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

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.

Peter L. Saltonstall

Peter L. Saltonstall, President and CEO, NORD

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  Originally enacted in 1992, it must be reauthorized every five years.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.

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

  1. Charlene York says:

    Congratulations! NORD’s hard work has paid off.

  2. Soula Dortch says:

    As a scleroderma patient, this is very promising news for me. Also my late husband had lupus and I have daughters and grandchildren.


  4. Jerry Smith says:

    I was diagnosed with I.P.F. in 2004 and given estimated 6 mos. to 2 years. I was cured of a fungus that caused it in June 2008 in Germany.I have a website with full disclosure and I had a lung biopsy that was confirmed by the Mayo’s clinic in Phoenix, AZ. Today I am healthy, live a fairly normal life with a lung capacity of appx. 57% per my PFT’s. I am very active making speeches, doing radio and TV. I would be happy to furnish medical records.

  5. My dad was diagnosed 1 month ago told 4 yrs he can live 1.5yrs-2 years do everything he can. Like looking at your watch a timescale on your watch all the time. To see your father that has been so for never in a hospital worked on oil rigs for 30 years?(he’s now still a young 62 year old who has always looked after himself) almost at retirement. Does not deserve this.. Something needs to be done an illness/ disease that has been ignored ( cancer! Which I’ve had at 32 everything is always commercialised publisIsed all the time where ther are other diseases need to be far more attentinoed and focused on like this horrible disease that I have never heard of till now!!! I am from Scotland and I seek for the best help there is possible PLEASE!!! Xxx

    • Jacqueline,
      Another gentle men stated in his statement how the Phoenix AZ Mayo clinic helped him out of his life threatening disease. He has fully recovered with no signs of the disease in his system.
      The Phoenix Mayo Clinic has the best cancer doctors in the world and is at the top of the list when it comes to treating rare diseases.
      I’m a medical coder and there statistics are amazing. Please reach out to them and get to the “Valley of the Sun” they more than anyone else can save your life. There has been so many cases were a patient was told that they were going to died withing a year and went to the Phoenix Mayo clinic and were treated successfully with no remissions.
      Good Luck Jacqueline and may God be with you.

  6. Kitty Lopez says:

    Thank you to everyone that made this happen. Having familial IPF and knowing that there are no approved drugs is so frightening. I’m so hopeful that the clinical trial that I am in will be successful and now fasttracked so that it can begin to slow down the fibrosis for thousands of us. Coalition for PF and the PF Foundation, keep up the good work. I know how hard you have worked on this.

  7. Pam janson says:

    I have a 5yr old Granddaughter that was diagnosed with Periventricular Heteratopia with the Flna mutation in 2008 .she has Global developmental delay due to this disease and it is severe.her mind set is 12-18 mos.she also has hypertonia and wears braces on her feet .she cant talk either except for the word Mom .she only knows how to finger feed ,she can’t go up steps without assistance,she doesn’t take an interest in toy’s unless they blow air,vibrate or has flashing lights,it is caused by sensory issues.she needs therapeutic devices for her sensory issues and speech, but I can’t afford them and her medicaid wont pay for most.is there any help in this bill to get those things for her to have here at home as she desperately needs them …thank you

  8. Barry Brewer says:

    Maybe, just maybe this will help accelerate the research efforts for Genetic “cures” and not just annuity treatments for orphan and rare diseases. More funding is needed in this area. also much needed fast tracking of those therapeutics that show great promise.
    Zinc finger seem to be the preferred method of genetic manipulation, yet gets litle recognition. Search Pubmed.gov zinc fingers. Sangamo Bioscineces leading HIV clinical trials only one example of the potential for “cures” of multiple monogenic diseases.
    yet efforts remain underfunded by NIH in favor of annuity drug research.

  9. Mary Dunkle says:

    The comments posted on this page testify to the urgent need for more research leading to safe, effective treatments. We invite everyone to visit the NORD website (www.rarediseases.org) for information on how to become involved in advocacy, awareness and educational initiatives on behalf of rare disease patients and their families.

  10. Penny Jaquith says:

    what a wonderful thing to come across when running far behind on mail and other correspondence.

    Thank you President Obama, dedicated staff and members at NORD for these life lines added into law an orphan disease can be adopted for fair care and consideration without that too frequent question posed by the orphaned Oliver…..asking please can I have some more?

  11. Susan Diamond says:

    Congratulations on these victories. I thank you for the patient and careful work that has led to these changes.

  12. Nicky says:

    Those are great news, but a long fight still to come.
    I have a nephew with MELAS and seen this illness taking his strenght out of his little body and my sister wanting to take his place is just painful for all of us.
    Thanks for all you do to seek for the best of our families.
    I want to know if this association has an ongoing research regarding this rare disease for which is no cure right now.

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