Mercedes S. G.
- Country
- Spain
- Department
- 200: Pediatric Neurology
Research Overview
- Phase 3 Study to Evaluate the Efficacy and Safety of ION582 in Children and Adults with Angelman Syndrome
- Safety and Efficacy Evaluation of Intravenous GLM101 in Patients with PMM2-CDG: A Phase 2 Open-Label Extension Study
- Phase 2 Study on Pharmacodynamics, Safety, and Pharmacokinetics of GLM101 in PMM2-CDG Patients
Data & Insights
Has run more than one trial at 7 of 21 partner sites.
Specializations
Pediatric Neurology and Epilepsy
Clinical research activity includes pediatric neurology with a strong focus on epileptic encephalopathies, developmental disorders, and seizure-related conditions across childhood.
- Dravet syndrome
- Lennox-Gastaut syndrome
- Tuberous sclerosis complex
- Focal cortical dysplasia
- Rett syndrome
Therapeutic interest extends to neurologic symptom control, neurodevelopmental outcomes, and treatments for autism spectrum disorders and Angelman syndrome.
Autoimmune and Inflammatory Disease
The investigator is involved in trials addressing immune-mediated inflammatory diseases, especially those affecting the joints, skin, and gastrointestinal tract in children and adolescents.
- Juvenile idiopathic arthritis
- Atopic dermatitis
- Plaque psoriasis
- Crohn's disease
- Systemic lupus erythematosus
Research involvement also includes psoriatic arthritis, ulcerative colitis, and Behçet’s disease.
Pediatric Oncology and Hematology
Another major area of interest is pediatric oncology and hematologic malignancies, with attention to both leukemias and solid tumors in children and young adults.
- Acute lymphoblastic leukemia
- Acute myeloid leukemia
- Neuroblastoma
- Hodgkin lymphoma
- High-risk neuroblastoma
Trial involvement also covers atypical teratoid/rhabdoid tumour, glioma, Ewing sarcoma, and relapsed or refractory lymphomas.
Rare Genetic and Metabolic Disorders
The clinical portfolio includes rare genetic diseases and inborn errors of metabolism, with research spanning growth, neuromuscular, and lysosomal storage disorders.
- Duchenne muscular dystrophy
- Spinal muscular atrophy
- Friedreich ataxia
- Krabbe disease
- Mucopolysaccharidosis type II
Additional interest includes Prader-Willi syndrome, growth hormone deficiency, short stature, and methylmalonic acidemia.
Respiratory, Cardiovascular, and Infectious Diseases
Research activity also extends to respiratory disease, cardiovascular disorders, and pediatric infectious diseases, reflecting a broad therapeutic scope in medically complex childhood conditions.
- Asthma
- Pulmonary arterial hypertension
- Heart failure
- Respiratory syncytial virus infection
- Serious gram-negative bacterial infections
Trial involvement further includes pneumonia, COVID-19, and paroxysmal supraventricular tachycardia.
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