“Our mission aligns closely to some of the goals of our industry partners. We are both striving for improved care and better lives for patients,” said Jablonski, who was born missing most of his intestines and has the rare condition known as short bowel syndrome. “We are working with partners and cultivating them as best we can, because we are in favor of innovation that brings out new, improved treatments that can improve the quality of life for SBS patients.”
Mary Frances Harmon, head of global advocacy for New Jersey-based NPS, said while social media has been a good tool for patients to feel connected to others with the disorder, many want to communicate on a more personal level. “Whether it’s through a face-to-face meeting or a conversation via telephone, we’ve learned that patients want to have the opportunity to have private conversations and to connect on a more personal level than through a group setting, virtually or live,” said Harmon. “In addition, as with many rare disease patients, many want to connect with those that are similar to them.”
The new project strengthens the partnership begun three years ago between SBSF and NPS, which has become a corporate partner with the foundation to support development of educational tools and programs. The relationship began before the approval of NPS’ drug Gattex, the first prescription medicine for the long-term treatment of adults who depend on intravenous support to get adequate fluids and nutrition.
Jablonski became an expert advisor for NPS, sharing first-hand information about living with the syndrome including the risks of dehydration and malnutrition, contributed to market research and advised on the development of educational information for a web site. He also relayed information from other SBS patients about what symptoms they hoped medications could improve and concerns about potential side effects. “I have been the person who is able to connect patients to the pharmaceutical industry to make their voices heard, and vise versa,” said Jablonski. “In rare disease, patients are scarce and difficult to find. We serve as a conduit between the SBS community and to some of the stakeholders the industry wants to reach.” Harmon said NPS can expand its relationship with SBSF in many ways, and that the evolution will be based on the needs of patients, particularly pediatric patients, which Jablonski said make up 89% of the SBS population. NPS is on track to initiate its global pediatric registration study for Gattex before the end of the year.
Harmon said SBSF will be a valuable partner in helping to make that program a success. “As an organization committed to pioneering and delivering therapies that transform the lives of patients with rare diseases worldwide, NPS is acutely aware of the importance of our relationships with the patient community, and that we must constantly be attuned to the voice of patients and their needs,” she said. “They are our most important constituents, so we aim to cultivate a constant stream of two-way dialogue with patients and their advocates.” The partnership is part of a growing movement toward patient groups becoming significant stakeholders in drug development, as they increasingly fund research, provide input into study design and help solicit participation from other patients in their particular disease community.
Perhaps the most successful model is the collaboration between the Cystic Fibrosis Foundation and Vertex Pharmaceuticals, which resulted in the orphan drug Kalydeco, which the FDA approved to treat a specific subgroup of cystic fibrosis patients. Harmon said it’s important for sponsors to work with patient groups through every step of development, from research to commercialization.
Patient groups can help design meaningful and relevant endpoints in clinical trials that accurately represent the experiences of the population, raise awareness about opportunities for clinical trial participation and, once a drug is approved, the groups are instrumental in helping other patients become aware of the new treatment option, since information and education for rare diseases are not as abundant as they are for mainstream conditions. “Feedback from the SBS Foundation and other advocates provide valuable insights that allow us to better understand this population and may also help us shape our development program,” said Harmon.
In addition, she said natural history studies from patient populations are important to help researchers and healthcare professionals better understand how a particular disorder is managed and treated, particularly in rare diseases. For SBS, which affects about 20,000 patients in the U.S., epidemiological data about the disease is limited. “The involvement of patient groups in such research can significantly impact enrollment and ultimately provide more comprehensive data for the medical community to learn from and, hopefully, improve patient care,” said Harmon.
The SBSF, which has 500 members and more than 3,000 followers globally on its Facebook page, also will publish a book next year sharing first-hand stories of 20 patients living with SBS to help the public and industry better understand the challenges the community faces. “We are willing to provide perspectives from our personal lives,” said Jablonski. “We want to be heard and are willing to tell our stories.” —Karyn Korieth
SBS Foundation & NPS Pharmaceuticals partner to connect, and eventually recruit, patients