THROMKIDplus Patient Registry and Biomaterial Banking for Children with Inherited Platelet Disorders

Area of Science:

• Pediatric Hematology
• Genetics
• Clinical Research

Background:

• Inherited platelet disorders (IPDs) encompass a range of quantitative and qualitative defects affecting platelet function.
• Understanding IPDs is crucial for improving patient diagnosis, treatment, and advancing translational research.
• A need exists for comprehensive data and biomaterial collection in pediatric IPD patients.

Purpose of the Study:

• To establish a multicenter patient registry and biomaterial bank for children with inherited platelet disorders.
• To facilitate translational research by collecting blood samples (smears, plasma, pellets, DNA) for future genetic and molecular studies.
• To enhance knowledge regarding the prevalence, pathogenesis, and clinical outcomes of IPDs in pediatric populations.

Main Methods:

• A retrospective-prospective, multicenter observational study design.
• Enrollment of patients aged 0-17 years diagnosed with or suspected of having IPDs.
• Data collection via the MARVIN platform, adhering to good clinical practice and data protection regulations.

Main Results:

• The THROMKIDplus registry is set to launch in late 2023, involving 24 centers in Germany, Austria, and Switzerland.
• The study aims to retrospectively enroll approximately 200 patients and prospectively enroll about 50 patients annually.
• Collected data includes patient history, laboratory results, bleeding tendencies, and congenital defects, alongside stored biomaterials.

Conclusions:

• The THROMKIDplus initiative represents a significant step towards a centralized resource for pediatric IPD research.
• This registry and biobanking effort will support in-depth genetic, molecular, and physiological investigations.
• The project is expected to significantly improve the understanding and management of inherited platelet disorders in children.