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People with Rare Diseases Hope Banding Together Will Help Their Cause

Often neglected by biotech and pharmaceutical companies, coalition hopes lobbying will lead to more treatments

Duchenne Muscular Dystrophy

With a healthcare system that’s often geared toward treating those with more common diseases, patients with rare ailments can struggle to get the attention necessary to develop treatments.

But a new state-based coalition of different rare-disease groups is hoping to find strength in numbers -- and has reason to be optimistic. With an estimated 10 percent of Americans having rare diseases, their combined lobbying might get the attention of the biotechnology and pharmaceutical companies with the potential to develop treatments.

The New Jersey Rare Disease Alliance brought patient advocates and industry experts together in Trenton on Monday to mark Rare Disease Day.

Building an alliance between patients advocates and researchers is important, according to Stuart W. Peltz, CEO of PTC Therapeutics, a South Plainfield-based company that’s developed a new treatment for Duchenne muscular dystrophy, a rare disease that causes muscle degeneration and eventually death.

Peltz said patient advocates can push for funding to helping researchers gather data on how diseases progress, which makes it easier to study whether potential treatments are working in clinical trials.

He said PTC started working with patients and their families 10 years before it developed a new drug. This helped increase knowledge of the disease among regulators and other public officials. He noted that rare disease treatments can face a difficult path to regulatory approval, since regulators often are unfamiliar with both the diseases and the types of treatments being developed.

“What was important here was how powerful and how important the patients and the advocacy groups really were,” in increasingly knowledge about the potential benefits of a new treatment, said Peltz, current chairman of life-sciences trade group BioNJ.

Peltz added that in his experience, while it may take years, the government ultimately is responsive to rare disease treatments.

“We as a society won’t allow people with a disease not to be treated and if there’s something we can do we will do that,” Peltz said. “It doesn’t come easy -- it comes with a lot of battling and fighting to make sure our voices are heard.”

Fewer than 500 of the roughly 7,000 rare diseases – which are defined as diseases that affect fewer than 200,000 Americans – have treatments, which is adding to the urgency that brought the new alliance together. Of these diseases, 80 percent have a genetic basis, and most affect children. Of the most common rare diseases, 27 percent cause the death of babies in their first year of life.

Pharmaceutical companies frequently aren’t focused on rare diseases, due to the small number of patients involved. But some higher-priced medications have proven profitable, and some companies are looking to develop drugs that can treat multiple rare conditions.

Diane Dorman, vice president of the National Organization for Rare Disorders, noted that it can take visits to a number of doctors before a rare disease is diagnosed, with such a diagnosis typically taking seven years.

Beyond that, the process of enrolling in clinical trials can be difficult, since the trials could be occurring on the other side of the country. For the most rare diseases, “you may never meet someone else with the disease,” Dorman noted.

The New Jersey Rare Disease Alliance is working to build a state-level policy agenda, according to alliance member Julie Raskin, whose teenage son Ben has congenital hyperinsulinism, a rare disorder that leads to severe and prolonged low blood-sugar levels.

While the group hasn’t taken public positions yet, Raskin said it’s exploring a Kentucky law that limits copayments to no more than $100 per month, as well as the issue of “narrow” insurance networks, which have fewer providers. In addition, the coalition aims to ensure that families are aware of what’s needed to overcome obstacles to receiving care, such as being able to go outside of an insurance network when it’s medically necessary.

“We need to be at the table, not just with legislators,” but with insurance regulators, Raskin said. That includes participating in talks over reforming health benefits for state workers.

“We need to make sure that those state workers’ kids can go to CHOP if they need to,” she said, referring to the Children’s Hospital of Philadelphia.

Dr. Charles Stanley, who is based at CHOP, noted that rapid advances are occurring to treat some rare diseases. Doctors can now use genetic testing to predict which patients with congenital hyperinsulinism will respond to which treatments. Roughly 50 percent of babies with the disease can have lesions cut from their pancreas, curing them of the condition.

Dean Paranicas, president and CEO of pharmaceutical trade group the Healthcare Institute of New Jersey, said rare disease groups have natural allies with pharma companies in pushing for increased insurance reimbursements and access to medications.

Raskin added that each individual rare-disease group can lack power at the state level, but “together, we’re a force.”

“When we are just too small, we don’t have a voice,” she said.

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