Fedele Bonifazi

Haemoglobinopathy registries support research and outcome monitoring. Still, reuse is limited due to heterogeneous structures, registry-specific coding, and incomplete semantic representation. We designed and implemented a FAIRification workflow for the INHERENT haemoglobinopathy platform, an international genotype-phenotype registry, as part of the HemaFAIR project. The workflow was extended to the Cyprus Haemoglobinopathy Patient Registry to demonstrate its applicability across a second registry. Source data and metadata were transformed through two independent but complementary harmonisation branches executed in parallel: one producing an OMOP CDM representation, and the other generating a CARE-SM representation. The workflow generated graph-based semantic resources, predefined query services, public aggregate dashboards, and application programming interface (API) endpoints. Registry metadata were published through the European Rare Disease Registry Infrastructure and a FAIR Data Point. These outputs support findability, interoperable analysis and controlled reuse while preserving existing governance over patient-level data.

Background: Sickle cell disease (SCD) patients have increased susceptibility to infections, particularly encapsulated bacterial pathogens such as Streptococcus pneumoniae and Haemophilus influenzae type b. Hyposplenism as well as immune defects in SCD result in increased risks for infections; these are the most frequent complications in individuals with SCD. This study was performed within the African Research and Innovative initiative for Sickle cell Education (ARISE, EC GA No 824021) project to develop best practices in the clinical management of SCD. In this retrospective study we aimed to determine the most prevalent reported infections among SCD patients’ records during clinic visits at Ahmadu Bello University Teaching Hospital, Zaria, Nigeria. Methods: The medical records of 1961 paediatric SCD patients from 1998 to 2023 were extracted and reviewed from a pilot electronic registry using a structural query. The data analysed patterns of infections reported during clinic visits at the ABUTH, Zaria, Nigeria. Results: 458 subjects (23.4%) manifesting at least one infection, of whom 392 (19.9%) subjects had a single infection (bacterial or parasitic) and 173 (8.8%) had more than one infection (bacterial and parasitic). Conclusions: Bacterial and parasitic infections are a significant complication of SCD patients attending a tertiary institution in northern Nigeria.

The authors would like to make the following correction to the published paper

To meet the growing need for strong clinical evidence on a global scale, both publicand private sectors have invested to standardise health data elements and achievegreater connectivity and interoperability of health data systems. This is enabled byFAIRification (making Findable, Accessible, Interoperable, and Reusable) of clinicaltrial data increasingly recognised as a crucial step in enhancing the value and utility ofclinical data across the research community. This is even more relevant in thepaediatric and rare disease field where data remains highly fragmented in terms ofdata collection practices, ontologies, and clinical reporting standards, and often lockedin silos with diverse formats and standards.

Background: Sickle cell disease (SCD) is a genetic disorder characterized by crescent‐shaped red blood cells, which can result in a number of complications. SCD prevalence is higher in countries with limited resources and, in certain regions such as Lebanon, may be compounded by high consanguinity rates, posing significant challenges for both healthcare systems and patients. This study aimed to assess patient needs and the organization of SCD management centers, to identify service gaps, and enhance care.Methods: SCD patients, caregivers, or legal representatives completed questionnaires about their experiences from diagnosis to present. Data were safely preserved for analysis. Additionally, electronic surveys regarding services, equipment, and staffing were filled out by reference staff from healthcare facilities in Lebanon, a low‐resource country with a large refugee population. Qualitative thematic analysis and SPSS were used to analyze data.Results: Among 124 participants, those living in rural areas reported significantly greater obstacles to quality care compared to urban residents (p < 0.001). Facilities unequipped for SCD care reported significantly fewer trained staff (p = 0.001), fewer beds dedicated to SCD (p = 0.003), and reduced use of infection screening tools (p = 0.033) compared to equipped centers. Patients at unequipped centers also reported lower satisfaction with communication, pain control, and psychological support (all p < 0.001), and showed less awareness of genetic counseling and SCD inheritance (p < 0.001).Conclusion: This study reveals substantial deficiencies in SCD management in the surveyed setting. Addressing gaps in staffing, training, and resource availability is urgently required. Collaborative efforts to strengthen healthcare systems could greatly improve outcomes and ensure people with SCD obtain suitable, high‐quality care.

Background/Objectives: This work aimed to analyze pediatric Post-Authorization Studies (PASs) registered in the European Union electronic Register of Post-Authorization Studies (EU PAS Register) from September 2010 to April 2023 to identify trends in terms of timing, age groups, and therapeutic areas and to discuss pediatric specificities and sources of funding for the PASs. Methods: A screening process identified PASs conducted exclusively on the pediatric population, and instructions were provided to ensure standardized data collection from the EU PAS Register. A univariate linear regression descriptive analysis was performed to assess trends over time, while a multivariate linear regression analysis helped explore additional characteristics of these studies. Results: Of the 2574 PASs extracted from the EU PAS Registry, 165 were included in this analysis. The majority of pediatric PASs were observational studies (86%), and most of them utilized secondary data (53%). The annual number of PASs increased significantly between 2010 and 2023. As envisaged, the largest part was funded by pharmaceutical companies (62%). Anti-infectives for systemic uses (25%), medicines for the nervous system (18%), and antineoplastic and immunomodulating agents (15%) resulted in the most studied drugs. Conclusions: Our findings show that post-marketing observational research in pediatric populations has increased over time. Nevertheless, industry–academia collaboration should be encouraged, and regulatory guidance is needed to prioritize research in areas of unmet therapeutic need.

This work aimed to analyze pediatric Post-Authorization Studies (PASs) registered in the European Union electronic Register of Post-Authorization Studies (EU PAS Register) from September 2010 until April 2023 to identify trends in terms of timing, age groups and therapeutic areas, and to discuss pediatric specificities and sources of funding for the PASs. A screening process identified PASs conducted exclusively on the pediatric population, and instructions were provided to ensure standardized data collection from the EU PAS Register. A univariate linear regression descriptive analysis was performed to assess trends over time, while a multivariate linear regression analysis helped explore additional characteristics of the studies. Of the 2,574 PASs extracted from the EU PAS Registry, 165 were included in the analysis. The majority of pediatric PASs were observational studies (86%), and most of them utilized secondary data (53%). The annual number of PASs increased significantly between 2010 and 2023. As envisaged, the largest part was funded by pharmaceutical companies (62%). Anti-infectives for systemic uses (25%), medicines for the nervous system (18%), and antineoplastic and immunomodulating agents (15%) resulted the most studied drugs. Our findings show that post-marketing observational research in pediatric populations has increased over time. Nevertheless, industry-academia collaboration should be encouraged, and regulatory guidance is needed to prioritize research in areas of unmet therapeutic need.