Rare disease specialists talk resources, research and hope

A rare disease diagnosis can be grim for a patient; many of these uncommon conditions currently have few or no treatment options available. However, as presenters discussed during Outsourcing-Pharma’s recent Rare/Orphan Diseases, Special Patient Population​ online event, there are promising developments in the works, thanks to the contributions of patient advocacy groups, regulatory resources, and pharma firms focused on rare/orphan treatments.

The first speaker, Dominique Pichard, chief science officer of the International Rett Syndrome Foundation, shared insight about the patient advocacy and research organization’s mission, and the disease at the center of the group. The condition is a rare neurogenetic disease that impacts approximately one in 10,000 female babies, begins presenting symptoms at six to 18 months old, and causes patients to lose the ability to speak, walk, and control their movement, while cognitive ability remains unimpacted.

Pichard told the audience the foundation’s research activity includes a natural history study, funded with money from the National Institutes of Health (NIH), that has approximately 15 years of longitudinal data collected.

“This has been critical for shaping not only the existing trends, clinical trials, but future clinical trials, because it offers the most fundamental information for how Rett syndrome progresses over time, examining all aspects of everyday living with Rett syndrome to determine the disease's progression​,” she said. “With more than 1,700 participants in 14 clinical locations, the natural history study covers diverse age, severity, and geographic location within the US​."

While the foundation and other entities have been in pursuit of a treatment for Rett syndrome, Pichard added, there still is an “immense unmet need​” in therapies for patients living with the condition.

“Currently, there is no treatment and no cure for Rett syndrome, but there is hope​,” she commented, added that researchers have made notable strides toward understanding the disease and establishing a “robust clinical infrastructure” to research Rett syndrome and potential treatments.

Sanjeev Luther, president and CEO of Rafael Pharmaceuticals, discussed his company’s pursuit of treatments for rare cancers, and the opportunities that exist for researchers and drug developers working in the orphan and ultra-orphan disease realm.

Luther touched upon the significant challenges sites and sponsors face when recruiting study participants for a condition that only impacts a small section of the overall patient.

“Often, it is very difficult to find these patients​,” Luther said. “It’s like finding a needle in a haystack​.”

Then, he added, patients frequently get misdiagnosed, they face mobility challenges, they live far from the site—myriad obstacles must be considered in the trial design and planning.

“Most of these trials fail in terms of retaining the patients because you have fewer patients, and how do you get to them? How do you make them comply so that they keep coming back to get treated? That continues to be a challenge​,” Luther said.

While dealing with regulators can be complex, Luther said, having a good working relationship with bodies like the US Food and Drug Administration (FDA) can be helpful.

“I have to say I have been working very well with the FDA—in fact, we have a very, very good relationship with the FDA, and that is not an issue​,” he said.

Teresa Rubio, health scientist administrator with the FDA’s Office of Orphan Products Development (OOPD), outlined the resources and programs the department offers researchers and pharmaceutical firms that are focused on rare/orphan diseases. Her presentation served to explain the OOPD’s overall mission, outline the definition of rare-disease conditions spelled out in the Orphan Drug Act, and share incentives associated with the Orphan Drug Act.

The purpose of the OOPD, Rubio said, is spelling out what a rare/orphan disease is to create a common understanding, and to offer programs that encourage the development of treatments for conditions that meet the definition.

“Its vision is the availability of safe and effective products for patients who live with rare diseases​,” she explained. “OOPD’s mission is to advance both the evaluation and development of products, which includes drugs, biologics, devices, or medical foods that demonstrate promise for the diagnosis and or the treatment of rare diseases or conditions​.”

One of the incentives is to offer funding that puts research and development of rare-disease drugs in closer financial reach.

“The Orphan Drug Act provides grant funds to help assist in the research towards marketing approval of promising therapies for rare disease patients​,” Rubio explained. “The program is widely recognized as successful as it has facilitated over 70 product approvals for rare diseases​.”

Rubio added that since 2016, OOPD has received more than 500 new requests for orphan drug designations each year. Further, 2020 reportedly was a record-breaking year, with 753 requests received.

For more insights and information from these experts, check out the on-demand webinar here​.