CORRESPONDENCE

 

Introducing the South African Rare Diseases Access Initiative

 

 

To the Editor: Rare diseases (RD), including 7 000 conditions characterised to date,^[1-3] are defined as conditions affecting <1 in 2 000 of a population.^[4] It is estimated that RD collectively affect 4.2 million, or 1 in every 15 South Africans, of whom 50 - 70% are children.^[2,5-7] Those impacted by RD face significant and distinct challenges, including an extended 'diagnostic odyssey' of >5 years.^[8] Over 80% of RD are genetic in origin, and many are life-limiting and progress swiftly - resulting in premature death or lifelong disability. Less than 10% of RD have a treatment approved by the US Food and Drug Administration (FDA),^[9] and the limited treatments available are often inaccessible and costly, with poor clinical management.

To address these unique challenges, the Rare Diseases Access Initiative (RDAI) was formed in 2019 to promote a more accessible healthcare environment for those impacted by RD in South Africa (SA). This coalition includes the Board of Healthcare Funders, Health Funders Association, Innovative Pharmaceutical Association of SA and Rare Diseases SA NPC.

RDAI seeks to improve equitable access to the appropriate diagnosis, treatment and healthcare services for all RD patients, in an affordable and sustainable manner.

The first RDAI stakeholder symposium was undertaken virtually in August 2021, resulting in six key strategic priorities identified for inclusion in a proposed National RD Framework and Strategy:^[10]

1. Diagnosis: Timely, accurate RD diagnosis saves lives, prevents disease progression and mitigates disability.

2. Access to treatments: RD patients require equitable and timely access to clinically appropriate treatments in a manner that is financially sustainable to the healthcare system.

3. Data collection and management: Empirical data are required to quantify the RD burden of disease to enable an appropriate healthcare response to be mounted via independent, comprehensive and transparent health technology assessment.

4. Co-ordinated care: Many RD are complex, long-term, and affect multiple organ systems. Co-ordinated, multidisciplinary care is needed to both improve patient outcomes and optimise allocation and implementation of available resources.

5. Access to services: Quality health services should be equitably provided, accessible and affordable to RD patients.

6. Collaborative research: Nationally co-ordinated research, including active participation by patients/carers and advocacy groups, should be integrated into national plans and clinical care for RD.

A second RDAI stakeholder symposium held in October 2022 continued this stakeholder dialogue to find actionable solutions for the six strategic priorities previously identified.^[11] Participants outlined components of the proposed RD framework where they could contribute and actively participate.

Going forward, RDAI will continue to address challenges faced by RD patients, ensure RD inclusion in the National Health Insurance ^[12] and promote universal health coverage for those impacted by RD in the context of the 2030 Sustainable Development Goal 3 targets.^[13]

For more information on RDAI, contact research@rarediseases.co.za.

H L Malherbe

Centre for Metabolomics, North-West University, and Rare Diseases South Africa NPC. research@rarediseases.co.za

 

References

1. Orphanet. Prevalence and incidence of rare diseases: Bibliographic data. Diseases listed by decreasing prevalence, incidence or number of published cases. Paris: Orphanet, 2022. https://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_decreasing_prevalence_or_cases.pdf (accessed 5 March 2022).         [ Links ]

2. European Organisation on Rare Diseases. Rare diseases: Understanding this public health priority. Paris: EURORDIS, 2005. https://www.eurordis.org/wp-content/uploads/2009/12/princeps_document-EN.pdf (accessed 23 April 2023).         [ Links ]

3. Haendel M, Vasilevsky N, Unni D, et al. How many rare diseases are there? Nat Rev Drug Discov 2020;19(2):77-78. https://doi.org/10.1038/d41573-019-00180-y        [ Links ]

4. Rare Diseases International. Operational Description of Rare Diseases. A Reference to Improve the Recognition and Visibility of Rare Diseases. Paris: RDI, 2022. https://www.rarediseasesinternationalorg/description-for-rd/ (accessed 30 March 2022).         [ Links ]

5. Statistics South Africa. Statistical Release P0302. Mid-year population estimates 2022. Pretoria: StatsSA, 2022. https://www.statssa.gov.za/publications/P0305/P03052021.pdf (accessed 20 February 2023).         [ Links ]

6. Council of the European Union. Council recommendation on action in the field of rare diseases. J Eur Comm 2009:C151/7-C151/10. https://eur-lex.europa.eu/legal-content/EN/TXT/?uri=celex%3A32009H0703%2802%29 (accessed 23 April 2023).         [ Links ]

7. Wakap SN, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: Analysis of the Orphanet database. Eur J Hum Genet 2020;28(2):165-173. https://doi.org/10.1038/s41431-019-0508-0        [ Links ]

8. Black N, Martineau F, Manacorda T. Diagnostic odyssey for rare diseases: Exploration of potential indicators. Policy Innovation Research Unit. London: School of Hygiene and Tropical Medicine, 2015. https://piru.ac.uk/assets/files/Rare%20diseases%20Final%20report.pdf (accessed 23 April 2023).         [ Links ]

9. US Food and Drug Administration. Rare disease cures accelerator - to support innovation and quality in rare disease drug development USA. Maryland: FDA, 2022. https://www.fda.gov/drugs/regulatory-science-research-and-education/rare-disease-cures-accelerator (accessed 23 April 2023).         [ Links ]

10. Rare Diseases Access Initiative. Call for a National Rare Disease Framework. Johannesburg: Rare Diseases South Africa, 2020.         [ Links ]

11. Rare Diseases Access Initiative. Workshop Report: Rare Diseases Access Initiative (RDAI): Advancing into Action. 27 October 2022. Johannesburg: Rare Diseases South Africa, 2023.         [ Links ]

12. National Department of Health, South Africa. National Health Insurance Policy for National Health Act No. 61 of 2003. Towards Universal Health Coverage. Government Gazette No. 40955:627. Pretoria: NDoH, 2017.         [ Links ]

13. United Nations General Assembly. Sustainable Development Goal 3: Ensure Healthy Lives and Promote Wellbeing for All and at All Ages. Geneva: UN, 2015. http://www.un.org/sustainabledevelopment/health/ (accessed 2 January 2016).         [ Links ]