Doha, Qatar – Sidra Medicine has achieved a significant medical breakthrough by offering sepiapterin treatment to patients diagnosed with Phenylketonuria (PKU), a rare genetic disorder. This makes Qatar only the third nation globally, following Germany and the United States, with established clinical and regulatory frameworks for providing this therapy. The first successful administration of sepiapterin was recently completed with a 12-year-old Qatari girl.
The introduction of sepiapterin treatment at Sidra Medicine, announced this week, provides a new therapeutic option for individuals with PKU. The condition affects the body’s ability to process phenylalanine, an essential amino acid, potentially leading to serious neurological problems if left untreated. This development represents a substantial advance in metabolic disease care within the country.
Understanding Phenylketonuria and the Role of Sepiapterin
Phenylketonuria (PKU) is an autosomal recessive genetic disorder, meaning an individual must inherit two copies of the defective gene – one from each parent – to develop the condition. Worldwide, the estimated incidence is approximately 1 in 23,930 newborns, though rates are notably higher in certain European and Middle Eastern populations, according to data from the National Institutes of Health.
Traditionally, PKU management has relied primarily on a strict, lifelong diet severely restricting phenylalanine intake. This dietary control is vital to preventing intellectual disability and other complications. However, maintaining such a restrictive diet can be challenging, particularly for older children and adults, significantly impacting their quality of life.
Sepiapterin is a synthetic form of a naturally occurring co-factor crucial for the enzyme phenylalanine hydroxylase (PAH), which is deficient in most individuals with PKU. By supplementing with sepiapterin, the body may be able to partially restore PAH activity, allowing for a greater tolerance of phenylalanine and potentially easing dietary restrictions. This represents a significant shift in metabolic disorder treatment.
Sidra Medicine’s Gene Therapy Center and its Contribution
This accomplishment is linked to the ongoing expansion of Sidra Medicine’s capabilities in genomic medicine. The Gene Therapy Center, launched in January 2025, is dedicated to advancing the diagnosis and treatment of genetic conditions, with PKU as a key focus. The Center has been instrumental in navigating the complex regulatory approvals needed to introduce sepiapterin into Qatar’s healthcare system.
Prof. Tawfeg Ben-Omran, Division Chief of Genetics and Genomic Medicine at Sidra Medicine, emphasized the importance of this development, stating that it can “significantly reduce the lifelong burden of strict dietary therapy and improve quality of life.” According to a Sidra Medicine press release, the center worked closely with international experts and regulatory bodies to ensure safe and effective implementation of the treatment protocol.
The approval process required extensive data validation and adherence to stringent international standards. The availability of this therapy locally minimizes the need for patients to travel abroad for specialized care, offering convenience and continuity of treatment. This also promotes Qatar’s growing role in providing advanced genetic therapies to the region.
While sepiapterin is not a cure for PKU, it offers a valuable alternative for patients who don’t respond sufficiently to dietary management or struggle with adherence. Early intervention and consistent monitoring are crucial to maximizing the benefits of sepiapterin therapy and managing potential side effects.
Currently, access to sepiapterin at Sidra Medicine is being offered to carefully selected patients based on specific genetic profiles and clinical evaluations. The long-term effects and optimal treatment protocols for sepiapterin are still being studied globally, and Qatar’s experience will contribute to this growing body of knowledge.
Looking ahead, Sidra Medicine intends to continue expanding its range of therapies for inherited metabolic diseases. Researchers are actively investigating promising new treatments and actively participating in international clinical trials. The ongoing evaluation of sepiapterin’s efficacy in the Qatari patient population will be closely watched, alongside efforts to increase awareness and early detection of rare diseases like PKU throughout the country.
