Orsini Selected as Specialty Pharmacy Partner for PTC Therapeutics’ SEPHIENCE™ (sepiapterin)
SEPHIENCE is an FDA-approved oral therapy for the treatment of phenylketonuria (PKU)
ELK GROVE VILLAGE, Ill., July 30, 2025 /PRNewswire/ — Orsini, a leader in rare disease pharmacy solutions, has been chosen by PTC Therapeutics as a specialty pharmacy partner for SEPHIENCE™ (sepiapterin), an FDA-approved oral therapy indicated for the treatment of hyperphenylalaninemia (HPA) in adult and pediatric patients 1 month of age and older with sepiapterin-responsive phenylketonuria (PKU). Read the full Prescribing Information here.
PKU is a rare genetic disorder characterized by an inability to metabolize the amino acid phenylalanine (Phe), which causes Phe to accumulate in the body. As a result, those living with PKU can experience a wide variety of symptoms if left untreated, including severe brain damage and intellectual disabilities. In clinical trials, SEPHIENCE treatment resulted in highly significant and meaningful reductions in blood Phe and the ability of patients to increase protein intake. SEPHIENCE represents a complementary addition to Orsini’s growing specialty pharmacy Endocrinology Center of Excellence. It is to be used in conjunction with a Phe-restricted diet.
“Since we first began partnering with PTC in 2020, we’ve shared deep commitment to offering exceptional service and care and to facilitating access to innovative treatments to the rare disease community,” Brandon Tom, Orsini’s CEO, said. “SEPHIENCE gives us an exciting opportunity to continue that collaboration as we help the PKU community access this important new treatment as quickly as possible.”
About Orsini
Providing patients with comprehensive and compassionate care since 1987, Orsini is a leader in rare diseases and gene therapies. Orsini partners with biopharma innovators, healthcare providers and payors to support patients and their families in accessing revolutionary treatments for rare diseases. Through integrated rare disease pharmacy solutions including pharmacy distribution, patient services, clinical management and convenient home infusion services, Orsini simplifies how patients connect to advanced therapies. Orsini’s high-touch care model centers on experienced and trained therapy care teams that provide personalized patient care to ensure that No Patient is Left Behind™.
Orsini holds accreditations with the Accreditation Commission for Health Care (ACHC), The Joint Commission, URAC and NABP. Orsini has earned URAC’s Rare Disease Pharmacy Center of Excellence Designation and ACHC’s Distinction in Rare Diseases and Orphan Drugs. For more information, visit www.orsini.com.
Orsini Contact
Morgan Olson
molson@orsinihc.com