Clinical Trials on Genetic Diseases, Inborn in Ireland

Total 8089 results

Children's University Hospital, Ireland
University College Dublin; Health Research Board, Ireland; Medical Research Charities...

Completed

Glycosylation in Patients With Galactosaemia

Classical Galactosaemia

Ireland
Astellas Pharma Inc

Completed

Distribution of Tacrolimus in Skin, Atopic Dermatitis

Dermatitis, Atopic

Ireland
DS Biopharma

Completed

Efficacy and Steroid Sparing Potential Study of DGLA Cream in Early Childhood Patients With Moderate to Severe Atopic Dermatitis

Atopic Dermatitis

Ireland
University College Cork

Completed

Short-term Topical Application to Prevent Atopic Dermatitis (STOP AD)

Eczema | Food Allergy | Eczema, Infantile | Eczema Atopic Dermatitis

Ireland
Women and Infants Hospital of Rhode Island

Completed

Effect of Video Education on Patients' Knowledge and Attitudes of Privacy in Prenatal Genetics

Pregnancy Related | Aneuploidy | Genetic Disease

United States
St. James's Hospital, Ireland
University of Dublin, Trinity College; Science Foundation Ireland

Recruiting

The Role Of Neutrophil Proteases As Global Regulators Of Il-1 Family Cytokine Activity In Skin Disorders (NEUTROPRO)

Atopic Dermatitis | Psoriasis Vulgaris | Ichthyosis Vulgaris

Ireland
Queen's University, Belfast
University of Sussex

Unknown

Visual Performance Measures in a Virtual Reality Environment for Assessing Clinical Trial Outcomes in Those With Severely Reduced Vision

Retinitis Pigmentosa | Low Vision | Albinism | Stargardt Disease 1 | Stargardt Disease 3 | Stargardt Disease 4

United Kingdom
University College Dublin
National Children's Research Centre; Our Lady's Children's Hospital, Crumlin

Completed

Intranasal Fentanyl Versus Intravenous Morphine in the Treatment of Severe Painful Sickle Cell Crises in Children

Pain | Sickle Cell Disease

Ireland
University College Cork
Wellcome Trust; Health Research Board, Ireland; Health Service Executive, Ireland

Recruiting

Assessing SleeP IN Infants With Atopic Dermatitis by Longitudinal Evaluation (SPINDLE)

Sleep Disturbance | Atopic Dermatitis

Ireland
University of Limerick

Unknown

Steps Ahead: Optimising Physical Activity and Health in Adults With Cystic Fibrosis

Cystic Fibrosis

Ireland
University College Cork
Assistance Publique - Hôpitaux de Paris; KU Leuven; University of Washington; Queen... and other collaborators

Completed

Cystic Fibrosis Microbiome-determined Antibiotic Therapy Trial in Exacerbations: Results Stratified (CFMATTERS)

Cystic Fibrosis

Ireland
QLT Inc.

Completed

Oral QLT091001 in Retinitis Pigmentosa (RP) Subjects With an Autosomal Dominant Mutation in Retinal Pigment Epithelial 65 Protein (RPE65)

Retinitis Pigmentosa (RP)

Canada, Ireland
Astellas Pharma Inc

Completed

Tacrolimus Ointment Long Term Safety in Young Children With Atopic Dermatitis

Dermatitis, Atopic

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

Completed

Tacrolimus Ointment Pharmacokinetics in Infants With Atopic Dermatitis

Dermatitis, Atopic

United Kingdom, Finland, Ireland, Canada, Latvia
NYU Langone Health
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Completed

Health-related Quality of Life in Rare Kidney Stone

Cystinuria | Primary Hyperoxaluria | Dent Disease | Adenine Phosphoribosyl Transferase Deficiency

United States, Iceland
Alexion Pharmaceuticals

Completed

Extension Study of Protocol ENB-002-08 - Study of Asfotase Alfa in Infants and Young Children With Hypophosphatasia (HPP)

Hypophosphatasia

United States, United Arab Emirates, United Kingdom
St. James's Hospital, Ireland
Baxter BioScience

Unknown

Subclinical Joint Bleeding in Irish Adults With Severe Haemophilia A on Personalised Prophylaxis Regimens (PERSONAL)

Severe Haemophilia A

Ireland
Mayo Clinic
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National... and other collaborators

Recruiting

Rare Kidney Stone Consortium Patient Registry (RKSC)

Cystinuria | Primary Hyperoxaluria | Dent Disease | APRT Deficiency

United States, Iceland
Rocket Pharmaceuticals Inc.

Completed

Natural History of Danon Disease

Danon Disease

Ireland, Czechia, France, Italy, Spain
IRCCS Fondazione Stella Maris
Azienda USL Toscana Nord Ovest; University of Dublin, Trinity College; Meyer...

Recruiting

Biomarkers in Rett Syndrome (BIRS)

Rett Syndrome

Italy, Ireland
Pulmatrix Inc.
Celerion

Completed

A Safety and Tolerability Study OF PUR118 In Subjects With Cystic Fibrosis

Cystic Fibrosis

United Kingdom
AlgiPharma AS

Completed

A Cross-over Study of OligoG in Subjects With Cystic Fibrosis. Fibrosis (OligoG)

Cystic Fibrosis

United Kingdom, Ireland
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
Ardea Biosciences, Inc.

Completed

Phase 2a RDEA3170 and Allopurinol Combination Study in Gout Subjects

Gout

United States
Horizon Therapeutics Ireland DAC

Completed

Study of Pegloticase (KRYSTEXXA®) Plus Methotrexate in Patients With Uncontrolled Gout (MIRROR OL)

Gout

United States
Children's Health Ireland
Queen's University, Belfast; Cystic Fibrosis Foundation; European Cystic Fibrosis...

Active, not recruiting

COVID-19 Antibody Responses in Cystic Fibrosis (CAR-CF)

COVID-19 | Cystic Fibrosis

Ireland
Clinuvel Pharmaceuticals Limited

Completed

Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP)

Erythropoietic Protoporphyria

Netherlands, Finland, France, Germany, Ireland, United Kingdom
Celtaxsys, Inc.
Celerion

Completed

Phase 1 Study Assessing the Safety and Tolerability of CTX-4430 in Cystic Fibrosis Patients

Cystic Fibrosis

United Kingdom
University College, London

Terminated

A Factor IX Gene Therapy Study (FIX-GT) (FIX-GT)

Hemophilia B

Ireland, United Kingdom, Italy, United States
Novartis Pharmaceuticals

Completed

Efficacy and Safety Study of ACZ885 in Patients With Active Recurrent or Chronic TNF-receptor Associated Periodic Syndrome (TRAPS).

TNF-receptor Associated Periodic Syndromes (TRAPS)

United Kingdom, Ireland, Italy
Travere Therapeutics, Inc.

Recruiting

Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)

Homocystinuria Due to CBS Deficiency

Ireland, Qatar, United States, United Kingdom
Kyowa Kirin Pharmaceutical Development Ltd

Completed

Study of the Anti-FGF23 Antibody, Burosumab, in Adults With XLH

X-linked Hypophosphatemia

United Kingdom, France, Ireland, Italy
Shanton Pharma Co., Ltd.

Completed

Placebo Controlled, Dose Escalation Study to Evaluate Safety, Pharmacokinetics & Efficacy of SAP-001 in Gout Patients

Gout, Hyperuricemia

United States
Arrowhead Pharmaceuticals

Withdrawn

Safety, Tolerability and Effect of ARC-AAT Injection on Circulating and Intrahepatic Alpha-1 Antitrypsin Levels

Alpha-1 Antitrypsin Deficiency

Ireland, Canada, Italy, Sweden
TESS Research Foundation
Brown University; Stanford University; University of Texas Southwestern Medical...

Recruiting

SLC13A5 Deficiency Natural History Study - United States Only

Epilepsy | Movement Disorders | Rare Diseases | Genetic Disorder | Citrate Transporter Deficiency | SLC13A5 Deficiency | EIEE25 | Kohlschutter-Tonz Syndrome (Non-ROGDI) | Citrate Transporter Disorder | DEE25

United States
Revive Therapeutics, Ltd.

Unknown

Bucillamine Phase 2 Trial in Patients With Cystinuria

Cystinuria

United States
Agios Pharmaceuticals, Inc.

Completed

A Study Evaluating the Efficacy and Safety of AG-348 in Regularly Transfused Adult Participants With Pyruvate Kinase Deficiency (PKD)

Anemia, Hemolytic | Pyruvate Kinase Deficiency

United States, United Kingdom, Netherlands, Canada, Denmark, France, Italy, Ireland, Thailand
Alexion Pharmaceuticals

Completed

Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of Sebelipase Alfa in Children With Growth Failure Due to Lysosomal Acid Lipase Deficiency

Wolman Disease | Lysosomal Acid Lipase Deficiency

United Kingdom, France, United States, Egypt, Ireland
Applied Genetic Technologies Corp
National Heart, Lung, and Blood Institute (NHLBI)

Completed

Safety & Efficacy Study of rAAV1-CB-hAAT for Alpha-1 Antitrypsin Deficiency

Alpha-1 Antitrypsin Deficiency

United States, Ireland
BioMarin Pharmaceutical

Terminated

Safety and Exercise Study of Two Doses of BMN 110 for Morquio A Syndrome

Morquio A Syndrome | MPS IVA | Mucopolysaccharidosis IVA

United States, United Kingdom, Canada, Germany
GenEmbryomics Pty. Ltd

Recruiting

Whole Genome Sequencing (WGS) on IVF Embryos and Individual Patients (EmbryoWGS)

Fertility Issues | Single-Gene Defects

United States, Turkey
Mayo Clinic

Recruiting

Prospective Research Rare Kidney Stones (ProRKS) (ProRKS)

Cystinuria | Hyperoxaluria | Dent Disease | Lowe Syndrome | Adenine Phosphoribosyltransferase Deficiency

United States, Canada, Iceland, Israel
Royal College of Surgeons, Ireland
The Hospital for Sick Children; Imperial College London; Erasmus Medical Center; University College Dublin and other collaborators

Active, not recruiting

Real World Clinical Outcomes With Novel Modulator Therapy Combinations in People With CF (RECOVER) (RECOVER)

Cystic Fibrosis | Adherence, Medication | Cystic Fibrosis Gastrointestinal Disease | Cystic Fibrosis in Children | Cystic Fibrosis Liver Disease

United Kingdom, Ireland
Amgen

Active, not recruiting

Study to Investigate the Effect of Rocatinlimab (AMG 451) on the Pharmacokinetics of Multiple Cytochrome P450 (CYP450) Substrates in Participants With Moderate to Severe Atopic Dermatitis

Atopic Dermatitis

United States
Ionis Pharmaceuticals, Inc.

Completed

A Phase 1/2a Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Single and Multiple Doses of IONIS-ENaCRx in Healthy Volunteers and Patients With Cystic Fibrosis

Cystic Fibrosis | Healthy Subjects

United Kingdom, Germany
Nationwide Children's Hospital
National Heart, Lung, and Blood Institute (NHLBI); National Institutes of Health... and other collaborators

Not yet recruiting

Applying Directly Observed Therapy to Hydroxyurea to Realize Effectiveness (ADHERE)

Sickle Cell Disease

United States
CENTOGENE GmbH Rostock
Shire Human Genetic Therapies, Inc.

Completed

Stroke in Young Fabry Patients (sifap1): Frequency of Fabry Disease in Young Stroke Patients (sifap1)

Cerebrovascular Accident

Austria, Belgium, Croatia, Finland, France, Georgia, Germany, Ireland, Italy, Malta, Poland, Portugal, Spain, United Kingdom
Fougera Pharmaceuticals Inc.

Completed

Study to Evaluate Effect of Pandel Cream 0.1% on HPA Axis in Pediatric and Adult Population

Psoriasis | Atopic Dermatitis

United States
Pharmaxis

Completed

Long Term Administration of Inhaled Dry Powder Mannitol In Cystic Fibrosis - A Safety and Efficacy Study

Cystic Fibrosis

Ireland, United Kingdom, Australia
Swedish Orphan Biovitrum
Cerner Enviza

Active, not recruiting

An International Study to Evaluate the Real-world Effectiveness and Usage of Alprolix in Patients With Haemophilia B (B-MORE)

Hemophilia B

Czechia, Greece, Ireland, Italy, Norway, Saudi Arabia, Spain, Sweden, United Kingdom

Clinical Trials on Genetic Diseases, Inborn in Ireland

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