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# Patient Advocates Help Develop Rare Disease Products
- URL: https://www.fdaweb.com/patient-advocates-help-develop-rare-disease-products/
- Published: 2016-11-15T12:00:00.000Z
- Updated: 2026-09-14T21:47:55.000Z
- Author: David McFarland
- Tags: FDA Policy/General, Drugs, Devices, #legacy-id-D5137342

*\[Analysis by Angi Robinson and Juliet Moritz\*\]* Anyone who works in drug development will tell you this is a business of longshots. More than 90% of the compounds that reach clinical testing fail, and many more never make it that far. Add to those long odds the enormous time and expense involved in creating and testing these treatments and you arrive at where we are today: with only about 400 therapies approved to combat the more than 7,000 known rare diseases.

The dismal statistic traces its roots back more than half a century, to President Kennedy’s 1962 signing of the Drug Efficacy Amendment in response to birth defects caused by the morning sickness drug thalidomide. The amendment, requiring rigorous scientific studies to prove drugs safe and effective, suppressed innovation by spiking the cost of developing new medicines. Rare diseases were said to be “orphaned” as profit-conscious drug makers focused instead on treatments for common ailments.

So it was for a generation, until passage of the Orphan Drug Act of 1983 created wide-ranging incentives to encourage rare disease drug research. Aimed at conditions such as Huntington’s disease, muscular dystrophy, myoclonus, amyotrophic lateral sclerosis, and Tourette syndrome, the act introduced tax incentives, clinical research subsidies, protocol assistance, extended periods of market exclusivity, enhanced patent protection and marketing rights, and other inducements to promote development of new compounds.

Since the act’s passage, FDA has shown unprecedented support in addressing the huge unmet need in rare disease. Through provisions that include financial grants, increased access to regulatory agencies, and fee reductions and waivers, the agency is squarely addressing the needs of the biotech and specialty pharma companies at the forefront of orphan drug development. Similar legislation followed in Europe, Japan, Singapore, Australia, South Korea, and Taiwan, and collectively these efforts are paying off: 39 new orphan drugs won approval in 2015 in the U.S. and Europe, and worldwide sales of orphan drugs are projected to reach almost 15% of the overall prescription market in 2016 versus less than 5% in 2000.

Indeed, from 2014 through 2020, the industry forecasts better than 10% compound annual growth rate for rare disease products. It’s a promising trend to be sure, and a strong and growing community of patient advocates— not content that the vast majority of rare conditions still lack a single approved treatment — is stepping in to help.

**Fighting Duchenne muscular dystrophy**

Patient advocacy groups have been around for a long time in various forms, but their role has largely been limited to promoting awareness, raising money, lobbying, and helping drug companies promote clinical trials. But that has changed dramatically, and one of the greatest illustrations to date took place in 2015\. FDA’s draft guidance on developing drugs for Duchenne muscular dystrophy, issued that year, marked the first time the agency published guidance that was initially composed by patient advocates.

The agency invited Duchenne patients, parents, caregivers, clinicians, academic experts, and industry representatives to develop the initial draft guidance. Advocacy group Parent Project Muscular Dystrophy led the preparation of the document and submitted it to FDA in June 2014, and today it represents the agency’s current thinking on the topic. Never before had an external organization exerted such pronounced influence on U.S. government drug policy.

Now, Parent Project Muscular Dystrophy is not your typical patient advocacy group. It claims more than $6 million in annual revenues and funds research, lobbies in Washington, and performs extensive education outreach. But its significant impact on FDA’s approach to Duchenne is an encouraging signal to advocacy organizations large and small that seek a greater voice in drug development.

Rapid evolution of the advocate’s role began in earnest in the 1980s, centered on the HIV and AIDS epidemic. In 1988, FDA began working with AIDS activists in a more significant way than ever before, and three years later the agency began recruiting patient advocates into its Patient Representative Program, which coordinates recruitment, training, and retention of patient representatives who have direct experience with diseases. Today the program’s members are experienced in more than 300 diseases and conditions, sit on 47 FDA advisory committees and panels, and serve as voting members.

In 2001, the agency began seeking patient input on early development of medicinal products, and the FDA Patient Network debuted in 2012\. Consisting of more than 200 patients, caregivers, patient advocates, and advocacy organizations, the network facilitates patient engagement with agency decision-makers. It also educates people about how new medications and medical devices move from concept to market.

**The biggest catalyst: FDASIA**

But maybe the greatest catalyst for expanding advocate’s role is FDASIA, the FDA Safety and Innovation Act of 2012\. The law specifically requires the agency to find ways to solicit patient views during the development of medical products and to consider patient perspectives in regulatory deliberations. It also authorizes FDA to collect user fees from industry to fund reviews of drugs, medical devices, and biosimilar biological products; promotes innovation to speed access to safe and effective products; and enhances the safety of the drug supply chain.

FDASIA created a five-year Patient-Focused Drug Development program to learn from patients about the impact of disease on their daily lives and convened public meetings focused on specific disease areas. It also set up a public-private working group to gather input from stakeholders and experts to advise FDA on creating a risk-based regulatory framework pertaining to health information technology.

About a year after FDASIA’s creation, FDA formed a working group to address its goals of greater patient participation in medical product development. The group sought public input on the subject, and in January 2016 the agency [issued a report](http://www.fda.gov/downloads/ForPatients/About/UCM486859.pdf?ref=fdaweb.com) summarizing the comments in five major categories:

**·** The need for **systematic patient engagement,** including creation of a central office to advise the FDA commissioner on patient engagement activities. The agency wants drug companies and researchers to more actively listen to patients, recognizing that we “experts” can get very focused on endpoints or measures of progress that may not really be meaningful to the people we’re trying to help.

**·** **Clarification of FDA policies** to promote early interaction between FDA and sponsors, and clearer guidance on interactions between patients and manufacturers to facilitate collaboration in the early stages of R&D.

**·** **Transparency and communication,** including a regular report that summarizes participation in the Patient Representative Program and more transparency in how patient input is evaluated and incorporated into agency decision-making.

**·**  Alternative **clinical investigation processes,** including expanded use of patient-centered and patient-reported outcomes on such measures as physical function and quality of life. Commenters also sought more agency collaboration with patient organizations, aiming to conduct shorter, hypothesis-driven trials that evaluate biomarkers as surrogate endpoints to more quickly develop effective therapeutics.

**·**  More extensive use of **workshops and partnerships** to promote cooperation among patients, industry, clinicians, the scientific community, and FDA.

**Explosion in advocacy growth**

This environment has given rise to an explosion in patient advocacy. Check out the Rare [Diseases Clinical Research Network](https://www.rarediseasesnetwork.org/?ref=fdaweb.com) and you’ll find 22 research consortia that together comprise more than 130 patient advocacy groups. There’s a Dystonia Coalition consisting of 14 organizations, a Consortium of Eosinophilic Gastrointestinal Disease Researchers containing 11 groups, eight organizations making up the Rare Lung Diseases Consortium, and a remarkable 35 organizations that specialize in various aspects of lysosomal storage disease. There’s also a Data Management and Coordinating Center for collection, storage, and analysis of data from researchers who work across the rare disease spectrum. The group has worked with nearly 44,000 patients to date.

We’ve spoken to members of many of these groups and find, in every case, remarkable people who are deeply committed to their causes. They greatly value their relationship with industry and view it as a two-way street: They’re happy to give us data, but want to know how it’s being used and how it benefits the people they represent. As well, they want seats on advisory boards and committees and seek input into trial design and execution.

They’re not the only ones pushing for a bigger advocacy role. Recognizing the potential benefits from this expanding partnership, some organizations that provide trial funding now insist on participation from advocacy groups.

Indeed, the pharma industry is way beyond being able to treat an advocacy strategy as optional. Industry must engage with these groups early and in meaningful ways and make clear just what we want from them — and what we’re willing to give back. These trends are producing highly productive dialogue that is helping to advance the cause of scientific discourse.

\* *Angi Robinson is Executive Director, Pediatrics and Rare Diseases and Juliet Moritz is Executive Director, Rare Disease & General Medicine, at* [*Premier Research*](https://premier-research.com/?ref=fdaweb.com)*, a leading contract research organization (CRO) headquartered in Research Triangle Park, Durham, NC.*