Sidra Medicine Announces Regional First in Access to Sepiapterin Treatment for Phenylketonuria (PKU)

Qatar becomes the first country in the Middle East to administer treatment through regulated clinical pathways

Doha, Qatar – 30 December 2025 — Sidra Medicine has become the first hospital in the Middle East to facilitate access to sepiapterin, an advanced pharmacological treatment for patients living with Phenylketonuria (PKU). With this achievement, Qatar is now the third country globally—after Germany and the United States—to administer sepiapterin through regulated 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 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.¹ Traditionally, individuals diagnosed with PKU require lifelong adherence to a strict low-phenylalanine diet, along with specialised nutritional supplements. Without effective management, elevated phenylalanine levels are toxic to the brain and can lead to severe neurological complications, including developmental delays, seizures, behavioural challenges, and learning disabilities.

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 represents another significant milestone delivered through Sidra Medicine’s Gene Therapy Center, which was launched in January 2025 under the Genetic and Genomic Medicine Clinic. The Center was established to advance access to innovative and life-saving therapies for children with rare and complex genetic conditions and continues to play a critical role in expanding regulated treatment options available in the region.

Dr. Ahmed Al Hammadi, Chair of Pediatric Medicine at Sidra Medicine, 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.”

Sepiapterin offers a new therapeutic approach by acting as a precursor to tetrahydrobiopterin (BH4), a critical cofactor for the enzyme phenylalanine hydroxylase (PAH). By increasing BH4 levels and stabilising PAH activity, sepiapterin helps reduce elevated phenylalanine levels in the blood. Clinical studies have demonstrated significant reductions in blood phenylalanine with sepiapterin treatment, potentially allowing for a less restrictive diet and improved metabolic control.

The patient’s care at Sidra Medicine was managed by a multidisciplinary team including specialists in Clinical Genetics and Metabolic Medicine, Pharmacy Services, Nursing, and metabolic dietetics. As part of its ongoing clinical programme, Sidra Medicine is currently reviewing and reassessing all other patients with PKU under its care. Approximately ten additional patients are currently in the clinical pipeline and are being evaluated to determine the most appropriate individualized treatment approach.

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 of geneticists, neurologists, therapists, pharmacists, and specialised clinicians are committed to delivering comprehensive, patient-centred care.Sidra Medicine’s services extend to patients from across the GCC and wider region, including Kuwait, Iraq, Iran, Libya, and North Africa. For international patient inquiries, please contact: International.services@sidra.org