saizen®, on a Population of Children With Hypochondroplasia, Treated at Least 3 Years or Until Near Final Height, When Applicable, in Comparison With a Historic Cohort of Non-treated Children

Hypochondroplasia

France
Hôpital Necker-Enfants Malades
European Georges Pompidou Hospital; CLAIROP

Completed

Trial of Befizal® 200 mg for the Treatment of Leber Hereditary Optic Neuropathy (Béfinohl)

Safety Issues | Efficacy, Self

France
Assistance Publique - Hôpitaux de Paris

Completed

Gene Therapy for X-linked Severe Combined Immunodeficiency (SCID2)

X-linked Severe Combined Immunodeficiency

France
University Hospital, Angers

Unknown

Trial of Cyclosporine in the Acute Phase of Leber Hereditary Optic Neuropathy (CICLO-NOHL)

Leber Hereditary Optic Neuropathy

France
Assistance Publique - Hôpitaux de Paris
Vaincre la Mucoviscidose

Completed

Study of Circulating Blood Cell Monocytes as Predictive Biomarker of Bone Cystic Fibrosis Disease. Impact of CFTR Correctors. (MUCO-OS)

Cystic Fibrosis

France
University Hospital, Toulouse

Completed

Tolerance of Intranasal Administration of OT in Prader-Willi Newborn Babies (OTBB)

Prader-Willi Syndrome

France
GenSight Biologics

Completed

Safety Evaluation of Gene Therapy in Leber Hereditary Optic Neuropathy (LHON) Patients

Leber Hereditary Optic Neuropathy

France
Hôpital Necker-Enfants Malades
Vaincre la Mucoviscidose

Completed

Quantitative Computed Tomodensitometry in Patients With Cystic Fibrosis (TOMODENS)

Cystic Fibrosis

France
University Hospital, Strasbourg, France

Recruiting

Growth Curves in Cockayne Syndrome Type 1 and Type 2 (Curves-CS)

Cockayne Syndrome, Type I and II

France
Assistance Publique - Hôpitaux de Paris

Recruiting

Audio-vestibular Evaluation of Children and Young Adults With Osteogenesis Imperfecta (AVOI)

Osteogenesis Imperfecta

France
Hospices Civils de Lyon

Completed

Vitamin D Status in Children With Sickle Cell Disease Living in Lyon, France (EVADDREP)

Vitamin D Deficiency | Sickle Cell Disease

France
Assistance Publique - Hôpitaux de Paris

Completed

A Call Center During HAE Attacks (SOS HAE) (SOS AOH)

Hereditary Angioedema

France
Assistance Publique - Hôpitaux de Paris

Recruiting

Improving Care of Prader-Willi Syndrome : Evaluation of a New Care Program Combining Adapted Physical Activity, Nutrition and Therapeutic Education (APHYNET)

Obesity | Prader-Willi Syndrome

France
University Hospital, Toulouse

Completed

Study of Emotion and Cognition Abilities of Children With PWS and Proposition of an Innovative Remediation (PRACOM1)

Prader-Willi Syndrome

France
Assistance Publique - Hôpitaux de Paris

Recruiting

Effect of Chemoprevention by Low-dose Aspirin of New or Recurrent Colorectal Adenomas in Patients With Lynch Syndrome (AAS-Lynch)

Lynch Syndrome

France
University Hospital, Toulouse

Recruiting

Register of Patients With Prader-Willi Syndrome

Prader-Willi Syndrome

France
University Hospital, Toulouse

Completed

Oxytocin Intranasal Administrations in Children With Prader-Willi Syndrome Aged From 3 to 12 Years (Oxyjeune)

Prader-Willi Syndrome

France
University Hospital, Toulouse

Completed

Effects of Intranasal Administration of Oxytocin in Adults With Prader-Willi Syndrome (PRADOTIM)

Prader-Willi Syndrome

France
University Hospital, Toulouse

Not yet recruiting

Adolescent Projections During Transition in Prader-Willi Syndrome (APT-WILL)

Prader-Willi Syndrome

France

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