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Why the 21st Century Cures Act Offers Hope for Rare Disease Patients

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The U.S. House Energy and Commerce Committee’s 21st Century Cures initiative is a bipartisan effort to help speed the development and delivery of new health care treatments and cures in America.

There is much to be excited about! Along with a welcome increase in funding for the National Institutes of Health (NIH) and the Food and Drug Administration (FDA), the bill primarily focuses on efforts to increase strategic investments in medical research and change some aspects of how the FDA executes its regulatory oversight mission with regard to the review and approval of new drugs, biologics, and medical devices.

The 21st Century Cures Act may just be the answer to the 7,000 or more rare or ‘orphan’ diseases out there that represent a significant public health challenge. Needless to say, as a parent of two boys with Jansen’s metaphyseal chondrodysplasia, an “ultra” rare disease that affects roughly 22 people worldwide, I have been keenly tracking the progress of the bill as it moves through congress.

While the Orphan Drug Act of 1983 was successful in helping spur development of drugs for rare diseases, leading to 360 approved treatments for 200 conditions, there is still work to do, as there are roughly 6,800 rare diseases with no approved treatments.

Due to the low prevalence of individual rare diseases, the development of treatment tends to become tricky. Questions of economic viability and small patient populations affect research and development of new drugs. The small number of patients also reduces the quality of epidemiological evidence, so long-term projections on the safety and efficacy of these drugs is less reliable.

Rare disease challenges

Currently, legislation demands that potential therapies demonstrate safety and efficacy in the clinic in order to be approved by regulatory authorities. While these expectations are appropriate and realistic for the majority of common diseases, for drugs being investigated for the treatment of rare diseases, these requirements are either very challenging or implausible for technical, practical or ethical reasons.

Another challenge is relatively little is known about the pathophysiology or
the natural history of many rare diseases. There are usually only a small number of experienced clinical investigators worldwide, and usually very little scientific literature published. We were fortunate enough to find a researcher in Boston willing to work on a potential cure for Jansen’s  – a genetic mutation of a gene that encodes for a specific protein (PTH/PTHrP receptor).

Equally problematic is the small number of patients available for clinical studies. Enrollment of patients into clinical studies in sufficient numbers to generate meaningful comparative data is therefore a major challenge, usually requiring the participation of many sites across multiple geographies, frequently with very few patients enrolled at each site. This of course leads to more delays, more costs, and further uncertainty.

Why the 21st Century Cures Act is so important

The 21st Century Cures Act “accelerates the discovery, development, and delivery of life-saving and life improving therapies.” It transforms the quest for faster cures by not only removing barriers to collaborative research, which would allow data to be accessed in an easier manner, but also more importantly, incorporate the patent perspective into drug development and regulatory processes. As the single-most powerful advocate for our child, we – the parents – could now contribute personal experiences to modify and improve treatments.

The Cures Act would take into account the unique characteristics of rare diseases by utilizing drug development tools such as biomarkers (a characteristic that can be objectively measured and evaluated as an indicator of normal biological processes or pharmacological responses to a therapeutic intervention) to help with early assessment of a particular course of treatment.

Modernizing clinical trials is another exciting feature of the proposed bill. The legislation encourages new and creative adaptive trial designs and aims to utilize the most modern statistical and data tools, while keeping unnecessary paperwork at the minimum.


These are exciting times for medical innovation and advancement, and the 21st Century Cures Act promises much hope to those with rare diseases. However, not everyone is on board. The bill allows anecdotal and easily manipulated sources of health data to be used to approve new drugs. Utilizing a patient’s experience from clinical experience could sometimes be all it takes for a new drug to reach the market. The use of biomarkers, animal studies and inconclusive preliminary data to support approval, rather than proven health benefits, has unsettled many quarters of the health industry. Having the FDA “rely” on observational analyses, which are less rigorous than randomized controlled trials (RCTs), for approval of medical devices could compromise ethical safety standards.

The need for safer, cheaper, more effective, and faster treatment options for rare diseases is abundantly clear. Lack of new drugs highlights strategic failures in our system to encourage Research & Development to focus on neglected diseases—not merely failures in our regulatory system. The worry with the proposed bill is that new laws for the FDA may not necessarily accentuate cures, but rather tie them down in more bureaucracy and unsafe practices. More incentives and penalties for longer review times of potential drugs and devices could be a better way to speed up finding cures.

The FDA already has strategies in place to safeguard the patient when developing new drugs. The Office of Orphan Products Development (OOPD) within the FDA assists potential sponsors of orphan products by directing the programs like:

Orphan Drug Designation Program – qualifies a product for special
financial incentives.

Orphan Products Grant Program – provides funding for clinical

Pediatric Device Consortia (PDC) Grant Program – facilitates pediatric medical device development.

Humanitarian Use Device (HUD) Program – motivates businesses to develop medical devices for rare diseases and conditions.

Hopefully, with all the discussion generated by the 21st Century Cures Act, the FDA can dig deep, really look at where it is going wrong and transform itself into a more flexible and creative institution to introduce new ways to speed up lifesaving treatments for patients with rare diseases.

While the House overwhelmingly passed the 21st Century Cures Act, the Senate is yet to take up the bill. My hope is that in all the rhetoric that passes between the naysayers and the advocates, there is transparency on how to close the gap between the discovery and delivery of innovative treatments and products. While changes are appropriate and important, nothing should compromise patient safety.

Originally published: August 17, 2016
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