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Patients Play Growing Role in Developing Treatments for Rare Diseases

Pharmaceutical companies say advocates and families are changing how they work

patient advocate
State Trooper Wayne Blanchard (left), Assemblywoman Annette Quijano, Ciara, and her father, Trooper Brian Kerrigan.

Hours had passed and the hearing room had nearly emptied by the time New Jersey State Trooper Brian Kerrigan finally got his chance to tell state lawmakers about the devastating impact Prader-Willi disease has on his daughter, Ciara, and their family.

But Kerrigan patiently described the challenges of raising a child with a complex genetic disorder that impacts growth and development and calmly urged the panel to support a resolution designed to build awareness of the condition, which affects fewer than 15,000 people nationwide, including many children.

“Without awareness, there is no funding; without funding, there is no research; without research, there is no cure; without a cure, there is no hope,” he testified. “We need to work together to make sure there is always hope.”

While it may be a lonely journey, patients, family members, and other advocates are having a growing impact on the work of pharmaceutical companies, especially those pursuing treatments and cures for rare diseases. Collaborations between those who speak for the suffering and companies pursuing cures can help connect patients with greater options for care, while enabling drug companies to better target their resources, according to those involved.

On Friday, BioNJ, an organization that represents more than 400 life-science companies in the Garden State, hosted its first patient advocacy conference at Celgene Corp. in Summit. The event featured representatives from a number of New Jersey’s pharma giants, including Merck and Pfizer; advocacy experts from the Hyacinth Foundation, which represents those with AIDS; patients working to raise awareness about their own conditions; and state lawmakers, including Assemblyman Herb Conaway, (D-Gloucester), who chairs the health committee.

“It was a highly interactive day where industry and patient advocates of all types were able to network and discuss the need for patient input throughout the drug development process,” said Debbie Hart, the president and CEO of BioNJ.

Jayne Gershkowitz, chief patient advocate for Amicus Therapeutics, who moderated the morning session, said the summit was the latest development in an ongoing movement to better involve patients in drug creation, testing, and marketing. In 2012, BioNJ launched a series of discussions on this topic, held a webinar, and drafted a white paper that outlined the growing role of patient advocacy.

Some companies, like Amicus — whose CEO John Crowley’s quest to find a cure for his two children, who suffer from Pompe Disease, inspired the 2009 movie “Extraordinary Measures” — have long focused on patient needs, Gershkowitz said. The Cranbury-based company is working primarily on treatments for a trio of rare diseases: Fabry Disease, Pompe Disease, and Epidermolysis Bullosa (EB).

“We place the patient and caregivers at the center of our model,” Gershkowitz said.

Patient advocates — including sick individuals, their loved ones, and the organization they have come together to found in hopes of finding better treatment options — have for years played a critical role in finding solutions to rare or “orphan” diseases, Gershkowitz added. In the early 1980s, when HIV and AIDs were largely unknown outside the gay community, the passionate personal stories of those affected were critical to securing attention and funding for research, she said. “Patient advocacy has really come from the rare disease space,” she said.

According to the National Organization for Rare Disorders, or NORD, a rare disease is one that affects fewer than 200,000 people in the United States. With more than 7,000 conditions that fall into this category, one in 10 Americans, some 30 million, face a lifelong health challenge as a result. Patients are frequently undiagnosed or misdiagnosed and only 5 percent of these rare diseases have identified treatments, NORD reports.

That dynamic is starting to change, in part due to patient advocacy. In recent years, one-third of all new drugs approved by the Federal Drug Administration have targeted rare conditions, according to NORD.

Pharmaceutical companies pursuing treatments for more common maladies are also seeking greater patient participation, experts said. In its 2012 white paper, BioNJ noted that a survey of 75 of its members found more than three-fourths had established a patient advocacy program or were considering such an effort. But not all these pharma companies had followed through on this concept; fewer than one in five had dedicated staffing to the cause, and two in five spent less than $50,000 on the program.

While patients gain access to new therapies and other resources, pharma companies also benefit from collaborating with patients on the development, trial, and launch of new products, experts noted. Patients can help companies identify unmet healthcare needs — especially when these relate to rare conditions focus their investment, define clinical trials, and encourage participation. And regardless of the disease, patients can inspire scientists with their personal stories, help the company manage patient expectations, and create a network for future feedback.

As the life-science industry continues to advance the discovery and development of new therapies and cures, research-based companies are faced with tackling even more complex and difficult-to-treat diseases. As part of their efforts, companies are beginning to recognize the value of bringing together researchers, patients, caregivers, and advocacy groups in a unified and comprehensive way to meet a common goal,” wrote BioNJ president Hart and board chairman Dr. Francois Nader in the white paper’s introduction. “Developing these relationships among all these parties is vital for advancing drug discovery and development — because patients can’t wait.”

There is no cure yet for Prader-Willi, and treatment largely involves behavior modification and constant supervision, Kerrigan told the Assembly health committee in September. The condition, which leaves patients feeling chronically hungry, can impact growth, metabolism, and cognitive function, and often leads to severe obesity. It is usually caused by a little-understood genetic error that occurs equally in both sexes and all races.

But in New Jersey, support is building for a resolution to designate May as Prader-Willi Awareness Month. The Assembly panel passed the measure (AJR-111), sponsored by Assemblyman Jay Webber (R-Morris) and Annette Quijano (D-Union), with unanimous support; a Senate version was introduced by Sen. Joseph Vitale (D-Middlesex).

“This disorder is often misdiagnosed because the medical community is unfamiliar with the syndrome,” Webber said after the vote. “That’s why this resolution is important. Delaying early diagnosis and treatment may increase the number of challenges children experience, so increasing the public’s awareness about PWS is critical.”

Prader-Willi is not alone. NORD maintains a database of thousands of rare diseases, dozens of which have been recognized with their own month or day. And February 28 is Rare Disease Day, designed to raise awareness about the need for treatments for the tens of millions of patients and families impacted by these less well-known conditions.

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