Rare Disease Congressional Caucus Briefing: Urgent Healthcare Policy Needs of the Rare Disease Community

Rare Disease Legislative Advocates & the National MPS Society in coordination with Rare Disease Congressional Caucus Co-Chairs:
Representatives Leonard Lance (R-NJ) and Joe Crowley (D-NY), held a briefing,

Urgent Healthcare Policy Needs of the Rare Disease Community

Thursday, February 26th, 2015

Russell Caucus Room

Lunch Provided by event sponsors AbbVie, Alexion, Raptor, & Shire
Moderator:  Anthony J. Castaldo, President, US Hereditary Angiodema Association (HAEA)
  • Limited Access to Specialists in Private Insurance Networks, Stephanie Bozarth, National MPS Society
  • Coverage Gaps for Medically Necessary Foods, Nicole Dreyer-Gavin, PKU Parent Advocate
  • Medicare Coverage Challenges for Cystinosis Patients, Kristina Broadbelt, Patient Advocate
  • Step-wise Therapies: Negative Implications for the Health of Rare Disease Patients, Anthony J. Castaldo, President, US Heriditary Angiodema Association


Briefing Hosted by:


Action Needed: Draft Guidance on Disclosing Reasonably Foreseeable Risks in Research Evaluating Standards of Care

Rare Disease Patients and their families will be dramatically impacted by the Draft Guidance on Disclosing Reasonably Foreseeable Risks in Research Evaluating Standards of Care recently released for comment by the Office of Human Research Protections. We are writing to ask that you allow us additional time in which to offer comments in response to this draft guidance you announced on October 24, 2014.


To be included in this request, please send your name, organization, and city/state to Kyle McEvilly (kmcevilly@geneticalliance.org) by 5 PM on November 17, 2014. Please also indicate whether you are signing on as an organization or individual. You may also sign on online. If you have any questions please contact (sterry@geneticalliance.org).

Rare Disease Congressional Caucus Briefing


Rare Disease Legislative Advocates in coordination with Rare Disease Congressional Caucus Co-Chairs

Representatives Leonard Lance (R-NJ) and Joe Crowley (D-NY), will host a briefing on

Implementation of the Rare Disease Provisions in the
Food & Drug Administration Safety and Innovation Act of 2012 (FDASIA) PL 112-144

Wednesday, September 17, 2014

12:00 noon – 1:30 pm

Rayburn House Office Building, Room: B-318

Lunch Provided by event sponsors Amicus & Shire


  • Sec. 901. Enhancement of accelerated patient access to new medical treatments: Accelerated Approval for rare diseases, Emil Kakkis, MD PhD, EveryLife Foundation for Rare Diseases
  • Sec. 902. Breakthrough therapies, TBD, Novartis Therapeutics
  • Sec. 903. Consultation with external experts on rare diseases, Stephanie Krenrich, Cystic Fibrosis Foundation
  • Sec. 908. Rare pediatric disease priority review voucher incentive program, Nancy Goodman, Kids v Cancer
  • Sec. 1137. Patient Participation in Medical Product Discussions, Allison Greenstein, Narcolepsy Patient Advocate
  • FDA’s Strategic Plan for Accelerating the Development of Therapies for Pediatric Rare Diseases – TBD, FDA
  • Emerging Biotech Perspective of the combined impact of FDASIA, TBD, Amicus Therapeutics

Limited Seating, RSVP to attend: To register click here.

Briefing Hosted by:

Sept. Caucus briefing logo mashup

New Op-Ed With Details on 21st Century Cures Initiative

by Rep. Fred Upton,U.S. Congressman representing Michigan’s 6th District &  Rep. Diana DeGette, Chief Deputy Whip

Originally published by The Huffington Post on May 6th:  Talk to any American adolescent and it quickly becomes clear that keeping pace with 21st century technology is a constant challenge. But staying on top of today’s technology goes far beyond trending hashtags and Instagram likes; it presents a unique opportunity to bring researchers, innovators, caregivers, and patients together in a new way that advances our collective understanding of disease and how we combat it.

Read more

Senator Al Franken & Minnesota Governor Mark Dayton Team Up to Urge NIH to Re-institute Connective Tissue Study

Late last year, the National Institute on Aging, which is part of NIH, halted a long-running observational study of fibromuscular dysplasia and four other rare diseases, saying it was no longer collecting data or enrolling patients, and that the study’s goals had been met. Those affected by this decision argued that fibromuscular dysplasia’s cause or cure still isn’t known, and mobilized in an effort to get a clearer understanding of why the study had been ended. One of the affected participants, Kari Ulrich, set up an online petition asking the NIH to fully address the closure of the study.  This petition quickly gained popularity, and when printed out was a phonebook-size document containing names and comments of about 11,000 people. Their efforts were even documented in an article in The Wall St. Journal. Read more

Senator Elizabeth Warren calls for more FDA & NIH funding

EWarren massbio

During a speech at the Massachusetts Biotechnology Council, Senator Elizabeth Warren has called for more National Institute of Health funding. Warren also said the FDA should be given the funding resources to hire more qualified scientists to work with their industry counterparts in the drug approval process.

Click here to read the full story

Wall Street Journal Features an Article on the Importance of Rare Disease Research

The March 21st edition of the Wall Street Journal features an article by noted health journalist Amy Marcus titled “Hard Choices in Pursuit of Rare-Disease Cures: Patients Urge More Data Gathering as Tighter Federal Budget Crimps Research” which details the importance of rare disease research and the struggles many groups face as budget cuts hamper their pursuit of a cure.

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SSA Compassionate Allowances for Rare Diseases

Social Security has an obligation to provide benefits quickly to applicants whose medical conditions are so serious that their conditions obviously meet disability standards.

Compassionate Allowances (CAL) are a way of quickly identifying diseases and other medical conditions that invariably qualify under the Listing of Impairments based on minimal objective medical information. Compassionate Allowances allow Social Security to target the most obviously disabled individuals for allowances based on objective medical information that we can obtain quickly. Compassionate Allowances is not a separate program from the Social Security Disability Insurance or Supplemental Security Income programs.

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The Undiagnosed Diseases Program at the National Institutes of Health

Some patients wait years for a definitive diagnosis. Using a unique combination of scientific and medical expertise and resources at the National Institutes of Health (NIH), the Undiagnosed Diseases Program pursues two goals:

  • To provide answers to patients with mysterious conditions that have long eluded diagnosis
  • To advance medical knowledge about rare and common diseases

Read more

NIH: Therapeutics for Rare and Neglected Diseases (TRND)

The (TRND) program in the NCATS Division of Pre-Clinical Innovation aims to encourage and speed the development of new drugs for rare and neglected diseases. TRND stimulates drug discovery and development research collaborations among NIH and academic scientists, nonprofit organizations, and pharmaceutical and biotechnology companies working on rare and neglected illnesses.

Read more