Search clinical trials for: Inborn Errors

Total 15908 results

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
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
Hospices Civils de Lyon

Recruiting

Retrospective and Prospective Follow-up of Patients With Primary Hyperoxaluria Type 1 Treated With Lumasiran in France. (DAILY-LUMA)

Patients With PH1 Treated With Lumasiran in France

France
University of Cambridge
Sanofi

Recruiting

Molecular Imaging in Fabry Disease of the Heart

Fabry Disease, Cardiac Variant

United Kingdom
bluebird bio
Center for International Blood and Marrow Transplant Research

Recruiting

A Study of Participants With Cerebral Adrenoleukodystrophy (CALD) Treated With Elivaldogene Autotemcel (Stargazer)

Cerebral Adrenoleukodystrophy (CALD)

United States
Shanghai Vitalgen BioPharma Co., Ltd.

Recruiting

A Study to Evaluate the Tolerability, Safety and Efficacy of VGM-R02b

Glutaric Acidemia Type I | Glutaric Aciduria Type I

China
University of Pennsylvania

Recruiting

LCAT (Lecithin Cholesterol Acyl Transferase) Natural History Study (LCAT NHS)

LCAT Deficiency

United States
Rocket Pharmaceuticals Inc.

Recruiting

Danon Disease Natural History Study

Danon Disease

United States, Germany
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
Diakonhjemmet Hospital

Recruiting

The Remote Monitoring of Gout Feasibility Study (ReMonit Gout)

Gout

Norway
Children's Hospital of Fudan University

Not yet recruiting

Evaluation of the Safety, Tolerability and Efficacy of a Gene Therapy Drug for the Treatment of Pediatric Fabry Disease

Fabry Disease

China
Thammasat University

Not yet recruiting

The Effects of Limb Elevation During Gout Flare Episodes

Gout Flare

Thailand
New York Stem Cell Foundation Research Institute

Recruiting

NYSCF Scientific Discovery Biobank

PTSD | Multiple Sclerosis | Cervical Cancer | Diabetes Mellitus, Type 2 | Diabetes Mellitus | Diabetes | Macular Degeneration | Diabetes Mellitus, Type 1 | Parkinson Disease | Amyotrophic Lateral Sclerosis | Dementia | Ovarian Cancer | Alzheimer Disease | ALS | Vulvar Cancer | Post Traumatic Stress Disorder | Lewy Body Disease and other conditions

United States
Kyowa Kirin Korea Co., Ltd.

Recruiting

Post Marketing Surveillance Study to Observe Safety and Effectiveness of CRYSVITA® in S. Korean Patients

FGF23-related Hypophosphataemic Rickets and Osteomalacia

Korea, Republic of
Federal Research Institute of Pediatric Hematology...

Recruiting

PTCy and and Ruxolitinib for GVHD Prophylaxis After HSCT With Thymoglobulin in Conditioning Regimen in Patients With Inborn Errors of Immunity

Inborn Errors of Immunity

Russian Federation
Grace Science, LLC

Recruiting

Safety and Efficacy of GS-100 Gene Therapy in Patients With NGLY1 Deficiency

NGLY1 Deficiency

United States
Hospital Affiliated to the Institute of Neurology...

Not yet recruiting

Clinical Value of DWI-ADC Matching in the Short-term Prognosis of Wilson's Disease

Hepatolenticular Degeneration; Wilson

China
Sanofi
Pulse Infoframe Ltd.

Recruiting

A Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD)

Niemann-Pick Diseases | Acid Sphingomyelinase Deficiency

United States
McGill University Health Centre/Research Institute...
Canadian Institutes of Health Research (CIHR)

Recruiting

Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder (ZSDvision)

Zellweger Spectrum Disorder

Canada
University of California, Los Angeles
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Not yet recruiting

UR+AIMS Gout Wearable Skin Uric Acid Monitor Study

Gout

United States
Chiesi Farmaceutici S.p.A.

Not yet recruiting

Analysis of Velmanase Alfa (Lamzede®)'s Effects in the Body of Children With Alpha-Mannosidosis Under the Age 3 (LAMPO(0-3))

Alpha-Mannosidosis
Denali Therapeutics Inc.

Recruiting

Study of DNL126 in Pediatric Participants With Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome Type A)

Mucopolysaccharidosis Type IIIA

United States
Huashan Hospital

Not yet recruiting

Evaluation of the Safety, Tolerability and Efficacy of Gene Therapy Drug for Late Onset Pompe Disease (LOPD)

Pompe Disease (Late-onset)

China
Assiut University

Not yet recruiting

Evaluation of Cognitive Dysfunction and Psychiatric Comorbidities

Wilson Disease
ETH Zurich
University of Zurich; Agroscope Liebefeld-Posieux Research Station ALP; Swiss...

Recruiting

Lactobreath: A Study to Diagnose Lactose Intolerance Using Breath Markers (Lactobreath)

Lactose Intolerance

Switzerland
Minoryx Therapeutics, S.L.

Recruiting

Disease Progression in Women With X-linked Adrenoleukodystrophy

X-linked Adrenoleukodystrophy

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

Not yet recruiting

A Study of Recombinant Anti-IL-1β Humanized Monoclonal Antibody Injection in Chinese Participants With Acute Gout

Acute Gout
Qilu Hospital of Shandong University

Recruiting

Screening Patients With Fabry Disease in Patients With Hypertrophic Cardiomyopathy or Left Ventricular Hypertrophy (SEARCH)

Fabry Disease | Hypertrophic Cardiomyopathy | Left Ventricular Hypertrophy

China
National Institute of Allergy and Infectious Diseases...

Recruiting

Detection and Characterization of Neurologic Manifestations of Inborn and Acquired Errors of Immunity

Nervous System Disease | Immune System Disease

United States
Verve Therapeutics, Inc.

Not yet recruiting

A Study of VERVE-102 in Patients With Familial Hypercholesterolemia or Premature Coronary Artery Disease

Heterozygous Familial Hypercholesterolemia | Premature Coronary Heart Disease
He Huang
Lingyi Biotech Co., Ltd.

Recruiting

A Study of the Safety and Preliminary Efficacy of LY-M001 Injection in the Treatment of Adult Patients With Gaucher Disease Type I (LY-M001)

Gaucher Disease Type I

China
National Institute for Mother and Child Health...
Marie Curie Emergency Children's Hospital, Bucharest; Victor Gomoiu Children...

Recruiting

Neutrophil Oxidative Burst in Early and Late Onset Pediatric Inflammatory Bowel Disease

Chronic Granulomatous Disease

Romania
University of Bonn

Recruiting

Characteristics of Hypophosphatasia in Adult Patients in Rheumatology (COHIR)

Hypophosphatasia

Germany
Astellas Gene Therapies

Recruiting

A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease

Pompe Disease (Late-onset)

United States, Spain, France, Taiwan, Italy
Orchard Therapeutics

Recruiting

A Study to Investigate the Efficacy and Safety of OTL-203 in Subjects With MPS-IH Compared With Standard of Care With Allogeneic HSCT (HURCULES)

MPS-IH (Hurler Syndrome)

Netherlands, United States, Italy, United Kingdom
Ionis Pharmaceuticals, Inc.

Recruiting

Orbit Study: A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Intrathecally Administered ION356 in Participants With Pelizaeus Merzbacher Disease (PMD)

Pelizaeus-Merzbacher Disease

France, Netherlands
ModernaTX, Inc.

Recruiting

A Dose-finding Study to Evaluate mRNA-3210 in Participants With Phenylketonuria

Phenylketonuria

United States, Australia
Jiangsu HengRui Medicine Co., Ltd.

Not yet recruiting

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

Gout With Hyperuricemia in Adults
Assistance Publique - Hôpitaux de Paris

Recruiting

Peripheral Serotonin and Albinism (SEPIAs)

Oculocutaneous Albinism

France
Azienda Ospedaliero-Universitaria di Modena

Recruiting

"Iron Overload and Endocrinological Diseases"

Iron Overload | Hemochromatosis | Thalassemia Major | Thalassemia Intermedia | Endocrinopathy

Italy
McMaster University

Not yet recruiting

Nutritional Therapy in Late-onset Pompe Disease (PDT-MIS)

Obesity | Lysosomal Storage Diseases | Muscle Loss | Glycogen Storage Disease Type II | Pompe Disease | Nutrition Poor | Glycogen Storage Disease Type II, Adult | Glycogen Storage Disease Type II Late Onset
Intellia Therapeutics
Regeneron Pharmaceuticals

Recruiting

MAGNITUDE: A Phase 3 Study of NTLA-2001 in Participants With Transthyretin Amyloidosis With Cardiomyopathy (ATTR-CM)

Transthyretin Amyloidosis (ATTR) With Cardiomyopathy

United States, Australia, United Kingdom, New Zealand, Canada

Search clinical trials for: Inborn Errors

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