Sidra Medicine has marked a significant medical achievement by securing regulated access to sepiapterin for patients with Phenylketonuria (PKU), positioning Qatar as only the third country worldwide — after Germany and the United States — to provide this breakthrough treatment through approved clinical and governance pathways.
The milestone follows the successful administration of sepiapterin to a 12-year-old Qatari girl diagnosed with PKU, a rare inherited metabolic disorder that prevents the body from properly processing phenylalanine, an amino acid found in most protein-containing foods.
Phenylketonuria affects approximately 1 in 23,930 newborns worldwide, with higher incidence rates documented in parts of Europe and the Middle East. The condition occurs when the body lacks sufficient amounts of an enzyme called phenylalanine hydroxylase, which is responsible for converting phenylalanine into other substances the body needs.
Without this enzymatic activity, phenylalanine accumulates to toxic levels in the blood and brain. Left unmanaged, these elevated levels can cause severe neurological complications including developmental delays, intellectual disability, seizures, behavioral challenges, psychiatric disorders, and learning difficulties. The condition also may cause a musty odor in breath, skin, or urine due to the buildup of phenylalanine byproducts.
Traditionally, PKU management has required lifelong adherence to a highly restrictive low-phenylalanine diet, which eliminates most high-protein foods such as meat, dairy, eggs, nuts, and regular bread. Patients must also take specialised medical formulas and nutritional supplements to meet their protein and nutrient needs — a demanding regimen that significantly impacts quality of life, particularly for children and adolescents.
Sepiapterin represents a major advancement in PKU care. The medication works by helping the body produce tetrahydrobiopterin (BH4), a natural substance that acts as a cofactor for the phenylalanine hydroxylase enzyme, potentially improving the enzyme's ability to break down phenylalanine.
Prof Tawfeg Ben-Omran, Division Chief of Genetics and Genomic Medicine at Sidra Medicine, emphasised the treatment's significance: "Providing access to sepiapterin for patients with PKU represents a transformative step in metabolic care. This treatment can significantly reduce the lifelong burden of strict dietary therapy and improve quality of life for children and adults living with this condition."
The achievement represents another important milestone for Sidra Medicine's Gene Therapy Center, launched in January 2025 under the Genetic and Genomic Medicine Clinic. The Center was established to expand access to innovative, life-saving therapies for children with rare and complex genetic disorders throughout the region.
Dr Ahmed al-Hammadi, Chair of Pediatric Medicine at Sidra Medicine, added: "This milestone reflects Sidra Medicine's leadership in pediatric rare disease care and Qatar's role as a regional hub for advanced medical therapies. Providing this treatment through strict clinical governance pathways underscores our commitment to ensuring children and their families receive world-class care within Qatar."
The Gene Therapy Center employs a multidisciplinary approach, bringing together geneticists, neurologists, therapists, pharmacists, and specialised clinicians to deliver comprehensive, patient-centered care for rare genetic disorders. This collaborative model ensures that treatments like sepiapterin are administered safely and effectively, with appropriate monitoring and support for patients and their families.
The successful implementation of sepiapterin therapy positions Qatar at the forefront of rare disease treatment in the Middle East and demonstrates the country's growing capabilities in precision medicine and advanced therapeutics.
