Metabolic and Pediatric Rare Diseases

At Instytut Matki I Dziecka in Warsaw, clinical research in nutritional and metabolic diseases focuses on inherited conditions such as phenylketonuria, PMM2-CDG, and related metabolism disorders. These studies are designed to test new treatment options, improve long-term disease control, and support better neurological outcomes in children.

  • New therapies for phenylketonuria and better control of blood phenylalanine levels
  • Treatments aimed at improving symptoms in PMM2-CDG
  • Research on preserving neurocognitive function in early childhood metabolic disease

The work combines treatment evaluation with efforts to understand how these disorders affect growth, development, and quality of life over time.

Hematology, Pregnancy, and Fetal Health

Research in female urogenital diseases and pregnancy complications includes studies on hemolytic disease of the fetus and newborn, fetal and neonatal alloimmune thrombocytopenia, and primary cytomegalovirus infection during pregnancy. These trials mainly aim to reduce fetal risk, prevent complications, and evaluate safer ways to protect both mother and baby.

  • Approaches to lower the risk of severe HDFN
  • Strategies to prevent or manage FNAIT
  • Studies on treating and preventing congenital infection linked to CMV

The site’s pregnancy-related research reflects a strong interest in improving prenatal care and outcomes in high-risk pregnancies.

Pediatric Oncology and Tumor Treatment

Clinical trials in neoplasms at this site address difficult childhood cancers, including Ewing’s sarcoma, osteosarcoma, primary bone tumors, and Langerhans cell histiocytosis. The main goal is to assess new or improved therapies that may help control disease, reduce relapse, and extend survival in young patients.

  • Testing treatment strategies for refractory Ewing’s sarcoma and osteosarcoma
  • Research on histiocytosis and Langerhans cell histiocytosis management
  • Evaluating whether targeted approaches can improve outcomes in resistant pediatric tumors

This area also includes efforts to link treatment response with tumor biology, helping shape more personalized care.

Neurology and Epilepsy Research

Studies in nervous system diseases focus on severe epilepsy syndromes such as Dravet syndrome and refractory partial onset epilepsy. The research is aimed at improving seizure control, assessing treatment effectiveness, and exploring better options for children and adults living with drug-resistant epilepsy.

  • New add-on treatments for Dravet syndrome
  • Comparing therapies for drug-resistant focal onset seizures
  • Efforts to improve seizure reduction and day-to-day functioning

These trials support the search for more effective and better-tolerated epilepsy treatments in pediatric neurology.

Diagnostic and Molecular Research

The site also conducts work in analytical, diagnostic and therapeutic techniques and equipment, with an emphasis on improving disease detection and monitoring in complex pediatric conditions. In addition to treatment studies, this includes imaging and molecular assessment to better define disease status and guide care.

  • Using PET/CT imaging to support assessment in histiocytosis
  • Exploring molecular characteristics linked to treatment response in pediatric tumors
  • Research that helps refine diagnosis and follow-up in rare childhood diseases

This diagnostic focus complements therapeutic trials by improving how clinicians identify disease patterns and monitor outcomes.