Improved Guidelines for Patient Advocacy Groups Supporting Rare Diseases and Working with Pharmaceutical Companies

A study appeared recently in the Orphanet Journal of Rare Diseases reporting that rare diseases affect 350 million people worldwide.  The definition of rare disease differs between the United States (affecting under 200,000 people) versus the United Kingdom (affecting under 50,000 people).

The Orphan Drug Act provides incentives for the research and development of therapies for rare diseases. However, only five percent of the seven thousand currently identified rare disorders are treatable with drugs that have been approved by the U.S. FDA (Food and Drug Administration).

The Challenges

Although we have recently seen an overall surge in new FDA approved drugs, there are still a tremendous number of challenges facing biopharmaceutical companies. Some of these challenges can be met by collaboration between patient advocacy organizations and industry. These organizations are known to have a beneficial effect on clinical trials, regulations, and research and development.

The good news is that the number of advocacy organizations related to a specific disease is increasing. These organizations represent one-half of all rare diseases currently identified.

As for medical and scientific challenges confronting rare diseases, they are numerous. For example:

  • Many barriers to the development of treatments
  • Scientific questions yet unanswered
  • Insufficient data to identify causes of the disease
  • Minimal data on pathophysiology (the study of changes to disease)
  • Lack of biomarker definition measuring disease activity
  • Difficulty in identifying endpoints in clinical trials

Then there are the technical challenges. Compared to common diseases, there is really very limited funding for rare diseases.  Additionally, drug developers find it difficult to initiate trials due to a limited number of eligible volunteers.

And finally, there are not many academic centers experienced in either the development or clinical research of rare diseases. These factors add time and cost to the implementation and management of clinical trials.

In each one of these issues, patient advocacy associations are prepared to be the liaison between providers and patients.

Solving the Challenges

In order to overcome many of the challenges, the solution can be found in a consortium of clinicians, biopharmaceutical companies, patient advocates, regulators, patients, and academic researchers.

This, however, may be an oversimplification, as there are many legal and ethical considerations. The rare disease “ecosystem” can be extremely complex and is forever-evolving.

The Independent Expert Panel (2017)

Members of the newly-formed Panel were chosen because of their combined experience in working with patient advocacy organizations and biopharmaceutical companies.

The new members were charged with the creation of a consensus for guidelines pertaining to the daily interaction between advocacy organizations and biopharmaceutical companies.

The final version of the “Guidelines for Interactions Between Patient Advocacy Organizations and Biopharmaceutical Companies” was finalized in October 2017.

The recommendations call for the optimum standards for interaction between patient advocacies and industry. This will create the most positive effect on the development of novel treatments.

One of the notable changes to the guidelines was to broaden the newly revised information so that it applies to all patient advocacy organizations.

Free access to the Guidelines is available to the advocacy organizations. This will clarify and simplify decisions on interaction with the industry. The guide has the potential to be revised and updated.

From Grassroots to Professional Advocacy Organizations

Initially, patient advocate organizations began with fundraising events held by a patient’s family. Today, many patient advocacy organizations are professional and devoted to finding effective therapeutics and have a major impact on academic research.

Do you or anyone you know belong to a patient advocacy group?



Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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