Sanford Childrens Offers Patients with Rare Disease Early Access to Investigational Drug

Sanford Children’s Hospital announced today that the first patient has initiated treatment in an expanded access program for sapropterin dihydrochloride, or sapropterin, an investigational treatment for phenylketonuria (PKU), a rare genetic metabolic disorder that, if left unmanaged in infants and children, can result in severe mental retardation.

Sanford Children’s Hospital announced today that the first patient has initiated treatment in an expanded access program for sapropterin dihydrochloride, or sapropterin, an investigational treatment for phenylketonuria (PKU), a rare genetic metabolic disorder that, if left unmanaged in infants and children, can result in severe mental retardation. Under an expanded access program, the U.S. Food and Drug Administration (FDA) allows early access to drugs that are being developed to treat serious diseases based on certain circumstances.

Individuals with PKU are born with a deficient enzyme called phenylalanine hydroxylase (PAH). With little or no PAH activity, they are unable to metabolize an essential amino acid, called phenylalanine (Phe), which is found in most foods including meat, eggs, dairy, nuts, pasta, bread and all fruits and vegetables. When Phe cannot be metabolized by the body, abnormally-high levels of it accumulate in the blood and are toxic to the brain, potentially causing brain damage that can result in severe mental retardation, seizures, tremors, phobias and general mental and behavioral decline. The only way that PKU patients can manage their disorder is by monitoring their daily intake of Phe; however, compliance with diet is a major problem for PKU patients due to limited food choices, the social limitations of following a strict diet, the poor taste of required formulas, and the availability and cost of specially-produced low-Phe foods.

“By making sapropterin available through expanded access, we hope patients living with PKU will experience lower Phe levels and increased Phe tolerance” said Laura Davis-Keppen, M.D. with Sanford Children’s. “Since elevated Phe levels are toxic to the brain and can lead to severe health complications, we are encouraged that there may be a new drug treatment designed to manage Phe levels in this patient population. One of the most exciting aspects of this new drug is that patients with PKU may be able to enjoy foods that have never been allowed before. This is an entirely new concept in treating PKU.”  Patients with a confirmed diagnosis of hyperphenylalaninemia due to PKU who are older than 8 years of age, not currently enrolled in a clinical study with sapropterin, meet the inclusion criteria, and do not meet any of the exclusion criteria may be eligible to participate in this program.

Patients and their families who need more information can call Sanford Children’s Specialty Clinic at 1-800-850-0064 or (605) 333-7188

About Sapropterin
Sapropterin (if approved by the FDA, the brand name is expected to be Kuvan™) is an investigational oral small molecule therapeutic for the treatment of PKU. In Phase 3 clinical studies, sapropterin has been shown to lower blood Phe levels and increase Phe tolerance in patients with PKU. A new drug application for sapropterin was submitted to the FDA in May 2007 by BioMarin Pharmaceutical Inc., and if granted priority review status, sapropterin could receive approval by the end of 2007.

About PKU
It is estimated that approximately 12,000 infants in the United States are born with PKU, and about 50,000 people younger than 40 have the disorder in the developed world. It is one of the most common genetic metabolic disorders. To learn more about PKU, please visit www.PKU.com.  

About Sanford Children’s
Part of Sanford Health, Sanford Children’s Hospital has the most comprehensive and diversified pediatric care in the region, and is the region’s only Children’s Miracle Network affiliated hospital. The comprehensive team at Sanford Children’s includes 14 pediatricians, 30 pediatric subspecialists, over 100 family medicine physicians and a over 300 specially trained pediatric staff.

About Sanford Health
Sanford Health’s comprehensive, integrated system includes more than 360 physicians in 115 clinics, 24 hospitals, 13 nursing homes, 17 assisted living facilities and congregate living locations, 27 home health services and 19 pharmacies. With some 12,000 employees, Sanford Health is the largest employer in the region. Its primary 500-bed nonprofit tertiary care hospital in Sioux Falls, SD, serves an average of more than 50,000 inpatients annually. With more than a million outpatient visits each year, Sanford Health has served the 60,000 square mile, four-state region of South Dakota, Iowa, Minnesota and Nebraska for over 110 years. Sanford Health is the largest healthcare system between Mayo Clinic in Rochester, MN, and Denver, CO. Its divisions include Sanford USD Medical Center, Sanford Clinic, Sanford Health Network, Sanford Health Plan and Sanford Health Foundation.