Sidra Medicine offers an innovative treatment for a rare disease
Doha, January 05 /QNA/ Sidra Medicine has announced a significant medical advance by providing patients with phenylketonuria (PKU) access to Sepiapterin treatment. This makes Qatar the third country in the world, after Germany and the United States, to offer this treatment under approved and regulated clinical practices and governance mechanisms.
This crucial step follows the successful administration of Sepiapterin to a 12-year-old Qatari girl with phenylketonuria (PKU), a rare inherited metabolic disorder that prevents the body from metabolizing the amino acid phenylalanine.
The prevalence of this disease is estimated at one case per 23,930 births worldwide, with higher incidence observed in certain regions of Europe and the Middle East.
Sidra Medicine stated that in the classic forms of the disease, diagnosis requires a lifelong strict diet low in phenylalanine in conjunction with special nutritional supplements. Without effective treatment, high levels of phenylalanine become toxic to the brain and can lead to serious neurological complications such as developmental delays, epileptic seizures, behavioral problems and learning difficulties.
Professor Tawfeg Ben-Omran, Head of the Department of Genetics and Genomic Medicine at Sidra Medicine, said: “Access to Sepiaptrin for PKU patients represents a groundbreaking advance in the treatment of metabolic disorders. This treatment can significantly reduce the burden of lifelong adherence to strict diets and improve the quality of life of affected children and adults.”
Dr. Ahmed Al Hammadi, Head of Pediatrics at Sidra Medicine, said: “This advance demonstrates Sidra Medicine’s leading role in the treatment of rare childhood diseases and confirms Qatar’s position as a regional reference center for advanced medical therapies. Providing this treatment under strict clinical protocols underlines our commitment to providing world-class care to children and their families in Qatar.”