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Hamostaseologie 2024; 44(04): 298-303
DOI: 10.1055/a-2117-4639
Review Article

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

Matthias Ballmaier‡   *
1   Central Research Facility Cell Sorting, Hannover Medical School, Hannover, Germany
,
Manuela Germeshausen‡   *
1   Central Research Facility Cell Sorting, Hannover Medical School, Hannover, Germany
,
Harald Schulze
2   Institute for Experimental Biomedicine, University Hospital Würzburg, Würzburg, Germany
3   Center of Inherited Blood Cell Disorders, University Hospital Würzburg, Würzburg, Germany
,
Oliver Andres
3   Center of Inherited Blood Cell Disorders, University Hospital Würzburg, Würzburg, Germany
4   Department of Pediatrics, University Hospital Würzburg, Würzburg, Germany
,
on behalf of the THROMKIDplus Study Group › Author Affiliations
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Abstract

Inherited platelet disorders (IPDs) represent a heterogeneous group of disorders that include both quantitative (thrombocytopenia or thrombocytosis) and qualitative (thrombocytopathy) defects. To gain better knowledge about the prevalence, pathogenesis, and clinical consequences of specific diseases, to improve diagnosis and treatment of patients with IPD, and to support translational research on a genetic, molecular, and physiological basis, the THROMKIDplus study group currently comprising 24 sites in Germany, Austria, and Switzerland decided to establish a patient registry with associated biomaterial banking for children. This registry is designed as a retrospective-prospective, multicenter observational study and supposed to launch in the second half of 2023. Blood smears, plasma, platelet pellets, and DNA of patients will be stored in certified biomaterial banks for future translational research projects. The main inclusion criteria are (1) diagnosis of or highly suspected IPD after assessment of a THROMKIDplus competence center and (2) patients aged 0 to 17 years. Initial and follow-up data on patient history, laboratory parameters, standardized documentation of bleeding tendency, and congenital defects are collected according to good clinical practice and current data protection acts by using the MARVIN platform, a broadly used data management system supported by the German Society for Pediatric Oncology Hematology (GPOH). The THROMKIDplus study group intends to enroll ∼200 patients retrospectively and an annual amount of ∼50 patients prospectively.

Zusammenfassung

Angeborene Erkrankungen der Thrombozyten (IPD) stellen eine heterogene Gruppe von Erkrankungen dar, die sowohl quantitative (Thrombozytopenie oder Thrombozytose) als auch qualitative (Thrombozytopathie) Defekte umfassen. Die THROMKIDplus-Studiengruppe mit momentan 24 Standorten in Deutschland, Österreich und der Schweiz hat beschlossen, ein Patientenregister mit angeschlossenem Biomaterialbanking für Kinder und Jugendliche einzurichten, um mehr über die Prävalenz, die Entwicklung und die Folgen spezifischer Erkrankungen zu erfahren, die Diagnose und Behandlung von Patienten mit IPD zu verbessern und die translationale Forschung auf genetischer, molekularer und physiologischer Ebene zu unterstützen. Das Patientenregister ist als retrospektiv-prospektive, multizentrische Beobachtungsstudie konzipiert und soll Ende 2023 starten. Blutausstriche, Plasma, Thrombozytenpellets und DNA von Patienten werden in zertifizierten Biomaterialbanken für zukünftige translationale Forschungsprojekte gelagert. Die wichtigsten Einschlusskriterien sind (1) die Diagnose oder der dringende Verdacht auf eine IPD nach Beurteilung durch ein THROMKIDplus-Kompetenzzentrum und (2) das Alter von 0–17 Jahren. Erst- und Folgedaten zur Anamnese, zu Laborparametern, zur standardisierten Dokumentation der Blutungsneigung und zu angeborenen Defekten werden nach guter klinischer Praxis und den aktuellen Datenschutzgesetzen unter Verwendung der MARVIN-Plattform, einem elektronischen Datenerfassungssystem der Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH), erhoben. Die THROMKIDplus-Studiengruppe beabsichtigt, etwa 200 Patienten/-innen retrospektiv und jährlich etwa 50 Patienten/-innen prospektiv einzuschließen.

Keywords

inherited platelet disorder - patient registry - biomaterial banking

Schlüsselwörter

Thrombozytopenie - Thrombozytopathie - Patientenregister

Ethical and Legal Aspects

The patient registry and the biomaterial bank are managed in accordance with the ethical principles of the 1964 Declaration of Helsinki and its current revision, and in accordance with the recommendations of the Ethics Committee of the Medical Faculty of the University of Würzburg. Furthermore, the legal provisions of the country concerned and the recommendations of the local ethics committee apply to the institutions participating in the project. The study protocol and informed consent forms have been approved by the Ethics Committee of the Medical Faculty of the University of Würzburg (reference no. 128/17).


Data Availability

Inquiries for detailed information on data collection or requested biomaterials can be directed to the corresponding authors.


* These authors contributed equally to the manuscript.




Publication History

Received: 03 May 2023

Accepted: 17 July 2023

Article published online:
02 November 2023

© 2023. Thieme. All rights reserved.

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