Sidra Medicine announced a significant medical achievement by facilitating access to sepiapterin for patients with Phenylketonuria (PKU), making Qatar the third country in the world - after Germany and USA - to provide this treatment through approved and regulated clinical and governance pathways.

The milestone followed 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 breaking down the amino acid phenylalanine.

PKU affects an estimated one in 23,930 newborns worldwide, with higher incidence reported in parts of Europe and the Middle East.

Sidra Medicine noted that individuals diagnosed with PKU have traditionally been required to follow a strict, lifelong low-phenylalanine diet supported by specialised nutritional supplements.

Without effective management, elevated phenylalanine levels can be toxic to the brain, leading to serious neurological complications, including developmental delays, seizures, behavioural challenges, and learning difficulties.

Prof. Tawfeg Ben-Omran, Division Chief of Genetics and Genomic Medicine at Sidra Medicine, said: “Providing access to sepiapterin for patients with PKU represents a transformative step in metabolic care. This treatment option has the potential to significantly reduce the lifelong burden of strict dietary therapy and improve quality of life for children and adults living with this rare condition. Our multidisciplinary team remains committed to delivering safe, evidence-based care and supporting families through personalized clinical decision-making.”

The achievement marks another important milestone for Sidra Medicine’s Gene Therapy Center, which was 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 and continues to play a critical role in delivering advanced, regulated treatment options in the region.

Chair of Pediatric Medicine at Sidra Medicine, Dr. Ahmed Al Hammadi, added: “This milestone further underscores Sidra Medicine’s leadership in paediatric rare disease care and Qatar’s role as a regional hub for cutting-edge therapies. Being among the first countries globally to provide access to this treatment through robust clinical governance pathways reflects our commitment to ensuring children and their families receive world-class care close to home.”

The Gene Therapy Center under the Genetic and Genomic Medicine Clinic at Sidra Medicine is dedicated to delivering life-saving treatments for rare genetic disorders. Its multidisciplinary team - including geneticists, neurologists, therapists, pharmacists, and specialised clinicians - works collaboratively to provide comprehensive, patient-centred care.

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