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FDA is Working to Bridge Gaps and Meet Needs for Rare Disease Product Development

By: Janet Maynard, M.D., M.H.S., Director, Office of Orphan Drugs Development, and Andrea Furia-Helms, M.P.H., Director, Patient Affairs Staff

Director, Office of Orphan Drugs Development, Janet Maynard, M.D., M.H.S.
Janet Maynard, M.D., M.H.S.

There are approximately 7,000 rare diseases affecting an estimated 30 million people in the United States. Many of these diseases are serious or life-threatening and it is estimated that half affect children. Unfortunately, most rare diseases still do not have approved therapies. Each year, the FDA joins the global observance of Rare Disease Day at the end of February, to raise awareness about known rare diseases, many of which have no treatment. This year’s Rare Disease Day theme is Bridging Health and Social Care in recognition that rare diseases deeply impact patients, caregivers and their families.

Rare Disease Day is an opportunity to look back at the progress we have made and to foster our continued efforts to make further advances. In 2018 we saw a record number of novel drugs and biologics approved for rare diseases. In particular, there were 35 novel drugs and biologics approved in 2018 with orphan drug designation. This is the highest number since the passage of the Orphan Drug Act in 1983. This diverse group of novel products was spread across a wide range of therapeutic areas and touched many unmet clinical needs.

Even with the progress we made last year, developing a treatment for rare diseases can present unique challenges. Last year, the FDA took steps to increase collaboration with stakeholders, including scientists, medical product developers, regulators, policy makers, patients and patient advocacy groups to address these challenges. This year, our goal is to help bridge some of the gaps to advance public health. A key component of our plans will be incorporating additional input directly from patients to address some of the difficulties faced in developing treatments for rare diseases. Today, we are pleased to announce two actions that support our efforts:

  • The FDA will host a public meeting on April 29, 2019: “Patient Perspectives of the Impact of Rare Diseases: Bridging the Commonalities.” This provides the opportunity to hear patients’ and caregivers’ perspectives on how rare diseases impact their daily lives and to assess commonalities that may help the Agency and medical product developers further understand and advance the development of treatments for rare diseases. While the differences between rare diseases are critically important, it is also important to assess commonalities to synergize product development in rare diseases.
  • We will be enhancing our grant review process by providing grant reviewers with patient perspectives gleaned from listening sessions with patients about rare diseases. These enhancements will build on our new priorities in grant review. Specifically, to address the unmet needs for rare diseases, the Office of Orphan Products has made meaningful changes to both our funding focus and review process for the Clinical Trial and Natural History grants programs. We are focusing on studies of rare diseases with unmet needs that use efficient and innovative trial designs, such as adaptive and seamless trial designs, use of modeling and simulations, incorporation of real world data, and basket and umbrella trials studying multiple rare diseases/products. We also ask our applicants to incorporate patient input into their research proposals.
Director of Patient Affairs Staff, Office of Medical Products and Tobacco, Andrea C. Furia-Helms, M.P.H.
Andrea C. Furia-Helms, M.P.H.

The FDA has approved drugs and biologics for more than 750 rare disease indications. In 2018, while there were 35 novel drugs and biologics approved to treat rare diseases, there were more than 90 rare disease indications approved. These approvals included drugs and biologics utilizing programs to facilitate and expedite development and review of medical products to address unmet medical need. Among the many new orphan therapies in 2018, the FDA approved the first drug to treat patients with a rare, inherited form of rickets, and the first orally-administered drug to treat Fabry disease. The FDA also approved a new biologic for patients when reversal of anticoagulation is needed due to life-threatening or uncontrolled bleeding.

In addition to drugs and biologics, there has been progress in the development of medical devices for rare diseases. Since 1990, the FDA has approved 76 medical devices for orphan indications under the Agency’s Humanitarian Device Exemption program. In 2018, the FDA approved 2 devices in the program. One device helps patients with acute perforations of native coronary arteries and coronary bypass graft vessels and the other device received approval to expand its use in patients with nephrotic syndrome associated with focal segmental glomerulosclerosis.

The number of orphan drug designation requests has steadily increased from 2012 through 2016 and has remained greater than 500 annually for the past 3 years. In 2018, the Office of Orphan Products received 507 new requests for designation. Under our Orphan Drug Modernization Pilot Program we completed 100 percent of all new orphan drug designation requests within our 90-day goal. Based on the evaluation of our Pilot feedback we have now incorporated modifications to our new templates, reviewer’s guide and the Modernized Orphan Drug Designation Program and we continue to optimize our tools to ensure efficient and accurate reviews.

Similar to our orphan drug designation program, the Rare Pediatric Disease Priority Review Voucher Program and Humanitarian Use Device Program are also intended to stimulate product development for rare diseases. In 2018, we received 52 new requests for rare pediatric disease designation and 22 new requests for humanitarian use device designation.

In addition, the FDA issued several guidance documents related to rare diseases in the last year. These documents are intended to provide clear information to stakeholders so that they can plan modern, efficient product development programs for effectively treating rare diseases.

Beyond the Diagnosis Art Exhibit

Rare Disease Day 2019 Patient Portraits Exhibit
In early 2019, FDA hosted the Beyond the Diagnosis Art Exhibit which highlighted some of the nearly 7000 known rare diseases by featuring portraits of diverse children with a rare disease. This exhibit encourages us to look beyond the diagnosis to the patient.

These guidance documents include:

A core function of the Office of Orphan Products Development is to administer three extramural grant programs related to rare diseases: The Orphan Products Clinical Trials Grants Program; the Natural History Grants Program; and the Pediatric Device Consortia (PDC) Grants Program. In 2018 the Office of Orphan Products Development provided:

  • More than $15 million to fund approximately 60 ongoing and 12 new clinical trials. Highlights of the newly funded clinical trial grants include evaluation of therapies for rare forms of cancer and rare endocrine disorders. About 40% of the grants fund studies that enroll children and adolescents.
  • Approximately $2 million to fund ongoing natural history studies to inform medical product development by better understanding how specific rare diseases progress over time. We have 6 natural history study grants that are ongoing (2 co-funded with National Center for Advancing Translational Sciences (NCATS) support), including studies in Friedreich Ataxia and Angelman Syndrome.
  • Six million dollars via the Center for Devices and Radiological Health to 5 pediatric device consortia grantees that will provide advice and support services to innovators of medical devices for children. Our recent awards included three for real-world evidence projects. Additionally, we have refined metrics to collect quantitative and qualitative achievements as well as impact narratives on device projects to communicate the advances in pediatric device development to community stakeholders.
  • New ways to communicate with our stakeholders. In collaboration with the Patient Affairs Staff, the FDA produced a video about our grants program as part of the “Patients Matter” series to inform grantees and patients about the grant programs, the need for patient involvement, and the benefits to grantees.

Despite this progress, we recognize that thousands of rare diseases still have no approved treatments and that we need to do more to catalyze product development for rare diseases. Over the upcoming year, we plan to build on programs and changes implemented or announced over the last year. These important programs and resources include:

  • Initiation of a patient portal that will give patients and caregivers a common entry point to the Agency for questions and meeting requests. Co-developed by Patient Affairs Staff and the medical product centers, the patient portal will route inquiries to the appropriate medical product center or office to ensure that they are received and responded to in an effective and efficient manner. As patient populations and their needs evolve and become increasingly complex, we want patients and those who advocate on their behalf to know that our door is open. As a science-based agency, we continue to develop and engage programs that clarify patient values and advance the science of patient input.
  • Continuation of the Rare Disease Listening Sessions Pilot to learn more about the experience of having a rare disease or condition directly from patients, caregivers and advocates. These listening sessions are conducted by Patient Affairs Staff and in partnership with the National Organization for Rare Disorders (NORD). These sessions provide a unique opportunity for the FDA to gain insights into patients’ perspectives on the burdens of disease and its current treatments, as well as its impacts on the patients’ and caregivers’ daily activities and quality of life.
  • Establishment of our first FDA Orphan Products Grants Internal Review Committee comprised of FDA regulatory and rare disease experts. In this approach, FDA experts will evaluate the grant applications alongside external rare disease experts to determine the likelihood for the project to exert a sustained, powerful influence on the research fields involved using revised review criteria specific to the goals of the program.

While there have been many accomplishments in 2018, there is still much more work to be done. The FDA’s work is about helping people and bridging the gaps between stakeholders to advance public health. We are committed to more progress in the future and invite patients and stakeholders to work with us to inform and support product development. As we move forward together, we are energized to incorporate additional input from patients in addressing the challenges of developing treatments for rare diseases.


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