Clinical Trials on Genetic Diseases, Inborn in United Kingdom

Total 147788 results

Bio Products Laboratory

Completed

A Study to Investigate the Safety and Efficacy of Replenine®-VF in Haemophilia B Patients Undergoing Major Surgery.

Haemophilia B

United Kingdom
Novartis

Completed

Efficacy and Safety of a Single Dose of Canakinumab (ACZ885) in Hospitalized Patients With Acute Gout

Arthritis, Gouty

United States, Switzerland, United Kingdom
NHS Blood and Transplant
University of York; British Medical Research Council

Terminated

Transfusion Alternatives Pre-operatively in Sickle Cell Disease (TAPS) (TAPS)

Sickle Cell Disease

United Kingdom
Queen Mary University of London

Recruiting

Testing the Feasibility of a Novel Growth Monitoring Smartphone App

Growth Disorders | Short Stature

United Kingdom
OxThera

Terminated

An Extension Study to Evaluate the Long-term Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria (ePHex-OLE)

Hyperoxaluria, Primary

United Kingdom, Spain, Belgium, United States, Germany, Tunisia
Eli Lilly and Company
Daiichi Sankyo Co., Ltd.

Completed

An Assessment of Prasugrel on Healthy Adults and Sickle Cell Adults

Anemia, Sickle Cell

United Kingdom
Novo Nordisk A/S

Completed

Use of Somatropin in Turner Syndrome

Turner Syndrome | Genetic Disorder

United Kingdom
Genzyme, a Sanofi Company

Completed

Evaluate the Safety, Pharmacodynamics, Pharmacokinetics, and Exploratory Efficacy of GZ/SAR402671 in Treatment-naïve Adult Male Patients With Fabry Disease

Fabry Disease

France, Poland, United States, Russian Federation, United Kingdom
Birmingham Women's and Children's NHS Foundation...
University of Sheffield; Royal Manchester Children' s Hospital, Manchester

Completed

Whole Body Vibration Training in Children With Osteogenesis Imperfecta and Limited Mobility

Osteogenesis Imperfecta

United Kingdom
Amicus Therapeutics

Completed

Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years)

Fabry Disease

United Kingdom, United States
Amicus Therapeutics

Terminated

Open-label Long-term Safety Study of AT1001 (Migalastat Hydrochloride) in Participants With Fabry Disease Who Have Completed a Previous AT1001 Study

Fabry Disease

United Kingdom, United States, Australia, Brazil, France
Alexion Pharmaceuticals

Completed

A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP)

Hypophosphatasia (HPP)

United States, Taiwan, United Kingdom, Australia, Canada, Germany, Spain
BioMarin Pharmaceutical

Completed

Kuvan®'s Effect on the Cognition of Children With Phenylketonuria (KOGNITO)

Phenylketonuria

Italy, Spain, United Kingdom, Germany
Enterprise Therapeutics Ltd

Completed

A First in Human Study to Evaluate the Safety, Tolerability and Pharmacokinetics of Single and Multiple Ascending Doses of Inhaled ETD001 in Healthy Subjects

Cystic Fibrosis

United Kingdom
Vertex Pharmaceuticals Incorporated

Completed

A Study Evaluating Safety and Pharmacokinetics of VX-440 in Combination With Tezacaftor/Ivacaftor in Healthy Adult Subjects

Cystic Fibrosis

United Kingdom
Shire

Completed

Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)

Sanfilippo Syndrome Type B

United States, United Kingdom, Germany
University College, London
University College London Hospitals

Unknown

Origins and Impact of EDS in Connective Tissues and Skin

Ehlers-Danlos Syndrome

United Kingdom
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
Dicerna Pharmaceuticals, Inc.

Completed

Study to Evaluate Safety, Tolerability, PK and PD of DCR-PHXC in PH Type 3 Patients (PHYOX4)

Primary Hyperoxaluria Type 3

United States, Germany, Netherlands, United Kingdom
King's College London
Sickle Cell Society

Active, not recruiting

Patient and Public Involvement and Engagement in Research With Children and Young People With Sickle Cell Disorder and Their Families

Sickle Cell Disease

United Kingdom
Astellas Institute for Regenerative Medicine

Completed

Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (hESC-RPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD)

Stargardt's Macular Dystrophy

United Kingdom
Barts & The London NHS Trust
University College London Hospitals; Royal Brompton & Harefield NHS Foundation...

Completed

Bone Marrow Derived Adult Stem Cells for Dilated Cardiomyopathy (REGEN-DCM)

Dilated Cardiomyopathy

United Kingdom
University of Cambridge
Lund University; GE Healthcare; Cambridge University Hospitals NHS Foundation... and other collaborators

Recruiting

PET Imaging of Inflammation and Lipid Lowering Study (PIILL)

Atherosclerosis | Carotid Artery Plaque | Hypercholesterolemia | Hypercholesterolemia, Familial

United Kingdom
Moorfields Eye Hospital NHS Foundation Trust
Bayer

Completed

Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study (AMOUR)

Retinitis Pigmentosa | Macular Oedema

United Kingdom
Nicklaus Children's Hospital f/k/a Miami Children...
Rady Pediatric Genomics & Systems Medicine Institute

Recruiting

Diagnostic Odyssey: Whole Genome Sequencing (WGS)

Genetic Disease | Genetic Syndrome

United States
Alexion Pharmaceuticals, Inc.

Completed

Copper and Molybdenum Balance in Participants With Wilson Disease Treated With ALXN1840

Wilson Disease

United States, New Zealand, United Kingdom
Univar BV

Unknown

Study to Assess Long-Term Outcomes of Trientine in Wilson Disease Patients Withdrawn From Therapy With d-Penicillamine

Wilson Disease

United Kingdom, Germany, Greece, Italy
Institut National de la Santé Et de la Recherche...

Unknown

Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB) (RDEB)

Recessive Dystrophic Epidermolysis Bullosa

France, United Kingdom
Protalix
Chiesi Farmaceutici S.p.A.

Completed

Extension Study of PRX-102 for up to 60 Months

Fabry Disease

United States, Spain, United Kingdom, Paraguay
Astellas Pharma Inc

Completed

Tacrolimus Ointment Pharmacokinetics in Infants With Atopic Dermatitis

Dermatitis, Atopic

United Kingdom, Finland, Ireland, Canada, Latvia
Astellas Pharma Inc

Completed

Tacrolimus Ointment Long Term Safety in Young Children With Atopic Dermatitis

Dermatitis, Atopic

United Kingdom, Finland, Ireland, Canada, Latvia
Vitaflo International, Ltd

Recruiting

Evaluation of the Express Plus Range (express plus)

Phenylketonurias | PKU | Maple Syrup Urine Disease | Homocystinuria | Glutaric Acidemia I | Hereditary Tyrosinemia

United Kingdom
Aeglea Biotherapeutics

Completed

A Phase 1/2 Study of AEB1102 in Patients With Arginase I Deficiency

Arginase I Deficiency | Hyperargininemia

United States, Canada, United Kingdom, Portugal
Children's Mercy Hospital Kansas City

Completed

Genomic Sequencing in Acutely Ill Neonates (NSIGHT)

Genetic Disease | Diseases/Diagnoses

United States
University of Exeter

Withdrawn

Lipodystrophy and Fat Metabolism During Exercise (FAT)

Healthy | Lipodystrophy, Familial Partial

United Kingdom
Origin Biosciences

Completed

Study of ORGN001 (Formerly ALXN1101) in Neonates, Infants and Children With Molybdenum Cofactor Deficiency (MOCD) Type A

Molybdenum Cofactor Deficiency, Type A

United States, Spain, Israel, Norway, Turkey, United Kingdom
LEO Pharma

Completed

LEO19123 Cream in the Treatment of Atopic Dermatitis

Atopic Dermatitis

United Kingdom, Finland, Canada, Denmark
Great Ormond Street Hospital for Children NHS Foundation...

Unknown

Gene Therapy for X-linked Severe Combined Immunodeficiency (SCID-X1)

X-linked Severe Combined Immunodeficiency

United Kingdom
Cerenis Therapeutics, SA

Completed

Effect of CER-001 on Plaque Volume in Homozygous Familial Hypercholesterolemia (HoFH) Subjects (MODE)

Homozygous Familial Hypercholesterolemia

United States, Canada, Italy, Netherlands, United Kingdom
University College, London

Unknown

Cohort Research on Wilson's Disease (CROWD)

Wilson's Disease

United Kingdom
Hampshire Hospitals NHS Foundation Trust

Completed

National Study of a Pharmacokinetic-Focused Educational Package for Patients With Severe Haemophilia A (UK-PK)

Hemophilia A

United Kingdom
Baxalta now part of Shire

Terminated

First-in-Human and Proof-of-Mechanism Study of ARC19499 Administered to Hemophilia Patients

Hemophilia

United Kingdom
Royal Free Hospital NHS Foundation Trust

Unknown

Inter Individual Variability in Initiation Pathway Activation and Regulation and Phenotypic Heterogeneity in Patients With Haemophilia A and B (InPath)

Haemophilia

United Kingdom
Agios Pharmaceuticals, Inc.

Terminated

Pyruvate Kinase (PK) Deficiency Global Longitudinal Registry: Patient-Reported Outcomes (PRO) (PKD)

Anemia | Anemia, Hemolytic | Pyruvate Kinase Deficiency | Pyruvate Kinase Deficiency Anemia

United States, United Kingdom, Italy, Spain, Netherlands
Astellas Gene Therapies

Recruiting

Gene Transfer Study in Patients With Late Onset Pompe Disease (FORTIS)

Pompe Disease (Late-onset)

United States, United Kingdom
University of Oxford
Hoffmann-La Roche; Foundation for Angelman Syndrome Therapeutics UK

Recruiting

Angelman Syndrome Natural History Study-FAST UK

Angelman Syndrome

United Kingdom
Institute of Cancer Research, United Kingdom
Cancer Research UK; National Institute for Health Research, United Kingdom

Completed

Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome (SIGNIFY)

Li-Fraumeni Syndrome

United Kingdom
Cardiff University
National Institute for Social Care and Health Research

Completed

Prostaglandin F2-alpha Eye Drops in Thyroid Eye Disease (Bima Study) (BIMA)

Graves' Ophthalmopathy

United Kingdom
Allievex Corporation

Enrolling by invitation

Safety, Tolerability and Efficacy of ICV AX 250 Treatment in MPS IIIB -OLE

MPS III B

United States, Germany, Turkey, United Kingdom, Colombia
Genzyme, a Sanofi Company
BioMarin/Genzyme LLC

Completed

A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old

Mucopolysaccharidosis I | Scheie Syndrome | Hurler Syndrome | Hurler-Scheie Syndrome

Netherlands, France, Germany, United Kingdom

Clinical Trials on Genetic Diseases, Inborn in United Kingdom

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