Joanne H.
- Country
- Ireland
- Department
- Metabolic Medicine
Research Overview
- Phase 3b/4 Randomized, Double‑Blind, Placebo‑Controlled Study of Daily Subcutaneous Elamipretide in Genetically Confirmed Barth Syndrome Patients
- Evaluation of Long-Term Neurocognitive Outcomes in Pediatric Phenylketonuria Patients Treated with (S)-2-Amino-6-(2-Hydroxypropanoyl)-7,8-Dihydropteridin-4(3H)-one
Data & Insights
Has run more than one trial at 1 of 11 partner sites.
Specializations
Pediatric Inflammatory Bowel Disease
She focuses on therapeutic strategies for children with moderate to severe Ulcerative Colitis and Crohn’s Disease.
- Ulcerative Colitis
- Crohn’s Disease
- Biologic therapies
- Subcutaneous delivery
- Disease remission
Emphasis on improving quality of life and long‑term disease control in the pediatric population.
Hematology and Coagulation Disorders
Research includes management of inherited bleeding conditions such as Haemophilia A, Haemophilia B, and von Willebrand Disease.
- Haemophilia A
- Haemophilia B
- von Willebrand Disease
- Prophylactic factor replacement
- Joint health monitoring
Investigations aim to reduce bleeding episodes and preserve musculoskeletal function.
Metabolic and Rare Genetic Disorders
Investigations target metabolic diseases including Phenylketonuria, Classical Homocystinuria, CDKL5 Deficiency Disorder, and neurodegenerative conditions such as Friedreich’s Ataxia.
- Phenylketonuria
- Homocystinuria
- CDKL5 Deficiency
- Friedreich’s Ataxia
- Enzyme replacement
- Neurocognitive outcomes
Focus on early intervention to prevent disease progression and improve neurodevelopment.
Muscular and Skeletal Growth Disorders
Work includes therapeutic development for Duchenne Muscular Dystrophy and skeletal dysplasia such as Achondroplasia.
- Duchenne Muscular Dystrophy
- Achondroplasia
- Exon skipping
- Growth hormone analogues
- Bone health
Aims to enhance muscle function and normalize stature in affected children.
Pediatric Oncology and Solid Tumors
Clinical programs address malignancies like Acute Lymphoblastic Leukemia, Ependymoma, Low‑Grade Glioma, and hepatic tumors.
- Acute Lymphoblastic Leukemia
- Ependymoma
- Low‑Grade Glioma
- Hepatoblastoma
- Targeted therapies
- Immunotherapy
Efforts concentrate on increasing survival rates while minimizing long‑term sequelae.
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