Tim Frank’s daughter Ella was born in 2010 and just before her second birthday was diagnosed with Rett Syndrome, a rare neurological condition. Her doctor told Frank and his wife that she would never walk or talk, and that they would know more about the syndrome than anyone they ever met.

The physician referred them to the online database of research papers PubMed to learn more. “I don’t know if you’ve ever been on PubMed,” he said, “but it’s not a lay person’s resource.”

Though his family has health insurance, each year they max out their out-of-pocket spending and hit their deductible. Their house is filled with specialized equipment that are either borrowed, or on loan from the school system, or hand-me-downs. And as Ella grows, there’s a need to replace existing equipment and get new pieces. Interrupted sleep is typical as the couple monitors for seizures or Ella wakes because of health-related complications.

“Not much is known right now about the overall burden and we’re hoping that it will provide some crucial and objective information to be able to share with policymakers, with payers, with healthcare systems, and decision-makers, so that we can better support and provide resources for those living and affected by Rett syndrome, their patients and their caregivers,” said Frank, who is director of marketing and communications for Rettsyndrome.org.

The information vacuum that exists on many rare diseases comes with multiple consequences. It is requiring drug developers to look beyond the clinical data they gather about their therapies as they think past regulatory approval toward reimbursement. At the end of October, the drug developer Newron Pharmaceuticals began reaching out to patients for the first global Rett Syndrome burden of illness survey, which was billed as the largest, most comprehensive qualitative study ever to examine the burden of Rett syndrome on individuals and their caregivers.

Rett syndrome primarily affects females starting at a very young age. It leads to a loss of fine and gross motor skills, cognitive dysfunction; and the loss of the ability to speak, walk, and carry out other daily life activities. About 70 percent of people with the condition also suffer from apnea, hyperventilation, and disordered breathing. The condition is associated with a reduced life expectancy and there are no approved therapies.

Newron is developing an experimental drug called Sarizotan, which is in a potentially pivotal study. The drug, which is being developed to treat respiratory symptoms associated with Rett syndrome, modulates the activity of specific receptors in the brain.

The survey outreach, already launched in the United States, will expand to Europe and Australia in early 2020. It will gather data and analytics from 750 families in as many as six countries to quantify the physical, emotional, and financial challenges of Rett syndrome on patients, their families, caregivers, and the entire Rett patient community. An international clinical research organization is conducting the burden of illness survey in collaboration with Rett syndrome advocacy groups worldwide, along with an advisory panel of experts comprised of physicians, caregivers, advocacy representatives, and academic researchers.

The survey will include current primary caregivers of at least one girl or woman with Rett syndrome who is being cared for at least 10 hours per week; and healthcare providers (including physicians, nurses, and allied healthcare professionals) who have treated at least five individuals with Rett syndrome in the past five years as part of their practice.

While the results will help identify and guide improved intervention programs and services designed to complement the Rett care pathway, Newron hopes it will help it make the case to payers for the value of its therapy now in development. It suggests the growing need for drug developers to think beyond the clinical data of its therapies to make their case for pricing.

Dennis Dionne, vice president of commercial affairs for Newron, said he’s talked to payers in different countries to see what they need to understand about the burden of a disease, as well as understand the treatment and management of different symptoms associated with Rett syndrome. It’s part of the company’s effort to build the dossier they will need to convince payers of their drugs’ value, but also provide the Rett syndrome community and other drug developers with an important base of information with which to work.

The lack of understanding about rare conditions such as Rett syndrome can lead to somewhat arbitrary decisions about drug reimbursement. Dionne said in the absence of a strong understanding of rare conditions payers often take a “shoot-from-the-hip” approach on pricing and reimbursement. The more targeted information Newron can put together with payers’ needs in mind, the better the company will be able to make a case for the value of its therapy and ensure access for patients who can benefit.

“No longer will a pharmaceutical company be able to place a price on a drug and have that sanctioned by all,” said Dionne. “We’re making sure through all these development processes that we address the pharmaco-economic part of developing a drug, not just the science part of developing my drug.”

Photo: Tim Frank, director of marketing and communications for Rettsyndrome.org

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