ArticleFrontiers in pharmacology2021
Treating Rare Diseases in Africa: The Drugs Exist but the Need Is Unmet.
Article in Frontiers in pharmacology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Balancing benefits and burdens: a systematic review on ethical and social dimensions of gene and cell therapies for hereditary blood diseases.BMC medical ethics · 2025Pooled it
- Exploring individualized crovalimab dosing in PNH through in silico modelling: Potential for improved convenience and cost efficiency.British journal of clinical pharmacology · 2026Article
- Complement inhibitor therapy should be available to patients with paroxysmal nocturnal hemoglobinuria throughout the world.International journal of hematology · 2026Review
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- Caregivers' beliefs about hydroxyurea influence its usage among children with sickle cell disease: a cross-sectional study in Dar-es-Salaam, Tanzania.The Pan African medical journal · 2025Article
- Newborn screening programs for spinal muscular atrophy worldwide in 2023.Journal of neuromuscular diseases · 2024Article
- Looking ahead: ethical and social challenges of somatic gene therapy for sickle cell disease in Africa.Gene therapy · 2024Review
- Managing sickle cell disease and related complications in pregnancy: results of an international Delphi panel.Blood advances · 2024Article
- Addressing a broken drug pipeline for preterm birth: why early preterm birth is an orphan disease.American journal of obstetrics and gynecology · 2023Article
- Current challenges and new approaches to implementing optimal management of sickle cell disease in sub-Saharan Africa.Seminars in hematology · 2023Article
- Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges.International journal of environmental research and public health · 2023Review
- Literature Review on Health Emigration in Rare Diseases-A Machine Learning Perspective.International journal of environmental research and public health · 2023Review
- Management of paroxysmal nocturnal hemoglobinuria (PNH).Journal of clinical laboratory analysis · 2022Article
- Rare diseases in Tanzania: a National Call for Action to address policy and urgent needs of individuals with rare diseases.Orphanet journal of rare diseases · 2022Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare diseases (RD) pose serious challenges in terms of both diagnosis and treatment. Legislation was passed in the US (1983) and in EU (2000) aimed to reverse the previous neglect of RD, by providing incentives for development of "orphan drugs" (OD) for their management. Here we analyse the current situation in Africa with respect to (1) sickle cell disease (SCD), that qualifies as rare in the US and in EU, but is not at all rare in African countries (frequencies up to 1-2%); (2) paroxysmal nocturnal haemoglobinuria (PNH), that is ultra-rare in Africa as everywhere else (estimated <10 per million). SCD can be cured by bone marrow transplantation and recently by gene therapy, but very few African patients have access to these expensive procedures; on the other hand, the disease-ameliorating agent hydroxyurea is not expensive, but still the majority of patients in Africa are not receiving it. For PNH, currently most patients In high income countries are treated with a highly effective OD that costs about $400,000 per year per patient: this is not available in Africa. Thus, the impact of OD legislation has been practically nil in this continent. As members of the medical profession and of the human family, we must aim to remove barriers that are essentially financial: especially since countries with rich economies share a history of having exploited African countries. We call on the Global Fund to supply hydroxyurea for all SCD patients; and we call on companies who produce ODs to donate, for every patient who receives an expensive OD in a high income country, enough of the same drug, at a symbolic price, to treat one patient in Africa.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.