Clinical Trials on Amino Acid Metabolism, Inborn Errors

Total 4793 results

Alexion Pharmaceuticals

Completed

Safety and Efficacy of Asfotase Alfa in Juvenile Patients With Hypophosphatasia (HPP)

Hypophosphatasia (HPP)

United States, Canada
Alexion Pharmaceuticals

Completed

Extension Study of Protocol ENB-006-09 - Study of Asfotase Alfa in Children With Hypophosphatasia (HPP)

Hypophosphatasia (HPP)

United States, Canada
US Department of Veterans Affairs

Withdrawn

Cholestanol in Humans

Cerebrotendinous Xanthomatosis

United States
Alexion Pharmaceuticals

Completed

Retrospective, Non-interventional Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP)

Hypophosphatasia (HPP)

United States, France, United Kingdom, Canada, Netherlands, Russian Federation, Turkey, Australia
Alexion Pharmaceuticals

Completed

Safety and Efficacy Study of Asfotase Alfa in Severely Affected Infants With Hypophosphatasia (HPP)

Hypophosphatasia (HPP)

United States, Canada, United Arab Emirates, United Kingdom
Novartis Pharmaceuticals

Terminated

Study to Evaluate the Efficacy and Safety of Deferasirox Film-coated Tablet Versus Phlebotomy in Patients With Hereditary Hemochromatosis (HH)

Hereditary Hemochromatosis

Belgium, France, Russian Federation, Romania, Slovakia, Spain, Switzerland
National Heart, Lung, and Blood Institute (NHLBI)

Completed

Cardiac Function in Patients With Hereditary Hemochromatosis

Hereditary Hemochromatosis

United States
Mirum Pharmaceuticals, Inc.

Completed

Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)

CTX

United States, Brazil
La Jolla Pharmaceutical Company
PRA Health Sciences

Completed

A Study of LJPC-401 for the Treatment of Iron Overload in Adult Patients With Hereditary Hemochromatosis

Hereditary Hemochromatosis

United States, Australia, France, United Kingdom
Novartis Pharmaceuticals

Completed

Observation of Patients With Transfusional Hemosiderosis Treatment With Deferasirox

Transfusional Hemosiderosis

Egypt, Spain, United Kingdom, Jordan
Daiichi Sankyo, Inc.

Completed

Study to Compare Welchol and TriCor to TriCor Alone in Patients With High Cholesterol

Hypercholesterolemia | Hyperlipidemia, Familial Combined

United States
Chong Kun Dang Pharmaceutical

Unknown

Efficacy and Safety of Fenofibrate Added on to Atorvastatin Compared With Atorvastatin

Mixed Hyperlipidemia

Korea, Republic of
Pfizer

Completed

A Study Comparing The Efficacy & Safety Of Torcetrapib/Atorvastatin And Atorvastatin In Subjects With High Triglycerides

Hypertriglyceridemia | Hyperlipoproteinemia Type IV

United States, Canada
San Filippo Neri General Hospital

Completed

Clinical Management of Hereditary Hemochromatosis: Phlebotomy vs. Erythrocytoapheresis

Hereditary Hemochromatosis

Italy
National Human Genome Research Institute (NHGRI)

Completed

Clinical and Pathophysiological Investigations Into Erdheim Chester Disease

Cancer | Myelofibrosis | Pulmonary Fibrosis | Gaucher Disease | Hermansky-Pudlak Syndrome (HPS)

United States
Sciotec Diagnostic Technologies GmbH
Austrian Research Promotion Agency

Completed

Efficacy of Fructose Metabolizing Enzymatic Product in Fructose Malabsorption

Fructose Malabsorption

Austria
Assistance Publique - Hôpitaux de Paris

Not yet recruiting

Prospective, Longitudinal, Observational Registry of Adult Patients With Hypophosphatasia (REG-HYPO) (REG-HYPO)

Hypophosphatasia

France
Manchester University NHS Foundation Trust
FDNA Inc.

Completed

Evaluating Face-Recognition Technology in Syndrome Diagnosis

Inborn Errors of Metabolism | Dysmorphic Features | Multiple Anomalies

United Kingdom
Wellstat Therapeutics

Completed

Open-Label Study of Uridine Triacetate in Pediatric Patients With Hereditary Orotic Aciduria

Hereditary Orotic Aciduria

United States
University of Roma La Sapienza
Alexion Pharmaceuticals

Recruiting

Lysosomal Acid Lipase Activity in Nonalcoholic Fatty Liver Disease (NAFLD LAL)

Non-Alcoholic Fatty Liver Disease

Italy
Children's Mercy Hospital Kansas City

Recruiting

Liver Adiposity Effects on Pediatric Statin

Cholesterol; Lipidosis

United States
Bond Biosciences

Terminated

A Study to Evaluate BBI-001 in Hereditary Haemochromatosis (HH) Patients and Iron Deficient Volunteers

Hereditary Hemochromatosis

Australia
Protagonist Therapeutics, Inc.

Completed

PTG-300 in Subjects With Hereditary Hemochromatosis

Hereditary Hemochromatosis

United States, Canada
Rennes University Hospital
Ministry of Health, France

Completed

Bone Status on Patients With Genetic Hemochromatosis: a 3 Years Descriptive and Evolutionary Study (FEROS)

Genetic Hemochromatosis

France
Novartis Pharmaceuticals

Completed

Safety and Efficacy of Deferasirox (ICL670) in Patients With Iron Overload Resulting From Hereditary Hemochromatosis

Iron Overload | Hereditary Hemochromatosis

United States, Germany, Italy, Australia, Canada, France
National Human Genome Research Institute (NHGRI)

Recruiting

Analysis of Specimens From Individuals With Pulmonary Fibrosis

Pulmonary Fibrosis | Healthy Volunteers | Hermansky-Pudlak Syndrome (HPS)

United States
Vanderbilt University
National Heart, Lung, and Blood Institute (NHLBI); University of South Florida and other collaborators

Completed

A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

Hermansky Pudlak Syndrome

United States
Jesse Roman
Genentech, Inc.

Unknown

Efficacy and Safety of Pirfenidone Treatment in HPS-ILD (PEARL)

Interstitial Lung Disease | Hermansky Pudlak Syndrome

United States, Puerto Rico
National Institute of Allergy and Infectious Diseases...

Withdrawn

Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome

Colitis | Cytokines | Hermanski-Pudlak Syndrome | Lymphocytes | Drug Evaluation

United States
Swiss Federal Institute of Technology
Instituto de Investigação em Imunologia

Completed

Inhibiting Dietary Iron Absorption in Subjects With Hereditary Hemochromatosis by a Natural Polyphenol Supplement

Iron Metabolism Disorders | Iron Overload | Polyphenols

Portugal, Switzerland
Jerry Vockley, MD, PhD
Acer Therapeutics Inc.

Recruiting

Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

Medium-chain Acyl-CoA Dehydrogenase Deficiency

United States
Cerenis Therapeutics, SA

Terminated

CER-001 Therapy as a Novel Approach to Treat Genetic Orphan Diseases (TANGO)

Familial Hypoalphalipoproteinemia

France, United States, Belgium, Canada, Israel, Italy, Netherlands
University Hospital, Lille

Completed

Respiratory Variations For Assessing Blood Withdrawal (ReVAs)

Genetic Hemochromatosis

France
Sanquin Research & Blood Bank Divisions
Radboud University Medical Center; Maastricht University Medical Center; Atrium... and other collaborators

Unknown

Erythrocytapheresis Versus Phlebotomy as Maintenance Therapy in Hereditary Hemochromatosis (HH) Patients

Hereditary Hemochromatosis

Netherlands
Peking University Third Hospital

Not yet recruiting

A Prospective Cohort Study on Familial Hypercholesterolemia in Health Examination Population

Familial Hypercholesterolemia
Organon and Co

Completed

A Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653H in Japanese Participants With Hypercholesterolemia (MK-0653H-833)

Hypercholesterolemia | Familial Hypercholesterolemia
Poudre Valley Health System

Enrolling by invitation

School-based Education and Screening Program With Lipid Screening as a Means to Identify Familial Hyperlipidemia

Familial Hyperlipidemia

United States
Merck Sharp & Dohme LLC

Active, not recruiting

A Study of MK-0616 (Oral PCSK9 Inhibitor) in Adults With Heterozygous Familial Hypercholesterolemia (MK-0616-017) CORALreef HeFH

Hypercholesterolemia | Familial Hypercholesterolemia

United States, Australia, Brazil, Canada, Chile, Colombia, Czechia, Finland, Hong Kong, Hungary, Israel, Netherlands, New Zealand, Norway, Singapore, Spain, Taiwan
Instituto de Seguridad y Servicios Sociales de...

Completed

Expression of Pro- and Anti-inflammatory Cytokines During Anti-PCSK9 in Familial Hypercholesterolemia (CytoEx-PCSK9)

Hypercholesterolemia, Familial

Mexico
University of Pennsylvania
Northwestern University; Family Heart Foundation

Enrolling by invitation

Improving Diagnosis and Clinical Management of Familial Hypercholesterolemia Through Integrated Machine Learning, Implementation Science, and Behavioral Economics (BEAT FH)

Familial Hypercholesterolemia

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

Enrolling by invitation

Collaborative Approach to Reach Everyone With Familial Hypercholesterolemia (CARE-FH) (CARE-FH)

Familial Hypercholesterolemia

United States
Poudre Valley Health System

Active, not recruiting

Familial Hyperlipidemia Family Registry

Familial Hyperlipidemia

United States
Interregionale Blutspende SRK

Enrolling by invitation

Quality and Biologic Characteristics of Red Blood Concentrates Obtained From Individuals With Elevated Ferritin.

Hereditary Hemochromatosis | Hyperferritinemia

Switzerland
Mayo Clinic
National Institutes of Health (NIH); National Human Genome Research Institute...

Completed

Return of Actionable Variants Empirical Study (RAVE)

Familial Hypercholesterolemia
Leadiant Biosciences Ltd.

Completed

Safety and Efficacy of CDCA in CTX Chenodeoxycholic Acid (CDCA) in Patients Affected by Cerebrotendinous Xanthomatosis (CTX)

Cerebrotendinous Xanthomatoses
Centre Hospitalier du Luxembourg
Luxembourg Institute of Health

Enrolling by invitation

Pilot Study for a National Screening for Familial Hypercholesterolemia (EARLIE)

Familial Hypercholesterolemia

Luxembourg
Organon and Co

Completed

Safety and Tolerability Study of Ezetimibe (SCH 058235/MK-0653) Plus Atorvastatin or Simvastatin in Homozygous Familial Hypercholesterolemia (P01417/MK-0653-019)

Hypercholesterolemia
Jiangsu HengRui Medicine Co., Ltd.

Unknown

A Study to Determine the Safety, Tolerability, and Efficacy of SHR-1209 in Patients With Familial Hypercholesterolemia

Familial Hypercholesterolemia
Imperial College London Diabetes Centre

Unknown

Genetic Causes of Hypercholesterolaemia in the Emirati Population

Familial Hypercholesterolemia

United Arab Emirates
Aegerion Pharmaceuticals, Inc.

Completed

Long Term, Follow-on Study of Lomitapide in Patients With Homozygous Familial Hypercholesterolemia

Familial Hypercholesterolemia

United States, Canada, Italy, South Africa

Clinical Trials on Amino Acid Metabolism, Inborn Errors

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