Top 5 Rare Disease News of the Week—October 14, 2018

#5 How FDA's Breakthrough Therapy Designation Program Changed the Rare Disease Space

On July 9, 2012, officials signed the Food and Drug Administration Safety and Innovation Act (FDASIA) which had a section within it that established a new designation—the Breakthrough Therapy Designation—which allows for expedited development and review of drugs to treat serious or life-threatening diseases if substantial evidence is provided.

The concept for the designation was first initiated at an annual meeting held by Friends of Cancer Research, an organization that has been instrumental in the development and implementation of policies dedicated to ensuring that safe and effective treatments are available to patients who need them most as quickly as possible.

At the National Organization of Rare Diseases’ Rare Diseases & Orphan Products Breakthrough Summit (NORD Summit), Rare Disease Report^® sat down with Ellen Sigal, PhD, the chair and founder of Friends, to discuss how she and her organization were able to turn an ambitious concept into reality and what this designation did for the rare disease community as a whole.

#4 Addressing Diagnosis Challenges in the Rare Disease Space

Watch the exclusive interview with Ellen Sigal on how the FDA's breakthrough therapy designation program changed the rare disease space. Patients with rare diseases often visit several physicians over the course of many years before they receive diagnoses for their conditions—and that’s if they ever do. Delay in diagnosis continues to be a serious issue of all stakeholders involved in the rare disease space.

In a session presented today, October 15, 2018, at the National Organization for Rare Disorder’s Rare Diseases and Orphan Products Breakthrough Summit (NORD Rare Summit 2018) held this year in Washington, D.C., William A. Gahl, MD, PhD, clinical director of the National Human Genome Research Institute at the National Institutes of Health (NIH), and colleagues discussed the many diagnostic challenges that plague the rare disease community and ways to reduce time to diagnosis in these patients.

Dr. Gahl sat down with Rare Disease Report^® for an exclusive interview in which he discussed the session, the issue at hand, and proposed ways to solve the diagnosis challenge in the space.

#3 Greatest Challenges Faced in Diagnosing Rare Diseases

Watch the exclusive interview with Dr. Gahl on addressing diagnosis challenges in the rare disease space. Since it can take 5 to 7 years for a patient with a rare disease to receive an accurate diagnosis—which can be the gateway to appropriate treatments and access to life-saving clinical trials—a panel at this year’s National Organization of Rare Diseases’ Rare Diseases & Orphan Products Breakthrough Summit (NORD Summit) held in Washington, DC, delved into specific associated challenges and how providers might overcome them.

Ellen Matloff, MS, GCG, genetic counselor and CEO of My Gene Counsel, kicked off the discussion by touching on the misconceptions and confusion surrounding genetic testing since “genetic testing can mean so many different things.” She explained that genetic testing can have a wide range of variants, ranging from newborn screening, to whole genome testing, to 23andMe testing.

She stressed that finding a certified genetic counselor who can help walk a patient through the best diagnostic tests for his or her individual case is of the upmost importance. Genetic counselors can be found through the National Society of Genetic Counselors—as well as other agencies and organizations—and are available via phone.

#2 Patients: The Catalysts Behind Rare Disease Research & Drug Development

Read more about the greatest challenges faced in diagnosing rare diseases. Self-advocacy is more prevalent than ever in health care, but in the rare disease space, it’s necessary. With so many different players involved in drug development—biotech pharma, advocacy programs, patient organizations, and physicians—the developmental process for rare disease therapies is complex.

However, at this year’s National Organization of Rare Diseases’ Rare Diseases & Orphan Products Breakthrough Summit (NORD Summit 2018) held in Washington, DC, a panel of experts consisting of Christina Clark, director of development of the Batten Disease Support and Research Association; Tanisha Carino, executive director of FasterCures; Caroline Kruse, executive director of the Platelet Disorder Support Association; and Steve Aselage, CEO of Retrophin, discussed how research and drug development are being largely driven by rare disease patients themselves.

The session moderator, Christopher P. Austin, MD, director of the National Center for Advancing Translational Sciences at the National Institutes of Health (NIH), led the panel by first comparing rare diseases with different types of cancers, which can also be rare. While cancer is used as a general term is used to descrube the disease, which is then followed by a more specific term to define specific subtype, rare diseases often don’t even have a general term from which they can pivot.

#1 FDA Panel Discusses Role of Patients in Clinical Trials for Rare Diseases

Read more about how patients are the catalysts behind rare disease research and drug development. Clinical trials are pivotal for any disease, as the US Food and Drug Administration (FDA) bases their decision to approve new treatments on the data made available by these trials. With only 5% of the approximate 7,000 rare diseases having approved treatments available, the structure and timeline of clinical trials is of the upmost importance in the rare disease community.

Since this is such an important topic, members from the FDA came together to participate in an informative session at this year’s National Organization of Rare Diseases’ Rare Diseases & Orphan Products Breakthrough Summit (NORD Summit 2018) to discuss the traditional pathway and future outlook of clinical trials in rare diseases.

The panel was comprised of the following FDA members: CAPT Nicole Wolanski, PharmD, acting deputy director of the Office of Orphan Products Development; Dragos Roman, MD, associate director of the Division Gastroenterology and Inborn Errors Products (DGIEP); Tejashri Purohit-Sheth, MD, director of the Division of Clinical Evaluation and Pharmacology/Toxicology; and Ellis Unger, MD, director of the Office of Drug Evaluation-I, Office of New Drugs, Center for Drug Evaluation and Research.

Dr. Roman led the panel by addressing the key criteria considered in clinical trials for rare diseases, which include the “totality of evidence” and “flexibility.” He explained that the totality of evidence depends on perception—to a degree—since different biomarkers and endpoints can have different meanings depending on the disease being studied.

Read more about the FDA panel that discussed the role of patients in clinical trials for rare diseases.