You Can Provide Suggestions for the FDA’s Revision of their Rare Disease Research Guidelines

Time for Revision

Like many things in this world, research for rare diseases such as Spinal Muscular Atrophy (SMA)Multiple Sclerosis, and Duchenne Muscular Dystrophy (DMD) has evolved substantially in recent years. This evolution has indicated a need for reform in the guidelines which govern it. Realizing this, the United States Food and Drug Administration (FDA) has announced that they are updating their drug discovery guidelines for rare diseases. Additionally, they will include new emphasis on natural history studies of such diseases. These guidelines have not been updated since 2015, and since that time, much has changed.

What the document includes

In essence, this document was created to help pharmaceutical companies find the answers to the most frequently encountered dilemmas they face while conducting research. The goal is to help accelerate the speed and efficacy of clinical trials, ultimately providing rare disease patients better options faster.

Some of the included topics are:

  • Determining endpoints for clinical trials
  • Identification and use of biomarkers
  • Natural history of disease
  • Disease pathophysiology
  • Clinical manifestations of disease
  • Non-clinical studies
  • Pharmaceutical quality
  • FDA interactions
  • Evidence of effectiveness
  • Evidence of safety

The draft of proposed revisions for these guidelines was released for public view on January 16, 2019.

You can read the full copy of the draft if you wish, which has been made available here. The FDA is actually accepting public comments on this draft until the middle of March. These comments can be provided online or at a public meeting, details of which should be announced soon. Through these avenues, the FDA hopes to gain more perspectives from patients and their caregivers on the research process. The FDA understands that after all, these are the individuals living with rare conditions on a daily basis and it is therefore these individuals who will be able to provide the most detailed analysis of what amendments would provide them benefit.

Natural history

The natural history of a disease refers to the examination of how a disease progresses over time when it is not treated.

The first time the FDA explicitly awarded funding for natural history research for rare diseases was in 2017. The amount totaled 6.3 million dollars. This in and of itself is an indication to the newly recognized value of natural history research.

Natural history studies are an important addition to the FDA’s rare disease research guidelines because they can-

  • Emphasize the need for biomarkers
  • Measure potential benefits of a treatment
  • Help researchers understand the fundamental pathways of a disease, and ergo help them better analyze the correct therapeutic approach
  • Help identify subtypes of diseases
  • Help researchers better match patients to the correct clinical trial
  • Be beneficial in studies where a control group is unethical
  • Help maximize safety in trials
  • Distinguish between natural history and treatment related adverse events

The purpose of it all

This document could, and honestly should, evolve again. We are constantly learning more, and in order to best serve the rare community, our research guidelines need to reflect this new knowledge.

Additionally, these edits are certainly not the only thing the FDA is doing to advance rare disease research. They’re also working closely with numerous patient advocacy groups, which they state are an essential part of the process. They make it clear that the patient voice is of the utmost importance and working with patient nonprofits has made a world of a difference.

In fact, most of the revisions from the 2015 guidelines were made in response to previous feedback the FDA had received from patients and their families. This feedback in addition to future patient/caregiver comments, and continued research, will help ensure the 2019 document is best suited to accelerate safe and effective rare disease research.

“By continuing to provide clarity and direction to drug developers, we hope to help facilitate the development and approval of more safe and effective treatments for patients with rare diseases.”

You can read more about the revision process of these guidelines here.

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