Search clinical trials for: Inborn errors

Total 15833 results

Rocket Pharmaceuticals Inc.

Not yet recruiting

Clinical Trial to Evaluate the Efficacy of Gene Therapy for Pyruvate Kinase Deficiency

Pyruvate Kinase Deficiency

Spain, United States
Leiden University Medical Center
The Dutch Brain Foundation (funding)

Not yet recruiting

Stimulating Amyloid Clearance in Cerebral Amyloid Angiopathy (Clear-Brain)

Cerebral Amyloid Angiopathy
AstraZeneca

Recruiting

Hereditary Transthyretin Amyloidosis Polyneuropathy in Patients With Carpal Tunnel Syndrome in Russia (LOCUS)

Carpal Tunnel Syndrome | Amyloidosis | Polyneuropathy | Hereditary Transthyretin Amyloidosis

Russian Federation
Jiangsu HengRui Medicine Co., Ltd.

Not yet recruiting

Clinical Trial of HR091506 Tablets in Treatment of Gout With Hyperuricemia in Adults

Gout With Hyperuricemia in Adults
Tisento Therapeutics

Not yet recruiting

A Phase 2b Study of Zagociguat in Patients With MELAS (PRIZM)

Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome)

United States, Australia, Italy, Germany, Canada, United Kingdom
Institute of Liver and Biliary Sciences, India

Recruiting

'Glycogen Storage Diseases (GSDs) in Indian Children- Establishing an Indian GSD (I-GSD) Registry' (I-GSD)

Glycogen Storage Diseases

India
Alnylam Pharmaceuticals

Recruiting

A Phase 2 Trial of ALN-APP in Patients With Cerebral Amyloid Angiopathy (cAPPricorn-1)

Cerebral Amyloid Angiopathy

Canada
GeneCradle Inc

Recruiting

Evaluation of the Safety and Efficacy of Late-onset Pompe Disease Gene Therapy Drug

Pompe Disease (Late-onset)

China
Laval University

Recruiting

Unravelling the Impact of Diet on Cardiovascular Health in Treated Heterozygous Familial Hypercholesterolemia.

Familial Hypercholesterolemia | Cholesterol, Elevated | Nutrition, Healthy

Canada
AstraZeneca

Recruiting

hATTR Polyneuropathy in Russia (PRIMER)

Hereditary Transthyretin Amyloidosis

Russian Federation
Fondazione SISA (Societa Italiana per lo Studio...

Recruiting

Lipid Transport Disorder Italian Genetic Record (LIPIGEN) (LIPIGEN)

Familial Hypercholesterolemia | Genetic Disorder

Italy
Cliniques universitaires Saint-Luc- Université...

Recruiting

Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases (BUSARD)

Rare Diseases | Inborn Errors of Metabolism

Belgium
Alnylam Pharmaceuticals

Recruiting

Observational Study of Neurofilament Light Chain (NfL) as a Biomarker in Asymptomatic Carriers of the Transthyretin (TTR) Variants and Patients With Hereditary Transthyretin-mediated (hATTR) Amyloidosis With Polyneuropathy

Hereditary Amyloidosis, Transthyretin-Related | Asymptomatic Carrier State

France
John Paul II Hospital, Krakow

Recruiting

New Biomarkers and Plasma Prothrombotic Potential in Cardiac Transthyretin Amyloidosis

Transthyretin Amyloidosis

Poland
Fondation Ophtalmologique Adolphe de Rothschild

Not yet recruiting

Functional Impairment in Albinism (PLAIB)

Albinism, Ocular
AstraZeneca

Recruiting

Transthyretin Amyloidosis Cardiomyopathy in Patients With HFpEF in Russia (TETRAMER)

Transthyretin Amyloidosis Cardiomyopathy, Heart Failure With Preserved Ejection Fraction

Russian Federation
Jirair Krikor Bedoyan
Ultragenyx Pharmaceutical Inc

Recruiting

Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency

Pyruvate Dehydrogenase Complex Deficiency

United States
Rigshospitalet, Denmark

Not yet recruiting

Evaluating the Efficacy and Safety of Large Neutral Amino Acids in the Treatment of Classical Phenylketonuria

Brain Diseases | Genetic Diseases, Inborn | Metabolism, Inborn Errors | Brain Diseases, Metabolic | Phenylketonurias | Brain Diseases, Metabolic, Inborn | Amino Acid Metabolism, Inborn Errors | Metabolic Disease

Denmark
Medical University of Vienna
University of Vienna; Griffith University

Recruiting

Brown Adipose Tissue Activity in Gilbert's Syndrome

Gilbert Syndrome

Austria
NGGT (Suzhou) Biotechnology Co., Ltd.

Not yet recruiting

AAV Gene Therapy Clinical Study in Adult Classic PKU

Phenylketonurias
Lundquist Institute for Biomedical Innovation at...

Not yet recruiting

Study of Cannabidiol in Sanfilippo Syndrome

Mucopolysaccharidosis III | Sanfilippo Syndrome

United States
Maastricht University Medical Center

Recruiting

Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling

Quality of Life | Tuberous Sclerosis | Basal Cell Nevus Syndrome | Cutis Laxa | Epidermolysis Bullosa | Ichthyosis | Ectodermal Dysplasia | Albinism | Birt-Hogg-Dube Syndrome | Palmoplantar Keratoses

Netherlands
Hospital do Coracao
University of Sao Paulo; Instituto Dante Pazzanese de Cardiologia; National Institute...

Not yet recruiting

An Adapted Brazilian Cardioprotective Diet, Phytosterols and Krill Oil in Familial Hypercholesterolemia (DICA-FH) (DICA-FH)

Familial Hypercholesterolemia
Chiesi Farmaceutici S.p.A.
ICON plc

Not yet recruiting

A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease (FLY)

Fabry Disease
Caroline Michaela Kistorp
Sanofi

Not yet recruiting

Fibrosis, Inflammation, Oxygenation of Renal Tissue In FabrY Disease (FORTIFY)

Chronic Kidney Diseases | Fabry Disease

Denmark
National Taiwan University Hospital

Recruiting

The Natural History of Sialidosis Type I

Observational Study

Taiwan
Forge Biologics, Inc

Not yet recruiting

Long-term Follow-up Study to Evaluate Safety and Efficacy of FBX-101 in Krabbe Patients

Krabbe Disease

United States
BioMarin Pharmaceutical

Recruiting

A Long Term, Post-marketing Study of Immune Response in Patients Receiving Palynziq Treatment for PKU (PALisade)

Phenylketonuria (PKU)

United States
PTC Therapeutics

Recruiting

A Study of Sepiapterin in Participants With Phenylketonuria (PKU) (EPIPHENY)

Phenylketonuria

United States
Shanghai Institute Of Biological Products
The First Affiliated Hospital of Henan University of Science and Technology; First Affiliated Hospital Bengbu Medical College and other collaborators

Recruiting

A Phase Ib Clinical Trial of Peguricase for Injection With Methotrexate in Patients With Uncontrolled Gout.

Gout

China
metaX Institut fuer Diatetik GmbH
Great Ormond Street Hospital for Children NHS Foundation Trust; Birmingham...

Not yet recruiting

Acceptability/Tolerance of Protein Substitutes in Tablet Form for the Dietary Management of Rare Aminoacidopathies (ZeroMinisMR)

Alkaptonuria | Homocystine; Metabolic Disorder | Tyrosinemia, Type I | Tyrosinemia, Type II | Tyrosinemia, Type III | MSUD (Maple Syrup Urine Disease)
Suzhou Municipal Hospital

Not yet recruiting

Safety and Efficacy Study of NGGT006 in Refractory Hypercholesterolemia Patients

Familial Hypercholesterolemia | Refractory Hypercholesterolemia
Steen Hvitfeldt Poulsen
Novo Nordisk A/S

Recruiting

Phenotyping and Characterization of wtATTR-CM (TRACE 1)

Quality of Life | Transthyretin Amyloidosis | Transthyretin Amyloid Cardiomyopathy | Wild-Type Transthyretin-Related (ATTR)Amyloidosis

Denmark
Ondokuz Mayıs University

Recruiting

The Effect of Kegel Exercise and Ba Duan Jin Applications on Premenopausal Women With Urinary Incontinence

Quality of Life | Urinary Incontinence | Menopause | Wolman Disease | Psychological Well-Being

Turkey
Assistance Publique - Hôpitaux de Paris

Not yet recruiting

Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience. (ANNPHE)

Phenylketonuria

France
Novilla Pharmaceuticals

Not yet recruiting

Treatment of Topical Ketorolac Gel in Acute Gouty Flare

Acute Pain | Gout Flare | Acute Gouty Arthritis

Australia
Novartis Pharmaceuticals

Recruiting

Specified Drug-use Survey of Leqvio for s.c. Injection.

Hypercholesterolaemia | Familial Hypercholesterolaemia

Japan
Xinhua Hospital, Shanghai Jiao Tong University...
Shanghai Vitalgen BioPharma Co., Ltd.

Recruiting

An Exploratory Clinical Trial of VGN-R08b in Patients With Type II Gaucher Disease

Type II Gaucher Disease

China
Sunshine Guojian Pharmaceutical (Shanghai) Co.,...

Recruiting

A Study of SSGJ-613 in Gout Subjects Initiating Urate-Lowering Treatment.

Gout Arthritis

China
UniQure Biopharma B.V.

Recruiting

Safety, PK/PD, and Exploratory Efficacy Study of AMT-191 in Classic Fabry Disease

Fabry Disease

United States
S.LAB (SOLOWAYS)
Center of New Medical Technologies

Recruiting

Evaluation of a Genetically Determined Personalized Approach in Prescribing Biologically Active Substances in Patients With Elevated Blood Homocysteine Levels. (PERBIO-HC)

Hyperhomocysteinemia

Russian Federation
Leadiant Biosciences, Inc.

Not yet recruiting

A Study of Chenodeoxycholic Acid (CDCA) in Newly Diagnosed Participants With Cerebrotendinous Xanthomatosis (CTX)

Cerebrotendinous Xanthomatoses
Brunel University
Royal Free Hospital NHS Foundation Trust

Recruiting

A Co-designed Physical Activity Intervention in Fabry Disease

Fabry Disease

United Kingdom
Chung-Hsing Wang
Sanofi

Not yet recruiting

Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency

Gaucher Disease

Taiwan
iECURE, Inc.

Recruiting

An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency (OTC-HOPE)

Urea Cycle Disorders, Inborn | Ornithine Transcarbamylase Deficiency | Ornithine Transcarbamylase Deficiency Disease | Ornithine Carbamoyltransferase Deficiency (Disorder)

United Kingdom
Hospices Civils de Lyon

Not yet recruiting

Effect of Burosumab on the Inflammatory Profile of Patients With X-linked Hypophosphatemic Rickets FLAM-XLH (FLAM-XLH)

X-Linked Hypophosphatemic Rickets
Travere Therapeutics, Inc.

Recruiting

A Study to Investigate Efficacy and Safety of Pegtibatinase Compared With Placebo in Participants ≥12 to ≤65 Years of Age With Classical Homocystinuria (HCU) Due to Cystathionine Beta Synthase Deficiency Receiving Standard of Care Treatment (HARMONY)

Homocystinuria

United States
UNICANCER
Servier

Not yet recruiting

Safety of Trifluridine/Tipiracil in Patients With Dihydropyrimidine Dehydrogenase Deficiency Diagnosed With Metastatic Colorectal or Gastroesophageal Cancer (TRIFLUOX-DP)

Metastatic Colorectal Cancer | Metastatic Gastroesophageal Adenocarcinoma | DPD Deficiency
Amgen

Recruiting

A Trial to Investigate the Non-inferiority of Pegloticase Administered Every 4 Weeks (Q4W) With MTX Compared With Every 2 Weeks (Q2W) With MTX in Participants With Uncontrolled Refractory Gout

Gout

United States
Swedish Orphan Biovitrum

Recruiting

A Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in HT-1 Patients

Hereditary Tyrosinemia, Type I

China

Search clinical trials for: Inborn errors

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