Rare Diseases in MENA and the Need for Infrastructure, Access & Awareness


Few stakeholders are better placed to assess the landscape for rare disease therapies across the Middle East and North Africa (MENA) region than Karim Smaira and Kamel Ghammachi of Genpharm, an entrepreneurial success story that now provides market access and marketing solutions for rare disease products across the region.


As CEO Smaira explains, the burden that these diseases pose is especially pronounced in MENA. “Rare disease has such a personal impact on patients and their lives,” he outlines. “80 percent are of genetic origin and affect paediatric patients. There is a high level of genetic disease in this region, where 50 percent of marriages are between inter-family members.”


A rare disease specialist in Europe may see a few cases per year, while his equivalent in Saudi might see a few cases a month

Karim Smaira, Genpharm


This prevalence has helped create a situation whereby doctors in the region’s most developed countries, such as Saudi Arabia, have become rare disease experts. “In rare diseases especially, one important difference between Saudi and US or European experts is that Saudi doctors see many more rare disease patients due to the genetic composition of the population, the tribal structure, and the consanguinity,” points out Smaira.


“A rare disease specialist in Europe may see a few cases per year, while his equivalent in Saudi might see a few cases a month. This creates a high level of expertise, combining Western training (most experts holding key positions within Saudi have been trained abroad in Canada, the US, or the UK) with a lot of practical experience in Saudi.”


Many pharma companies are today turning their attention towards rare diseases, cognizant of the variety of unmet needs in the field and the appealing regulatory landscape for orphan drugs. “The treatments currently available cover only around 200 rare diseases, while in total there are over 7,000,” highlights Smaira. “Most R&D investments today are geared towards rare diseases because of fast-track approval, higher prices, and commercialisation pathways.”


However, despite this high unmet need and increased attention, bringing rare disease treatments to the Middle East is complicated by a lack of enabling infrastructure. As Genpharm Chairman Ghammachi notes, “This is a very fragmented environment with many patients on private healthcare plans and others covered by public institutions and governments. Barring Saudi, Gulf markets have relatively small local populations, meaning that there is not enough volume for governments to conduct large and comprehensive epidemiology studies.”


He continues, “This means that the diagnostic situation is far from ideal. Many samples taken locally, even from public hospitals, are still sent to commercial and university research labs in Europe and the US for genetic screening and sequencing.” Ghammachi does, however, note that some progress has been made in Qatar, the UAE, and Saudi Arabia to screen their populations and create a local genomic database which can be used in the quest to eradicate certain genetic diseases.


This fragmentation extends from screening and diagnostics into patient access itself. “A significant difference between healthcare systems in the Middle East and those in the US and Europe is that if approval and funding for a product is granted there, it is a blanket approval and any patient that is identified gets the treatment,” states Ghammachi. “Here, it is done on a case-by-case or hospital-by-hospital basis; if the hospital has the budget, the patient will get the treatment, which then needs to be renewed. If the hospital does not have the budget, then we must find a different hospital or a charity, but in many cases the patient does not get access to the therapy.”


The picture is further muddied by a lack of disease awareness in the region. Smaira illuminates, “We have only seen the tip of the iceberg. To illustrate, the remote eastern provinces of Saudi – where there is a major lack of tertiary healthcare institutions – are those with the highest levels of consanguinity and thus the highest rates of diseases such as sickle cell anaemia, haemophilia, and thalassemia. Most cases are treated in Riyadh or Jeddah but originate in the east of the country. However, transportation across what is a very large country by plane is difficult and these families do not necessarily have either the finances or education to know which doctor to see or hospital to visit. That is why a lot of our work is focused on awareness.”


Ghammachi pick up the education/awareness thread. “A lot of our investments go into education, working with geneticists and raising disease awareness with scientific societies and physicians that connect with patients to reduce the time taken on diagnostics.”


He adds, “We do this through a focus on early signs and symptoms, as in our project with the UAE Ministries of Health and Education, working in local public schools speaking to teachers through a physician about the early signs and symptoms of Duchenne muscular dystrophy. On average, patients in the Middle East are being diagnosed at the age of eight for this disease while in Europe the diagnosis happens at the age of four; meaning that there is a four-year window of opportunity to treat being missed, which has a huge impact on mobility and life expectancy. On average, these children end up in a wheelchair at the age of 11, an age that can be significantly delayed with earlier diagnosis and treatment.”

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