Periodic Reporting for period 2 - ARISE (African Research and Innovative Initiative for Sickle cell Education: Improving Research Capacity for Service Improvement)
Reporting period: 2022-11-01 to 2024-10-31
Sickle Cell Disease (SCD) is the world’s most common monogenic disease but remains one of the most neglected non-communicable diseases. It affects approximately 400,000 newborns annually and has around 100 million patients worldwide, with over 75% of cases concentrated in sub-Saharan Africa (SSA). SCD is a systemic disease with multiple complications, including anemia, bacterial infections, and chronic organ damage (stroke, kidney failure, cardiac issues), leading to premature mortality. It accounts for approximately 16% of all under-five deaths in SSA. While interventions such as newborn screening (NBS), penicillin prophylaxis, and hydroxyurea have improved early childhood survival, their implementation in SSA is still limited, and the average life expectancy for SCD patients in the region remains below 20 years.
The ARISE project was designed to:
1. Implement universal newborn screening and early diagnosis programs, integrating them into national and regional health policies in SSA.
2. Train African healthcare personnel, enhancing scientific excellence and sustainable research capacity through SCD-focused projects.
ARISE promoted staff exchange programs between EU and non-EU institutions, strengthening the sharing of best practices in SCD diagnosis and treatment. By the end of the funding period, the project had exceeded expectations, achieving significant results:
• 134 secondees completed over 454 months of staff exchange, gaining expertise in research, molecular diagnostics, counseling, data science, and e-health technologies.
• A newborn screening model was developed and launched in Angola, Nigeria, and Zambia.
• Nigerian health authorities committed to supporting the NBS program in Kaduna State.
The project demonstrated that evidence-based interventions, community engagement, and multi-stakeholder collaboration can reduce health disparities. Integrating SCD care into Primary Healthcare Centres (PHCs) will provide a sustainable foundation for long-term treatment. Furthermore, insights from Kaduna State could inform healthcare practices in high-income countries with significant African diaspora populations, increasing ARISE’s global impact.
The ARISE project was designed to:
1. Implement universal newborn screening and early diagnosis programs, integrating them into national and regional health policies in SSA.
2. Train African healthcare personnel, enhancing scientific excellence and sustainable research capacity through SCD-focused projects.
ARISE promoted staff exchange programs between EU and non-EU institutions, strengthening the sharing of best practices in SCD diagnosis and treatment. By the end of the funding period, the project had exceeded expectations, achieving significant results:
• 134 secondees completed over 454 months of staff exchange, gaining expertise in research, molecular diagnostics, counseling, data science, and e-health technologies.
• A newborn screening model was developed and launched in Angola, Nigeria, and Zambia.
• Nigerian health authorities committed to supporting the NBS program in Kaduna State.
The project demonstrated that evidence-based interventions, community engagement, and multi-stakeholder collaboration can reduce health disparities. Integrating SCD care into Primary Healthcare Centres (PHCs) will provide a sustainable foundation for long-term treatment. Furthermore, insights from Kaduna State could inform healthcare practices in high-income countries with significant African diaspora populations, increasing ARISE’s global impact.
The ARISE Project successfully achieved all objectives across its eight Work Packages (WPs, focusing on newborn screening, disease management, training, research, and dissemination efforts related to Sickle Cell Disease (SCD) in sub-Saharan Africa (SSA) and Lebanon.
Key Achievements of each WP:
• WP1 (Coordination & Management): Developed tools for project organization, managed secondments, handled challenges posed by COVID-19 (suspension and restart of activities), and expanded partnerships by adding institutions from Italy, Portugal, Zambia, and Angola.
• WP2 (eHealth & Newborn Screening): Conducted legal and ethical assessments in Nigeria, Kenya, Angola, Zambia, and Lebanon; launched studies on SCD clinical management and patient needs; designed an SCD registry; updated the project website with an e-library for knowledge sharing.
• WP3 (Laboratory Diagnostics & Quality Assurance): Assessed gaps in SSA laboratories; provided virtual training due to pandemic restrictions; launched an external quality assurance program for newborn screening in Nigeria with UK NEQAS and the ASH-led CONSA.
• WP4 (Newborn Screening & Clinical Care): Developed and tested a sustainable newborn screening model in low- and middle-income countries (LMICs); trained secondees in lab techniques; supported virtual training; developed protocols for managing complications and routine health therapies.
• WP5 (Molecular Diagnostics & Genetic Research): Collected samples for genetic testing and analyzed genotype-phenotype correlations; conducted epidemiological surveys on haemoglobinopathies.
• WP6 (Clinical Research Training & Support): Built clinical research capacity, analyzed existing data, and strengthened collaborations within ARISE institutions.
• WP7 (Dissemination & Communication): Developed ARISE's visual identity, advocacy materials, and social media presence; conducted awareness events and participated in international conferences (ASCAT, ASH, EHA, and others); published research findings.
• WP8 (Ethics Compliance): Ensured adherence to EU and international ethics regulations, conducted Data Protection Impact Assessments, appointed an Ethics Advisor, and developed ethical research templates (e.g. informed consent forms).
Additional Contributions:
• Train-the-Trainer Workshops (2019 & 2022, Nigeria): Trained over 150 professionals from 10 institutions on SCD management, laboratory skills, and international collaboration.
• ARISE secondees and their hosting institutions teams were able to effectively contribute to several studies and knowledge-generating activities:
o Prevalence & Burden of SCD among 1,400 students in Kaduna, Nigeria.
o Socio-economic impact of SCD on patients and households.
o Retrospective survey on SCD prevalence in children under five.
o Adaptation of the FAST acronym for stroke recognition in Nigeria, Kenya, and Zambia.
o Systematic reviews on hydroxyurea efficacy, stroke screening, neonatal screening outcomes, albuminuria, depression, and health interventions for SCD in Africa.
The ARISE project successfully strengthened SCD screening, care, and research capacity, demonstrating sustainable interventions to reduce health disparities in SSA and beyond.
Key Achievements of each WP:
• WP1 (Coordination & Management): Developed tools for project organization, managed secondments, handled challenges posed by COVID-19 (suspension and restart of activities), and expanded partnerships by adding institutions from Italy, Portugal, Zambia, and Angola.
• WP2 (eHealth & Newborn Screening): Conducted legal and ethical assessments in Nigeria, Kenya, Angola, Zambia, and Lebanon; launched studies on SCD clinical management and patient needs; designed an SCD registry; updated the project website with an e-library for knowledge sharing.
• WP3 (Laboratory Diagnostics & Quality Assurance): Assessed gaps in SSA laboratories; provided virtual training due to pandemic restrictions; launched an external quality assurance program for newborn screening in Nigeria with UK NEQAS and the ASH-led CONSA.
• WP4 (Newborn Screening & Clinical Care): Developed and tested a sustainable newborn screening model in low- and middle-income countries (LMICs); trained secondees in lab techniques; supported virtual training; developed protocols for managing complications and routine health therapies.
• WP5 (Molecular Diagnostics & Genetic Research): Collected samples for genetic testing and analyzed genotype-phenotype correlations; conducted epidemiological surveys on haemoglobinopathies.
• WP6 (Clinical Research Training & Support): Built clinical research capacity, analyzed existing data, and strengthened collaborations within ARISE institutions.
• WP7 (Dissemination & Communication): Developed ARISE's visual identity, advocacy materials, and social media presence; conducted awareness events and participated in international conferences (ASCAT, ASH, EHA, and others); published research findings.
• WP8 (Ethics Compliance): Ensured adherence to EU and international ethics regulations, conducted Data Protection Impact Assessments, appointed an Ethics Advisor, and developed ethical research templates (e.g. informed consent forms).
Additional Contributions:
• Train-the-Trainer Workshops (2019 & 2022, Nigeria): Trained over 150 professionals from 10 institutions on SCD management, laboratory skills, and international collaboration.
• ARISE secondees and their hosting institutions teams were able to effectively contribute to several studies and knowledge-generating activities:
o Prevalence & Burden of SCD among 1,400 students in Kaduna, Nigeria.
o Socio-economic impact of SCD on patients and households.
o Retrospective survey on SCD prevalence in children under five.
o Adaptation of the FAST acronym for stroke recognition in Nigeria, Kenya, and Zambia.
o Systematic reviews on hydroxyurea efficacy, stroke screening, neonatal screening outcomes, albuminuria, depression, and health interventions for SCD in Africa.
The ARISE project successfully strengthened SCD screening, care, and research capacity, demonstrating sustainable interventions to reduce health disparities in SSA and beyond.
The ARISE project fostered cooperation between African, US, Lebanese and European researchers, enabling the successful implementation of newborn screening (NBS), comprehensive care, and self-management programmes, along with the development of patient registries to reduce childhood mortality and improve SCD outcomes.
Key Achievements:
• Innovative NBS Model: Focused on Primary Healthcare Centres (PHCs) to ensure accessibility, leveraging government commitment and stakeholder collaboration.
• Clinical Care Working Group: Established to integrate infants diagnosed with SCD into clinical care pathways before three months of age. A training video and standard protocol were developed for communicating diagnoses to parents.
• Treatment Hubs in Kaduna: Three hubs were set up, creating referral pathways connecting community health workers, nurses, general practitioners, and specialists for both routine and emergency care. Job aids and treatment guidelines were also developed.
• Comprehensive SCD Management Protocol: Designed for paediatric-to-adult care, reviewed by national and international experts, and formally adopted by specialist hospitals in Kaduna, Zaria, and Kafanchan.
• Policy Development: An official engagement meeting (Jan 29, 2025) in Kaduna State, Nigeria gathered feedback on the NBS policy and initiated the development of Standard Operating Procedures (SOPs) for SCD management.
• Capacity Building & Sustainability:
1. Secondees gained expertise in research, clinical care, and career advancement, benefiting both individuals and institutions.
2. A context-based, culturally sensitive, and sustainable SCD care plan was developed, using Implementation Science to ensure adoption.
3. The ARISE patient registry model proved feasible for low- and middle-income countries (LMICs).
4. A Community Stakeholder Engagement strategy was implemented to raise awareness and ensure project impact.
The ARISE project demonstrated the successful translation of research into practice, establishing sustainable SCD care models and influencing policy development in SSA.
Key Achievements:
• Innovative NBS Model: Focused on Primary Healthcare Centres (PHCs) to ensure accessibility, leveraging government commitment and stakeholder collaboration.
• Clinical Care Working Group: Established to integrate infants diagnosed with SCD into clinical care pathways before three months of age. A training video and standard protocol were developed for communicating diagnoses to parents.
• Treatment Hubs in Kaduna: Three hubs were set up, creating referral pathways connecting community health workers, nurses, general practitioners, and specialists for both routine and emergency care. Job aids and treatment guidelines were also developed.
• Comprehensive SCD Management Protocol: Designed for paediatric-to-adult care, reviewed by national and international experts, and formally adopted by specialist hospitals in Kaduna, Zaria, and Kafanchan.
• Policy Development: An official engagement meeting (Jan 29, 2025) in Kaduna State, Nigeria gathered feedback on the NBS policy and initiated the development of Standard Operating Procedures (SOPs) for SCD management.
• Capacity Building & Sustainability:
1. Secondees gained expertise in research, clinical care, and career advancement, benefiting both individuals and institutions.
2. A context-based, culturally sensitive, and sustainable SCD care plan was developed, using Implementation Science to ensure adoption.
3. The ARISE patient registry model proved feasible for low- and middle-income countries (LMICs).
4. A Community Stakeholder Engagement strategy was implemented to raise awareness and ensure project impact.
The ARISE project demonstrated the successful translation of research into practice, establishing sustainable SCD care models and influencing policy development in SSA.