While there are some 566 potential drugs targeting rare diseases in the pipeline, various regulatory, financial, and scientific hurdles continue to slow other important advances.
“We need better and more predictive biomarkers and surrogate endpoints,” Biogen CEO Dr. George A. Scangos told attendees at “Targeted Cures: A Policy Discussion on Treating Patients with Rare Diseases” in Washington, D.C. today. The event was sponsored by Pharmaceutical Research and Manufacturers of America (PhRMA).
While it is critical to maintain a balance between speed and efficacy, Scangos said clinical researchers and the broader industry need a new breed of biomarkers as required by the Food and Drug Administration (FDA) and other regulators. For example, Scangos asked if a drug in the research phase needs to show a survival benefit when it can take years to determine it. Conceding that the FDA is probably in a no-win situation, he nevertheless advocated for a new regulatory scheme that keeps pace with advances in the healthcare landscape. “Industry and FDA are not at odds” in terms of finding that balance, he added.
Sponsors, researchers, and the full range of healthcare professionals need a more transparent regulatory policy, echoed PhRMA President and CEO Stephen J. Ubl. Research into rare diseases is challenging enough as it is. “It’s tough to conduct clinical trials,” in part because the science for researching rare diseases presents such a “tangled puzzle,” Ubl told attendees. That’s just another reason that a comprehensive attack is so critical to advancing new drugs and devices targeting rare diseases, or those defined as impacting fewer than 200,000 patients.
“These are emotional diseases,” Scangos said. Noting that everyone in the audience probably knew someone impacted directly or indirectly from a serious medical condition, he singled out spinal muscular atrophy as a particularly horrific disease because it impacts infants at three or four months, and usually kills them before they are 18 months old. It is also the most common genetic cause of death for babies, he said.
At times, the impact of defeating a rare disease can be put in viscerally individual terms.
“The people in this room saved my daughter’s life,” Martine Rothblatt told attendees at ACRP’s 2016 Meeting and Expo in Atlanta, Ga. last month. At age five, her daughter was diagnosed with what was later called pulmonary arterial hypertension, an incurable lung disease. By 12, the condition had become debilitating for her daughter. Rothblatt, an early pioneer of satellite radio, was frustrated by the expensive and very limited medication options available at the time. She founded United Technolgies to help find better treatments. The effort succeeded. Today, her daughter is healthy woman in her mid-30s who has an active leadership role at United.
Clinical research played a key role in that happy ending, Rothblatt said. “Thank you,” she told her ACRP audience.