Sidra Medicine Offers Rare Disease Treatment, Making Qatar Third Globally via Approved Pathways

Sidra Medicine

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

This 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 breaking down the amino acid phenylalanine.

PKU affects an estimated 1 in 23,930 newborns worldwide, with higher incidence reported in parts of Europe and the Middle East.

Sidra Medicine noted that traditionally, individuals diagnosed with PKU require lifelong adherence to a strict low-phenylalanine diet, along with specialized nutritional supplements. Without effective management, elevated phenylalanine levels are toxic to the brain and can cause severe 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 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 marks 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 and continues to play a critical role in providing advanced, regulated treatment options in the region.

Chair of Pediatric Medicine at Sidra Medicine, Dr. Ahmed Al Hammadi added: "This milestone reflects Sidra Medicine's leadership in paediatric 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 under the Genetic and Genomic Medicine Clinic at Sidra Medicine is dedicated to providing life-saving treatments for rare genetic disorders.

Its multidisciplinary team, including geneticists, neurologists, therapists, pharmacists, and specialized clinicians, works together to deliver comprehensive, patient-centred care.

(QNA)