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Rare Disease Therapy Development and Access Remain Top FDA Priorities During COVID-19

laboratory scientist wearing full personal protective gear seated at bench looking into microscope conducting medical research

By: Patrizia Cavazzoni, M.D., Acting Director, Center for Drug Evaluation and Research, and Peter Marks, M.D., Ph.D., Director, Center for Biologics Evaluation and Research 

The FDA’s work on behalf of people with rare diseases is more important than ever as these patients are among the most vulnerable to COVID-19, either directly or indirectly. Many rare disease patients also depend on reliable access to high quality, life-saving medications. While COVID-19 is a major public health priority, the FDA’s work to advance treatments for rare diseases and helping ensure continuity of care for people with rare diseases remain top priorities.

Patrizia Cavazzoni, M.D.
Patrizia Cavazzoni, M.D.

Despite many advances over the years, we know that much more work to help patients with rare diseases is needed. Results of a recent nationwide survey by the National Organization for Rare Diseases (NORD) conducted with patients suffering from rare diseases such as amyotrophic lateral sclerosis (ALS, often called “Lou Gehrig’s disease”), Duchenne muscular dystrophy (DMD), sickle cell disease, a wide range of cancers, and other diseases, showed that 74% of respondents has had a medical appointment cancelled due to COVID-19. Among other unsettling findings, the survey showed that 29%, almost one of every three, has temporarily or permanently lost a job due to COVID-19, with 11% of those job losses resulting in lost health insurance.

FDA staff work every day to do everything they can to prevent the COVID-19 pandemic from impeding progress in finding treatments for rare diseases through support to sponsors and investigators conducting clinical trials, facilitating access to products while they are in development, and working to help ensure continued availability of approved products critical for patients with rare diseases.

As we continue to prioritize development of new therapies for rare diseases, we are also working to minimize COVID-19 impact on the progress we’re making. Below are some examples.

Mitigating the Impact of COVID-19 on Clinical Trials of Products for Rare Diseases is Critical 

Clinical trials of products for rare diseases are usually more challenging to design and execute. For patients with serious conditions, their lives can literally depend on the timely completion of clinical trials and continued development of safe and effective therapies. This is especially true for patients with rare diseases, where there are often no available therapies. Recognizing the threat of COVID-19 to the conduct of clinical trials, the FDA issued guidance designed to help drug companies, investigators, and others assure safety of trial participants and minimize risks to trial integrity. Factors like quarantines, site closures, travel limitations, or interruptions to the supply chain for the investigational product may interfere with completion of a clinical trial or patient participation in clinical trials and therefore the timeliness of when a new therapy could be available for patients in need. Based on regular engagement with stakeholders, we update this guidance as appropriate and use it as a key tool when discussing with sponsors how to proceed with clinical trials in the face of unavoidable deviations created by the ongoing public health emergency.

We have also provided resources for patients regarding the COVID-19 pandemic on the FDA’s webpage and our staff are participating in multiple webinars and virtual conferences with patient advocacy groups to answer questions and help ensure patient voices are heard. On June 8, the FDA joined the Muscular Dystrophy Association for the MDA Advocacy Institute: A COVID-19 Discussion with the FDA webinar.

Accessing Investigational Products, Expanded Access and Right to Try

The FDA’s Expanded Access program is an important tool for patients with rare diseases, certain malignancies, COVID-19 infections, and other serious or immediately life-threatening diseases or conditions, to access investigational products outside of clinical trials when no comparable or satisfactory alternative therapy options are available. We recognize that in many cases expanded access is the only way a patient with a rare disease can gain access to an investigational therapy outside of a clinical trial. And, if a clinical trial ends, so too can  access to these investigational therapies.

CBER Director, Peter Marks, M.D., Ph.D.
Peter Marks, M.D., Ph.D.

The FDA is more focused than ever on helping patients and health care professionals evaluate options for accessing investigational products, such as by participating in a clinical trial or obtaining access to an unapproved, investigational product outside of a clinical trial through expanded access (compassionate use). In addition, in the case of ALS and certain other diseases, we have encouraged drug companies to offer access to investigational products after clinical trials are completed when continued access to a promising medicine would be appropriate under the expanded access program. However, it’s important to note that the FDA can’t make a company provide a product under expanded access, so in order for a patient to receive a treatment under this mechanism, the manufacturer or sponsor must be willing to provide it. While the FDA reviews clinical trials and authorizes expanded access, it does not review or approve requests for use of investigational products under the Right to Try Act. The manufacturer is in the best position to provide information about whether the product meets the criteria to be eligible for use under Right to Try

Potential Impact of COVID-19 on Continued Supply of Therapies for Patients with Rare Diseases

The FDA has worked proactively with manufacturers, including those for rare disease therapies, to evaluate their entire supply chain, including active pharmaceutical ingredients, finished dose forms, and other components that may be impacted in any area of the supply chain due to the COVID-19 outbreak. For example, FDA staff have been in close contact with manufacturers of products like intravenous immune globulin to help ensure continued supply of this critical product for patients with primary immunodeficiency disease. Given the increase in demand for hydroxychloroquine as a potential treatment for COVID-19, we also quickly established priority review for all generic hydroxychloroquine drug applications and expedited their review and approval to help mitigate shortages for the FDA-approved use to treat the rare disease lupus.

Incorporating the Patient’s Perspective, Building Clinical Trial Readiness

Each rare disease may have its own special challenges related to COVID-19. For instance, people living with ALS often have a harder time with breathing and lung function and are therefore at higher risk of severe complications. ALS is a striking example of the importance of finding effective therapies for rare diseases. Despite some advances in treatments that can help prolong life, there is still no cure for this always-fatal neurodegenerative disease. However, there are a number of clinical trials underway that we hope will generate more therapeutic options for patients suffering from ALS.

We recently announced a Request for Information and Comment on Rare Disease Clinical Trial Networks. This is a valuable opportunity for the FDA to gain public input on practical steps and successful approaches relating to the start-up, implementation and sustainment of global clinical trials networks, including specific considerations for establishing such networks for a range of rare diseases. It’s part of our continued work toward building the Rare Disease Cures Accelerator, a cooperative scientific initiative for the development of common, standardized platforms that can improve the characterization of rare diseases, incorporate the patient’s perspective in clinical outcome assessment measures, and build clinical trial readiness in the pre-market space. 

As the COVID-19 public health emergency continues, and the FDA works to facilitate the development of products to help control this disease, we remain steadfast in our commitment to all patients. We are focused on facilitating development and approval of products for serious conditions where there is tremendous unmet need, including ALS, DMD, sickle cell disease, and many others, and continue to vigorously advance these development programs.


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