Treating Rare Diseases in Africa: The Drugs Exist but the Need Is Unmet

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.

Factors associated with mortality among the COVID-19 patients treated at Gulu Regional Referral Hospital: A retrospective study

Background: The advent of the novel coronavirus disease 2019 (COVID-19) has caused millions of deaths worldwide. There is a lack of data on the outcome of hospitalized African patients suffering from COVID-19.This study aimed at identifying factors associated with hospital mortality in patients who suffered from COVID-19 at Gulu Regional Referral Hospital in Northern Uganda from March 2020 to October 2021.Methods: This was a single-center, retrospective study in patients hospitalized with confirmed COVID-19 at Gulu Regional Referral Hospital in Northern Uganda. Socio-demographic characteristics, clinical presentations, comorbidities, duration of hospital stay, and treatment were analyzed, and factors associated with increased odds of mortality were determined.Results: Of the 664 patients treated, 661(99.5%) were unvaccinated, 632(95.2%) recovered and 32(4.8%) died. Mortality was highest in diabetics 11(34.4%), cardiovascular diseases 12(37.5%), hypertensive 10(31.3%), females 18(56.3%), > 50-year-olds 19(59.4%), no formal education 14(43.8%), peasant farmers 12(37.5%) and those who presented with difficulty in breathing/shortness of breath and chest pain 32(100.0%), Oxygen saturation (Sp02) <80 4(12.5%), general body aches and pains 31(96.9%), tiredness 30(93.8%) and loss of speech and movements 11(34.4%). The independent factors associated with mortality among the COVID-19 patients were females AOR=0.220,95%CI:0.059-0.827;p=0.030; Diabetes mellitus AOR=9.014, 95%CI:1.726-47.067;p=0.010; tiredness AOR=0.059,95%CI:0.009-0.371; p=0.0000; general body aches and pains AOR=0.066,95%CI:0.007-0.605; p=0.020; loss of speech and movement AOR=0.134,95%CI:0.270-0.660;p=0.010 and other comorbidities AOR=6.860, 95%CI:1.309-35.957;p=0.020.Conclusion: The overall hospital mortality was 4.8%. Older age, people with diabetics, females, other comorbidities, severe forms of the disease, and those admitted to HDU were significant risk factors associated with hospital mortality. More efforts should be made to provide “Enhanced shielding” to the most vulnerable population to avoid preventable morbidity and mortality of COVID-19 in Northern Uganda.

Genetic factors associated with tuberculosis-related clinical outcomes in HIV-infected Black-African patients: a systematic review and meta-analysis

Aim: To evaluate the genetic factors influencing tuberculosis (TB) clinical outcomes in HIV-infected Black-African patients. Materials & methods: We systematically searched and identified eligible publications from >550 databases indexed through February 2021. Results: Eighteen studies were included in the qualitative synthesis. Only two cohorts from one study were included in quantitative synthesis of which the low expression MIF−794 CATT5,6 ( 5/5 + 5/6 + 6/6) genotypes were not associated with TB infectivity in HIV-infected patients (OR = 1.31, 95% CI 0.46–3.79). Other TB clinical outcomes observed in HIV/TB co-infected patients included: drug-induced liver injury, peripheral neuropathy, mortality, lung function and TB cure. Conclusion: This review finds inconclusive evidence that genetic factors are associated with TB clinical outcomes among HIV-infected patients in sub-Saharan Africa.

The Current State of Parkinsonism in West Africa: A Systematic Review

Parkinsonism is one of the most common neurodegenerative diseases among the elderly. Africa is experiencing an increasing burden of age-related conditions including parkinsonism. However, there is not enough data on the prevalence, symptoms, and management of the disorder in West African patients. This systematic review examines the current state of parkinsonism in West Africa by discussing its epidemiology, symptomatology, and treatment. We searched PubMed, BioMed Central, and AJOL databases from January 2000 to December 2020 for studies on parkinsonism conducted in West African countries. We included 32 studies in this review: 23 from Nigeria, 5 from Ghana, and 1 each from Benin, Mali, Niger, and Senegal. Out of the 32 reviewed studies, 11 focused on the prevalence of parkinsonism, 4 examined the genetics of Parkinson’s disease (PD), and 17 described the symptomatology and therapy of parkinsonism. The prevalence of parkinsonism in West Africa ranges from 6.0% to 8.3% of neurologic admissions/consultations. The estimated crude prevalence of PD in West Africa varies from 15 to 572 per 100,000 people. Thus far, no pathogenic genetic variants have been associated with PD in the region. Levodopa is frequently used singly or in combination with other medications to manage parkinsonian symptoms, which is consistent with reports from other African regions. Most of the reviewed studies focused only on PD, limiting assessment of other forms of parkinsonism. Almost all the prevalence studies were hospital-based and monocentric, making it impossible to accurately estimate the true prevalence of parkinsonism in West Africa. Larger community-based prevalence studies are recommended to enable accurate quantification of disease burden. Future genetic investigations should consider a wider array of gene mutations associated with parkinsonism. Moreover, public health surveillance strategies should be established to monitor the epidemiology of the disorder.