Newly diagnosed children and adolescents with haemophilia A and B in Germany – the GEPHARD study of the `Standing Commission Paediatrics of the Society for Thrombosis and Haemostasis Research

Objective In Germany, 40-60 newborns are expected to be diagnosed with haemophilia per year. Haemophilia leads to recurrent bleeds and increased morbidity and mortality. Prophylaxis is the standard of care to prevent bleeds and sequela. The optimal timing or regimen to start prophylaxis to avoid the development of joint disease or neutralizing antibodies to clotting factors are still being discussed. Except for the German haemophilia registry documenting a limited set of data, no national data are available on incidence, treatment, clinical course or outcome of newly diagnosed haemophilias in Germany.

Material and Methods The German Paediatric Haemophilia Research Database (GEPHARD) enrols children and adolescents (<18 years) that have been diagnosed with haemophilia (FVIII or FIX levels <25%) since January 2017. This prospective registry is open to all centres and documents variables related to diagnosis, therapy and outcome including but not limited to inhibitor development, offers quality assurance and serves as a base for future studies. GEPHARD works closely together with the German Haemophilia registry and PedNet.

Results The database has been established and longitudinal documentation has been started. Funding from most companies offering FVIII or FIX products in Germany has been secured for initial five years. Since January 1st 2017 216 children and adolescents have been enrolled from 36 participating centres. For those children and adolescents with information available, 178 children were diagnosed with haemophilia A including 106, 18 and 54 with a severe, moderate or mild phenotype, respectively. Thirty children were diagnosed with haemophilia B including 17, 7 and 6 with a severe, moderate or mild phenotype, respectively. The median age of diagnosis for severe (n = 106), moderate (n = 18) or mild (n = 54) haemophilia A was 0.42, 0.04 and 1.75 years. For haemophilia B, the median age of diagnosis was 0.17, 2.75 and 3.21 for severe (n = 17), moderate (n = 7) and mild (n = 6). Since 2017, inbetween 58 and 66 patient have been recruited every year.

Conclusion The GEPHARD community has included 216 children from January 2017 to June 2020. Following administrative issues which have been solved, the current pandemic poses a further burden on a central and longitudinal documentation. Nevertheless, longitudinal documentation has been started and will provide additional data in the near future.

Publication History

Article published online:
18 June 2021