Clinical Trials on Fructose Metabolism, Inborn Errors

Total 4337 results

University of British Columbia

Suspended

Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project

Exostoses, Multiple Hereditary

Canada
Shire

Completed

Efficacy and Safety Study of DX-88 to Treat Acute Attacks of Hereditary Angioedema (HAE)

Hereditary Angioedema (HAE)

United States
Shire

Completed

Long-term Safety and Efficacy Study of DX-2930 (SHP643) to Prevent Acute Angioedema Attacks in Patients With Type I and Type II HAE

Hereditary Angioedema (HAE)

United States, United Kingdom, Germany, Canada, Italy, Jordan, Puerto Rico
Shire

Completed

Study to Evaluate the Clinical Efficacy and Safety of Subcutaneously Administered C1 Esterase Inhibitor for the Prevention of Angioedema Attacks in Adolescents and Adults With Hereditary Angioedema

Hereditary Angioedema (HAE)

Spain, Israel, United States, Hungary, Germany, Canada, Romania
Shire

Completed

CINRYZE for the Treatment of Hereditary Angioedema Attacks in Children Under the Age of 12

Hereditary Angioedema (HAE)

United States, Germany, Hungary
Shire

Completed

Subcutaneous CINRYZE With Recombinant Human Hyaluronidase for Prevention of Angioedema Attacks

Hereditary Angioedema (HAE)

United States, Germany, Spain, Sweden
Shire

Completed

Open-label, Single-arm Study to Assess the Pharmacokinetics, Safety, and Tolerability of a Single Subcutaneous Dose of Icatibant in Healthy Japanese Volunteers

Hereditary Angioedema (HAE)

United States
Shire

Completed

Safety and Efficacy Study of CINRYZE for Prevention of Angioedema Attacks in Children Ages 6-11 With Hereditary Angioedema

Hereditary Angioedema (HAE)

Israel, Germany, Mexico, United States, Romania
Shire

Completed

A Study of Icatibant for Acute Attacks of Hereditary Angioedema in Japanese Participants

Hereditary Angioedema (HAE)

Japan
Shire

Completed

A Double-Blind, Multiple Ascending Dose Study to Assess Safety, Tolerability and Pharmacokinetics of DX-2930 in Hereditary Angioedema Participants

Hereditary Angioedema (HAE)

United States, Jordan, Italy
BioCryst Pharmaceuticals

Completed

Efficacy and Safety of BCX7353 to Prevent Angioedema Attacks in Subjects With Hereditary Angioedema (APeX-1)

Hereditary Angioedema (HAE)

Canada, United Kingdom, Germany, Spain, Australia, Hungary, Italy, Austria, North Macedonia, Denmark, Switzerland
Stanley Jordan, MD
CSL Behring

Completed

Safety & Tolerability of Berinert® (C1 Inhibitor) Therapy to Prevent Rejection

Kidney Transplantation

United States
Second Affiliated Hospital, School of Medicine,...

Unknown

The Pathophysiology of Tourette Syndrome: a Multimodal Study (PTS)

Tourette Syndrome

China
Penn State University

Withdrawn

C1-INH Compared to Placebo at the Time of Prodromal Symptoms for Hereditary Angioedema (HAE) Exacerbation

Hereditary Angioedema
University Hospital Muenster

Completed

Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome (IZKF-CRA03-09)

Klinefelter Syndrome, Hypogonadism
Pharming Technologies B.V.
University of Wisconsin, Madison

Withdrawn

Recombinant Human C1 Inhibitor for the Treatment of Early Antibody-Mediated Rejection in Renal Transplantation

Kidney Transplantation | Graft Rejection

United States
Centre Hospitalier Sud Francilien

Not yet recruiting

Infectious and Non-infectious Lower Respiratory Diseases in Children With Down Syndrome Followed in Pediatric Pulmonology Consultations in Ile-de-France (ARBT21)

Down Syndrome

France
University of Kansas Medical Center

Not yet recruiting

Brain Outcomes With Lifestyle Change in Down Syndrome (BOLD)

Obesity | Alzheimer Disease | Down Syndrome

United States
Takeda

Recruiting

A Study to Review the Treatment and Outcomes of Teenagers and Adults With Non-histaminergic Angioedema With Normal C1 Inhibitor in Canada (PROSPECT)

Angioedema | Hereditary Angioedema (HAE)

Canada
Takeda

Recruiting

A Study in Adults With Hereditary Angioedema (HAE) Who Currently Receive Icatibant at Home

Hereditary Angioedema (HAE)

United Kingdom
Shire
Takeda Development Center Americas, Inc.

No longer available

Expanded Access for the Prevention of Acute Attacks of 1) Hereditary Angioedema (HAE) in Children and 2) Non-histaminergic Angioedema With Normal C1-Inhibitor (C1-INH) in Teenagers and Adults

Angioedema | Hereditary Angioedema (HAE)

United States, Canada, Germany, Hungary, Spain
Istituto Ortopedico Rizzoli

Completed

Height, Ulnar Length and Forearm Function in Multiple Hereditary Exostoses

Exostoses, Multiple Hereditary

Italy
BioCryst Pharmaceuticals

Completed

A Long Term Safety Study of BCX7353 in Hereditary Angioedema (APeX-S)

Hereditary Angioedema | Prophylaxis | HAE

Austria, Denmark, France, Germany, Hungary, Israel, Italy, North Macedonia, Poland, Switzerland, United Kingdom, United States, Australia, Hong Kong, Korea, Republic of, New Zealand, Serbia, Slovakia, South Africa, Spain
Shire

Completed

Efficacy and Safety of Lanadelumab (SHP643) in Japanese Participants With Hereditary Angioedema (HAE)

Hereditary Angioedema (HAE)

Japan
Shire

Completed

A Pharmacokinetic, Tolerability and Safety Study of Icatibant in Children and Adolescents With Hereditary Angioedema

Hereditary Angioedema (HAE)

United States, Canada, Australia, Austria, Colombia, Germany, Hungary, Israel, Italy, Spain
Shire

Completed

Safety and Efficacy Study of Repeated Doses of DX-88 (Ecallantide) to Treat Attacks of Hereditary Angioedema (HAE)

Hereditary Angioedema (HAE)

United States, Canada, Jordan
Shire

Completed

Observational Safety Study for KALBITOR (Ecallantide) in the Treatment of Acute Attacks of Hereditary Angioedema

Hereditary Angioedema (HAE)

United States
Shire

Completed

Phase 1 Study to Assess the Safety, Tolerability, and Pharmacokinetics of Recombinant Human C1 Esterase Inhibitor in Healthy Adult Subjects

Hereditary Angioedema (HAE)

United States
Shire

Completed

Study of C1 Inhibitor (Human) for the Prevention of Angioedema Attacks and Treatment of Breakthrough Attacks in Japanese Subjects With Hereditary Angioedema (HAE)

Hereditary Angioedema (HAE)

Japan
Shire

Completed

EDEMA2: Evaluation of DX-88's Effect in Mitigating Angioedema

Hereditary Angioedema (HAE)
Shire
Dyax Corp.

Completed

A Single Increasing Dose Study to Assess Safety and Tolerability of DX-2930 in Healthy Subjects

Hereditary Angioedema (HAE)

United States
Novo Nordisk A/S

Completed

Awareness, Care, and Treatment In Obesity Management of Patients With Hemophilia (ACTION) to Inform Hemophilia Obesity Patient Empowerment (HOPE) (ACTION to HOPE)

Haemophilia A, Haemophilia B, Obesity

United States
Pharming Technologies B.V.

Completed

A Study of the Safety and Immunogenicity of Repeated rhC1INH Administration (OPERA)

Hereditary Angioedema | Genetic Disorders

Netherlands, Romania
Duke University
Foundation for Prader-Willi Research

Completed

Prader-Willi Syndrome Macronutrient Study

Childhood Obesity | Prader Willi Syndrome | Syndromic Obesity

United States, Canada
Pharming Technologies B.V.

Completed

Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema

Genetic Disorders

Netherlands
Pharming Technologies B.V.

Completed

Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema

Hereditary Angioedema | Angioneurotic Edema

Netherlands
Pharming Technologies B.V.

Completed

Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema

Hereditary Angioedema | Genetic Disorders | Angioneurotic Edema

Netherlands, Romania
University College Cork

Not yet recruiting

Assessment of Diastolic Function During the Transitional Period and Infancy Using Serial Echocardiography (DiFuSE)

Gestational Diabetes | Neonatal Encephalopathy | Diastolic Dysfunction | Trisomy 21 | Transient Tachypnea of the Newborn | Small for Gestational Age at Delivery

Ireland
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
University of California, San Diego
New York University; Heinrich-Heine University, Duesseldorf; Universität Tübingen

Recruiting

Natural History Study of Patients With HPDL Mutations

Genetic Disease | Mitochondrial Encephalomyopathies | Neonatal Encephalopathy | Mutation | Hereditary Spastic Paraplegia | White Matter Disease | Spastic Paraplegia

United States
Hereditary Neuropathy Foundation

Recruiting

Natural History Study for Charcot Marie Tooth Disease

Charcot-Marie-Tooth Disease | Charcot-Marie-Tooth Disease, Type IA | Charcot-Marie-Tooth Disease Type 2A | Charcot-Marie-Tooth | Charcot-Marie-Tooth Disease, Type IB | Charcot-Marie-Tooth Disease Type 2 | Charcot-Marie-Tooth Disease, Type 2C | Charcot-Marie-Tooth Disease Type 2A2B | Charcot-Marie-Tooth... and other conditions

United States
University of Minnesota

Recruiting

Natural History Study for DNA Repair Disorders

DNA Repair Disorder | Xeroderma Pigmentosum | Cockayne Syndrome | Trichothiodystrophy

United States
AC Immune SA
Worldwide Clinical Trials

Recruiting

A Study to Assess the Effects of ACI-24.060 in Alzheimer's Disease and in Down Syndrome (ABATE Study)

Alzheimer's Disease | Prodromal Alzheimer's Disease | Amyloid Plaque | Beta-Amyloid | Alzheimer's Disease in Down Syndrome

United States, Spain, United Kingdom
Assistance Publique - Hôpitaux de Paris
Centre National de la Recherche Scientifique, France

Completed

Acoustic and Perceptual Markers of Dysarthria in Amyotrophic Lateral Sclerosis (ALS) (SPEECH-ALS)

Amyotrophic Lateral Sclerosis | Primary Lateral Sclerosis | Kennedy's Disease

France
Fondation Ophtalmologique Adolphe de Rothschild

Terminated

Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated) (ATM)

Choroidal Neovascularization

France
Rabin Medical Center

Unknown

Ilaris (Canakinumab) in Patient With Periodic Fever, Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA)

Periodic Fever

Israel
Rabin Medical Center

Unknown

Prostate Cancer Screening Among Men With High Risk Genetic Predisposition

Lynch Syndrome | BRCA1 Syndrome | BRCA2 Syndrome

Israel
Heidelberg University
Charite University, Berlin, Germany; University of Kiel; Ludwig-Maximilians -... and other collaborators

Unknown

German Centre for Cardiovascular Research Cardiomyopathy Register (TORCH)

Amyloidosis | Acute Myocarditis | Dilated Cardiomyopathies | Hypertrophic Cardiomyopathies | Left Ventricular Myocardial Noncompaction Cardiomyopathy | Arrhythmogenic Right Ventricular Cardiomyopathies

Germany
Grifols Therapeutics LLC

Completed

Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients

Common Variable Immunodeficiency | Severe Combined Immunodeficiency | Wiskott-Aldrich Syndrome | Agammaglobulinemia | Immunologic Deficiency Syndrome

Canada, United States
National Center for Research Resources (NCRR)
Ohio State University

Completed

Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease

Amyotrophic Lateral Sclerosis | Spinal Muscular Atrophy | Spinobulbar Muscular Atrophy

Clinical Trials on Fructose Metabolism, Inborn Errors

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Bahamas

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations