CBI Scene Blog

5 Initiatives to Advance Research into Rare Disease Therapies

Posted by Linda K on Aug 28, 2014 11:45:00 AM


Rare diseases have traditionally received far less attention from legislators, researchers and pharmaceutical companies than more prevalent health issues. Rare diseases have often been overlooked because of a myraid of reasons including: lack of research on the disease state, difficulty in finding and retaining patients to participate in clinical trials, getting coverage approvals from payers, spreading market awareness about the disroder, and the financial return of such therapies.

According to NORD,  there are currently 7,000 known diseases with only 500 approved treatments. For patients living with rare diseases, the outlook is one of critical need. Here are five contemporary initiatives for enacting legislation and advancing research of rare disease therapies and treatments:

#1 The Rare Diseases Congressional Caucus

Established in 2010 with the goal of providing a congressional forum to ensure that there is an assembly that focuses on improving the lives of individuals with rare diseases. RDLA is a lobbying organization encouraging members of Congress to join the rare disease caucus without promoting any specific policy. It’s simply an organization of individuals and organizations who want to be legislative advocates. All members of the rare disease community with a desire to share ideas and advocate for introduction or enactment of legislation for rare diseases are invited.

#2 The National Organization for Rare Disease (NORD)

Focusing on getting humanitarian devices developed and distributed to support the small rare disease patient population. NORD has made the following recommendations:

    • Ensure adequate and consistent NIH funding – currently critical rare disease research is enormously underfunded.

    • Motivate new researchers in the Rare Disease Research Field by offering incentives.

    • Create a National Plan for Rare Diseases. It should include specific requirements related to rare disease research and product development. Congress should commission a study of the benefits of rare disease research on the economy and healthcare system.

    • Ensure legislation improving patient’s involvement. NORD wants patients to be equal partners with the FDA, with their input incorporated into the drug review process.

    • The FDA should provide consistent and sufficient funding.

    • Ensure health care reimbursement for non-conventional rare disease therapies. Patients with rare diseases face numerous reimbursement problems. There’s a lack of coverage of orphan therapies under both Medicare and Medicaid programs. Non-Conventional therapies include medical foods for Inborn Errors of Metabolism and other rare diseases; medical device and bio-engineered treatments. Government at all levels and private health insurance plans sometimes ignore the importance of these therapies, though they’re critical to the survival of many rare disease patients.

#3 Patient-Centered Outcomes Research Institute (PCORI)

The Patient-Centered Outcomes Research Institute is a healthcare reform initiative. PCORI will use forums and public comment to engage patients and increase awareness of its work. Within PCORI there is a special committee on rare diseases that will work closely with NORD to aide design of a research study around rare diseases and insure maximum input and benefit for individuals with rare diseases. 

#4 University and Pharmaceutical Company Partnerships  

Partnerships with Life Sciences organizations and the Academic community support initiatives to get innovative rare disease treatments on the market. The Global Medical Excellence Cluster (GMEC) has formed a partnership with Pfizer on joint drug discovery programs having a rare diseases focus. Partnering scientific and clinical expertise from universities with Pfizer’s pharmaceutical development skills can potentially expedite the process of introducing new medicines to market for treatment of rare diseases. 

#5 Collaborative Data Sites

PhenomeCentral and SickKids help clinicians and scientists worldwide share information and data related to rare diseases as it is being researched. This facilitates collaboration with others who are focusing on rare disease research and rare disease therapies. Rare Diseases Clinical Research Network has a cooperative research program facilitating collaborative clinical research in rare diseases, and the training of clinical investigators in rare diseases research and pilot projects. Data access is available to just about everyone including patients, the public, researchers, academics, practicing physicians and healthcare professionals.

For more information on what the rare disease community is doing to advance therapeutic research, join us at NORD's 2014 Rare Diseases & Orphan Products Breakthrough Summit taking place October 21-22, 2014 in Alexandria, VA. To learn more about this event, click on the button below!

NORD 2014  


Topics: Patient Access, Clinical