Sidra Medicine pioneers access to Sepiapterin for Phenylketonuria patients in Middle East

QATAR—Sidra Medicine has become the first hospital in the Middle East to provide access to sepiapterin, an advanced pharmacological treatment for patients living with phenylketonuria (PKU).

The achievement marks another milestone for Qatar’s healthcare system, coming just days after Sidra Medicine successfully completed the country’s first pediatric allogeneic hematopoietic stem cell transplantation (HSCT). 

With this breakthrough, Qatar joins Germany and the United States as one of only three countries worldwide to deliver sepiapterin through regulated clinical and governance pathways.

The first successful administration of the treatment was performed on 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 approximately one in 23,930 newborns globally, with higher prevalence in parts of Europe and the Middle East.

Managing the condition traditionally requires strict lifelong adherence to a low‑phenylalanine diet along with specialized nutritional supplements.

Without proper control, high levels of phenylalanine can damage the brain and lead to serious complications such as developmental delays, seizures, behavioral difficulties, and learning disabilities. 

Prof. Tawfeg Ben‑Omran, Division Chief of Genetics and Genomic Medicine at Sidra Medicine, explained that access to sepiapterin represents a transformative step in the treatment of PKU.

He noted that this therapy can substantially ease the burden of dietary restrictions and improve the quality of life for both children and adults affected by this rare condition.

Prof. Ben‑Omran emphasized that Sidra Medicine’s multidisciplinary team remains committed to providing safe, evidence‑based care while guiding families through personalized treatment decisions. 

The introduction of sepiapterin builds on the growing success of Sidra Medicine’s Gene Therapy Center, launched in January 2025 under the Genetic and Genomic Medicine Clinic.

The Center is dedicated to expanding access to innovative, life‑saving therapies for children with rare and complex genetic disorders across the region. 

Dr. Ahmed Al Hammadi, Chair of Pediatric Medicine at Sidra Medicine, highlighted that this achievement reaffirms Qatar’s position as a regional leader in pediatric rare‑disease care.

He added that providing such treatments under robust clinical governance ensures that families can access world‑class care close to home. 

Sepiapterin serves as a precursor to tetrahydrobiopterin (BH4), a vital cofactor that supports the activity of phenylalanine hydroxylase (PAH).

By boosting BH4 levels, the therapy helps stabilize PAH activity, lower phenylalanine concentrations, and allow for a more flexible diet with improved metabolic control. 

The treatment for the young patient was managed by a multidisciplinary team of experts in clinical genetics, metabolic medicine, nursing, pharmacy services, and metabolic dietetics.

Sidra Medicine is now reviewing all PKU cases under its care, with around ten additional patients currently being evaluated for personalized treatment.

The hospital continues to serve patients from Qatar and across the GCC, including Kuwait, Iraq, Iran, Libya, and North Africa.