A rare or orphan disease is any disease that affects a small percentage of the overall population. 80% of rare diseases are of genetic origin and 50% affect children. Currently there are more than 7000 recognised rare diseases worldwide but only 5% of them have approved therapies.

There are more than 2.8mio people living with a rare disease in the Middle East & North Africa (MENA) region.  The area is characterised by one of the highest prevalence and incidence rates in the world due to a significantly high rate of consanguineous marriages (30–60% depending on the country), large family size and an older parental age.

According to the Centre for Arab Genomic Studies (CAGS), more than 1000 genetic disorders and phenotypes have been identified in the Arab populations. The MENA area that ranges from Morocco to the south to Iran in the North, holds 360m inhabitants that are ethnically and culturally very diverse.

Some of the most commonly reported genetic diseases reported from MENA include Sickle Cell Disease, Thalassemia, Haemophilia, inborn errors of metabolism (Pompei’s disease, Mucopolysaccharidosis types), Bechet’s, as well as Neuromuscular diseases such as Spinal Muscular Atrophy, Limbe-Girdle’s and Duchenne Muscular Dystrophy. It is estimated that the burden of disease in the region and the associated costs are around $30 billion.

Despite progress in recent years, the rare disease space faces several challenges:

• Low but increasing awareness amongst the general population.
• Lack of published scientific literature and epidemiological studies.
• National or regional patient registries are recently rolled-out
• Local availability of genetic testing to shorten time to confirmed diagnosis.
• Limited number of experts and tertiary hospitals with multidisciplinary care.

Nevertheless, governments and regulators have put in place recent measures to facilitate diagnosis and treatment access for rare disease patients:

• Accelerated regulatory pathway for orphan drugs.
• International referencing benchmarks for pricing.
• Funding and reimbursement programs through MOH or large hospitals.
• Set up of national labs to provide genetic testing.
• Encouraging research and clinical trials.
• Pre-marital, NBS and high-risk screening covering an average of 15 hematological and metabolic diseases.
• Increased support for Awareness campaigns to physicians and patients’ societies such as on the global Rare Disease Day.

Through its network and partnerships, Genpharm is the regional leader and the partner of choice for multinational organizations in the rare disease space. We continue to undertake a multitude of initiatives to support the key stakeholders in raising awareness, accelerating diagnosis and facilitating access to innovative and effective treatments.

To know how we can help you in your disease area please get in touch with us at info@genpharmservices.com

Or by calling us at +971 4 4227010