Children's Health Ireland

The Department of Paediatric Neurodisability at Children’s Health Ireland is conducting studies that explore new antimicrobial and antifungal strategies to improve safety and effectiveness for children with serious infections.

• Evaluation of novel pediatric antimicrobial agents
• Antifungal prophylaxis in immunocompromised patients
• Pharmacokinetic profiling of age‑adjusted dosing regimens

Across its 37 active trials, the site leverages 33 investigators to advance therapeutic options for young patients facing bacterial and fungal challenges.

Research at Children’s Health Ireland focuses on heart failure and obstructive hypertrophic cardiomyopathy in children, aiming to enhance cardiac function and reduce disease‑related complications.

• Assessment of novel cardiac myosin inhibitors
• Long‑term safety of pediatric heart‑failure therapies
• Biomarker studies for early detection of cardiac dysfunction

The programme integrates multidisciplinary expertise to bring innovative cardiovascular care to pediatric patients.

Trials address rare genetic conditions such as Achondroplasia, PIK3CA‑Related Overgrowth Spectrum, CDKL5 deficiency disorder, classical homocystinuria and phenylketonuria, evaluating growth‑promoting agents and metabolic therapies.

• Growth‑factor therapy for short stature disorders
• Gene‑targeted treatments for metabolic abnormalities
• Safety monitoring of long‑term biologics in rare genetic diseases

By uniting genetics, endocrinology and neurology, the site supports families dealing with complex hereditary conditions.

The centre evaluates innovative approaches for chronic gastrointestinal disorders including ulcerative colitis, Crohn’s disease and cystic fibrosis, with an emphasis on biologic therapies and quality‑of‑life outcomes.

• Subcutaneous biologics for pediatric inflammatory bowel disease
• CFTR modulator efficacy and safety in children
• Patient‑reported outcome measures for chronic GI conditions

These studies seek to reduce disease activity and improve daily functioning for young patients.

Ongoing investigations target bleeding disorders such as haemophilia A and severe von Willebrand disease, as well as anemia associated with chronic kidney disease, focusing on extended‑half‑life factor products and novel anemia‑modifying agents.

• Extended‑half‑life factor replacement therapies
• Gene‑therapy approaches for hemophilia
• Roxadustat for pediatric CKD‑related anemia

The program integrates hematology and nephrology expertise to enhance hemostasis and red‑cell health in children.

Studies explore immune‑mediated conditions such as atopic dermatitis, peanut allergy, neutropenias and Langerhans Cell Histiocytosis, testing targeted cytokine blockers, oral immunotherapies and risk‑adapted treatment strategies.

• Cytokine blockade for moderate‑to‑severe eczema
• Oral immunotherapy protocols for food allergy
• Early‑intensification regimens for LCH with risk‑organ involvement

By focusing on immune regulation, the site aims to reduce disease burden and prevent long‑term sequelae.

Research on Duchenne Muscular Dystrophy, Friedreich’s ataxia and related neuromuscular disorders evaluates exon‑skipping, antioxidant and gene‑editing strategies to preserve muscle strength and motor function.

• Exon‑skipping therapies for dystrophin restoration
• Antioxidant treatment trials for Friedreich’s ataxia
• Functional outcome measures in pediatric neuromuscular trials

Multidisciplinary care teams support participants through rigorous safety and efficacy assessments.

The oncology portfolio includes acute lymphoblastic leukemia, ependymoma, low‑grade glioma, hepatoblastoma, rhabdomyosarcoma and other solid tumors, aiming to improve survival with targeted agents, immunotherapies and optimized radiotherapy.

• Novel immunotherapies for pediatric ALL
• Targeted kinase inhibitors for low‑grade glioma
• Combination chemotherapy regimens for solid tumors
• Radiotherapy optimization and central review of surgical margins

Collaborative trials leverage international networks to bring cutting‑edge cancer care to Irish children.

Focused investigations address neurodevelopmental and neurodegenerative disorders such as CDKL5 deficiency disorder, Friedreich’s ataxia and post‑treatment neurocognitive outcomes for brain tumors, seeking disease‑modifying therapies and supportive interventions.

• Gene‑therapy approaches for CDKL5‑related epilepsy
• Neuroprotective agents for mitochondrial ataxias
• Long‑term cognitive monitoring after tumor therapy

The department integrates neurology, genetics and rehabilitation to enhance neurodevelopmental trajectories.

Clinical work includes metabolic disorders such as phenylketonuria, classical homocystinuria and other inborn errors, evaluating enzyme replacement, cofactor supplementation and dietary strategies to maintain metabolic control.

• Sepiapterin therapy for PKU neurocognitive preservation
• Enzyme replacement for homocystinuria
• Metabolomic profiling to guide individualized treatment

These studies aim to reduce biochemical toxicity and improve growth and development.

Research on chronic respiratory conditions, notably cystic fibrosis, evaluates next‑generation CFTR modulators and strategies to limit pulmonary infections, with an emphasis on lung function preservation.

• Triple‑combination CFTR modulator efficacy in children
• Pulmonary function monitoring and imaging biomarkers
• Infection prevention protocols for chronic lung disease

Multidisciplinary pulmonology teams support comprehensive care for affected families.

Trials address dermatologic conditions such as atopic dermatitis and Epidermolysis Bullosa Simplex, testing topical anti‑inflammatory agents, barrier‑enhancing ointments and patient‑reported outcome tools.

• Topical corticosteroid‑sparing therapies for eczema
• Barrier‑restoring ointments for EB simplex
• Quality‑of‑life questionnaires for pediatric skin disease

Dermatology specialists work closely with families to reduce symptom burden and improve skin integrity.

The site’s metabolic research program investigates fundamental metabolic pathways affected by rare diseases and novel therapeutics, aiming to characterize safety profiles and long‑term physiological impact.

• Metabolomic profiling in rare genetic disorders
• Impact of emerging therapies on pediatric metabolism
• Long‑term safety assessment of metabolic modulators

Integrated laboratory and clinical expertise enables comprehensive evaluation of metabolic health in children.