NPS Pharmaceuticals, a specialty pharmaceutical company developing innovative therapeutics for rare gastrointestinal and endocrine disorders, announced today its support for the second annual U.S. Rare Disease Day observance on February 28. Rare Disease Day aims to call attention to the 7,000 rare diseases affecting people throughout the world, including nearly 30 million Americans.
“The quality of my life would improve substantially if a new treatment could allow me to avoid my PN-infusions for even one night a week.”
“Patients with rare diseases are a medically underserved population in every country,” said Francois Nader, M.D., president and chief executive officer of NPS Pharmaceuticals. “At NPS, we have dedicated ourselves to developing drugs that target the underlying cause of rare diseases. We are currently focused on two serious orphan conditions: short bowel syndrome (SBS) and hypoparathyroidism, and are developing GATTEX® (teduglutide) and NPSP558, respectively, to address the serious unmet needs of patients with these rare disorders. Patients with both of these conditions face significant challenges and current palliative treatments are associated with serious co-morbidities.”
SBS typically arises after a significant bowel resection, usually due to Crohn’s disease or cancer. Without enough bowel to naturally support their nutritional needs, these patients are left dependent on infusions of parenteral nutrition (PN), the cost of which can exceed $100,000 annually per patient. PN use is associated with potentially life-threatening complications including sepsis and liver damage, and reduced quality-of-life due to the time required for and consequences of frequent access to an intravenous pump.
“Because of my need for infusions, I never get a full night’s sleep. It’s been like caring for a newborn baby for over 28 years without a break,” said Tom Sanford, a Vietnam-era veteran who underwent two bowel resections because of Crohn’s disease in the early 1980s. With only 18-inches of small bowel left, Sanford, a soil conservationist from upstate New York, has been dependent on nightly infusions of PN ever since his last surgery in 1982. “The quality of my life would improve substantially if a new treatment could allow me to avoid my PN-infusions for even one night a week.”
NPS is currently enrolling patients in a Phase 3 study of GATTEX (teduglutide) known as STEPS. STEPS is an international, double-blind, placebo-controlled safety and efficacy study to confirm previously-reported data that showed GATTEX was well tolerated and had a beneficial impact on reduced PN dependence in short-bowl syndrome patients.
The company is also currently enrolling hypoparathyroidism patients into REPLACE, a double-blind, placebo-controlled Phase 3 registration study aimed at demonstrating that once-daily subcutaneous dosing with NPSP558 over a period of 24 weeks is a safe and effective treatment for patients with this rare condition.
Hypoparathyroidism is a rare hormone deficiency disorder in which patients are physiologically unable to regulate the levels of calcium and phosphates in their blood due to insufficient levels of endogenous parathyroid hormone, the body’s principal regulator of serum calcium and phosphate levels. Hypoparathyroidism can lead to low blood calcium or hypocalcemia, leading to weak bones and other serious neuromuscular complications such as, tetany, seizures or altered mental status. Patients currently manage hypocalcemia with high doses of calcium and vitamin D analog supplements. Unfortunately, long-term use of high doses of calcium can lead to organ calcification and kidney failure. If approved, NPSP558 would be the first hormone replacement therapy to target the root cause of hypoparathyroidism and return the body to a physiological state.
In 2001, doctors found a tumor on one of Terri Dempsey’s four parathyroid glands – and after two surgeries, all four of the Lakeland, Florida-resident’s parathyroid glands had been removed.
“I was told to go home and take calcium supplements,” she said. “Three days later, my 14-year old daughter found me in full seizures. For the next three years, as everyone from psychiatrists to infectious disease specialists struggled to understand the cause of my seizures, I went to the emergency room hundreds of times and endured brutal and unnecessary treatments. The seizures caused me to lose brain function to the point where I had to re-learn how to perform common daily activities like grocery shopping.”
Eventually, doctors confirmed that Dempsey had hypoparathyroidism.
Dempsey entered a Phase 2 study of NPS’s NPSP558 at Columbia Presbyterian Hospital in New York.
“Had I not been able to get to New York to receive this medication, I have no doubt that I would not be alive today,” she said. “Also, I don't have to endure the constant seizures.”
An orphan indication for a rare disease is defined as having fewer than 200,000 patients in the United States.
“We are dedicated to working with key patient groups like the National Organization for Rare Disorders (NORD) to increase awareness of conditions like SBS and hypoparathyroidism so both patients and physicians understand these diseases and recognize the symptoms,” Dr. Nader said. “The development of safe and effective treatments for rare diseases is a unique collaboration in which companies like NPS work with partners in the patient community and research to improve the lives of those affected. We’re pleased to put our support behind Rare Disease Day.”