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FDA Safety and Innovation Act: A Step Forward for Patients With Rare Diseases

July 9, 2012
By Peter L. Saltonstall, President and CEO, National Organization for Rare Disorders (NORD)

The Food and Drug Administration Safety and Innovation Act (FDASIA) includes the most groundbreaking measures for rare disease patients and their families since the Orphan Drug Act of 1983.  And, just as the rare disease patient community—with NORD as its unifying voice—played a major role in the Orphan Drug Act, NORD and rare disease patients have taken a leadership role in developing and shaping this new legislation and in securing its enactment in a timely manner.

[caption id="attachment_8455" align="alignright" width="115" caption="Peter L. Saltonstall, President and CEO, NORD"]Peter L. Saltonstall[/caption]

Crafted for the purpose of reauthorizing the Prescription Drug User Fee Act (PDUFA), the FDA Safety and Innovation Act includes far-ranging provisions of critical importance to rare disease patients.  These reflect, in many cases, years of advocacy, education and relationship-building by NORD and its member organizations on behalf of patients.

Of particular importance to NORD and the 30 million Americans with rare diseases it represents are the provisions related to:

  • Accelerated patient access to new medical treatments

  • Resolution of conflict-of-interest provisions introduced in the previous PDUFA reauthorization

  • Accelerated development of “breakthrough therapies” that show early promise

  • Enhanced FDA consultation with rare disease medical experts

  • A rare pediatric disease priority review voucher incentive program and

  • The development of Humanitarian Use Devices (medical devices for small patient populations)

PDUFA, as followers of this website know, provides essential funding for FDA by authorizing the agency to charge user fees to companies seeking to have products reviewed.  Originally enacted in 1992, it must be reauthorized every five years.  The deadline for the fifth reauthorization was September 2012.

Over the past two years, in anticipation of the 2012 reauthorization, NORD has been meeting with senior FDA officials to help them better understand the concerns and needs of patients, and the challenges of orphan product development.

At the same time, we and our advocacy partners have been working very closely with Members of Congress and their staff members, including the Chairs and Ranking Members of the Senate HELP Committee and House Energy & Commerce Committee, where the first Congressional debate related to the PDUFA reauthorization took place.

In past reauthorization cycles, the process was contentious at times, but this year it was bipartisan and collaborative in both the Senate and the House.  We believe that happened, in part, because of the effective groundwork laid by many stakeholders and in particular by the patient community.

The stakes remain high for rare disease patients and patient organizations.  Of the nearly 7,000 diseases considered rare (“rare” is defined as affecting fewer than 200,000 Americans), only about 250 have FDA-approved therapies.  That is a huge challenge for the patient community, and there is a growing sense of urgency to accelerate the development of treatments.

At the same time, rare disease patients don’t want to become second-class citizens with respect to treatments.  They want the same reasonable expectation of safety and efficacy from medical treatments that other patients would have.

A Strong Commitment to Rare Disease Patients by FDA

Some very promising developments for rare disease patients to come out of this process were outlined in a document submitted by FDA Commissioner Margaret Hamburg, MD, to Congress in January 2012 (the PDUFA Authorization Performance Goals and Procedures for Fiscal Years 2013-2017).  In that document, FDA committed to:

  • Increased staffing and expansion of the Rare Disease Program in CDER (the Center for Drug Evaluation and Research) and CBER (the Center for Biologics Evaluation and Research)

  • Increased FDA efforts to assure good communication among product reviewers, industry and patients

  • Modernization and enhancements related to non-traditional clinical trial design for orphan drug development

  • Enhanced staff training for FDA reviewers with regard to orphan product reviews

  • Enhanced interaction between FDA’s Rare Disease Program staff and review teams

In Congress, Several Important Bills Incorporated into FDASIA

In Congress, several bills that initially were introduced separately later were incorporated into the PDUFA reauthorization.  Those of particular importance to rare disease patients and supported by NORD included:


Introduced by Senator Kay Hagan (NC), the Transforming the Regulatory Environment to Accelerate Access to Treatments (TREAT) Act included provisions to expand FDA’s Accelerated Approval pathway; address the conflict-of-interest issue; provide greater clarity, consistency and transparency in the review process; and encourage innovation and adoption of modern scientific tools in regulatory science.  NORD worked closely with Senator Hagan and her staff in developing and promoting this bill.

The FAST Act

Introduced by Representatives Cliff Stearns (Fl-6) and Edolphus “Ed” Towns (NY-10), the Faster Access to Specialized Treatments (FAST) Act was aimed at accelerating the development of treatments for rare diseases while maintaining FDA’s high standards for safety and efficacy.  NORD and other patient advocates provided significant input to Representatives Stearns and Towns.

The Breakthrough Therapies Act

Promoted by the Friends of Cancer Research, the Advancing Breakthrough Therapies for Patients Act addressed the need to provide expedited development and evaluation of potential therapies that show promise early in the research process.


Championed by the Cystic Fibrosis Foundation, the Expanding and Promoting Expertise in Review of Rare Treatments (EXPERRT) Act was designed to expand cooperation between FDA and outside rare disease experts and patient advocates.

The Creating Hope Act

Promoted by Kids v Cancer and the Congressional Childhood Cancer Coalition, this Act would expand a priority review voucher program to incentivize the development of new drugs for rare pediatric diseases, including childhood cancers.

Humanitarian Use Devices

NORD worked closely with Senator Al Franken (MN), Representative Charles Bass (R-NH) and other Members of Congress to bring about much-needed reforms related to Humanitarian Use Devices (HUDS). These are medical devices developed for small patient populations through the FDA Humanitarian Device Exemption Program.  This program encourages the development of medical devices for patient populations of fewer than 4,000 people.  Provisions included in the FDA Safety and Innovation Act related to this will encourage the development of devices for both pediatric and adult patients and also expand the existing pediatric device incentive to adult HUDS.

Rare Disease Patient Voices Were Heard

NORD is very grateful to FDA, industry and Congress for listening to the concerns of rare disease patients articulated over the past two years and being responsive so that this critically important legislation could be enacted quickly.  We thank President Obama for signing the FDA Safety and Innovation Act so that all involved can begin to implement these desperately needed measures.

Most of all, we thank our members, supporters and policy partners for understanding that effective change begins with education, advocacy and relationship-building, and for working with us to make that happen.