Scott Schliebner
Scott Schliebner
VP, Scientific Affairs

It is estimated that 6-8% of the global population has a rare disease. That equates to approximately 350 million people, more than cancer and AIDS patients combined. Of the more than 7,000 known rare diseases, 95% have not one single approved drug treatment.

So where does someone with a rare disease find help? Rare diseases pose unique research challenges. The small number of affected patients often results in limited clinical experience. Rare disease registries (RDRs) are an important tool to improve knowledge and monitor interventions for rare diseases. RDRs capture patient and disease related information that can become the foundation for effective diagnosis and treatment.

The specific objectives of rare disease registries typically cluster into the following categories:

To connect affected patients, families, and clinicians.

To learn the natural history, evolution, risk, and outcomes of specific diseases.

To support research on genetic, molecular, and physiological basis of rare diseases.

To establish a patient base for evaluating drugs, medical devices, and orphan products.

The National Organization for Rare Disorders (NORD) is partnering with disease specific advocacy organizations to launch patient-centered registries to gain a better understanding of rare diseases. The registries will allow patients around the world to share relevant data, connect with researchers, and support research on how variables such as diet, exercise, environmental factors and other factors may affect disease progression.

Although there are numerous challenges for rare disease drug development the most critical is the clinical study process. By law, all drugs must undergo clinical trial testing to demonstrate safety and substantial efficacy before FDA approval. When it comes to clinical trial endpoints all drugs have safety risks but you take a drug for one of three reasons:

  • Improved survival
  • Results in a benefit
  • Decreases chances of developing a condition/disease

What is known as a “primary endpoint” is the outcome by which the effectiveness of treatments in a clinical trial is evaluated and should be a direct measure of one of these three outcomes. Clinically meaningful endpoints measure how a patient feels, functions, or survives.

A “surrogate endpoint” is a laboratory measure or a physical sign that is intended to be used as a substitute for a clinically meaningful endpoint. Surrogate endpoints can be used for drug approval if well validated or in some cases this process can be accelerated for “life-threatening” diseases. This is sometimes the case for rare diseases. The Accelerated Approval (AA) regulations were promulgated by the FDA in 1992 to drive the development of new treatments for serious and life-threatening disorders, primarily motivated at the time by the AIDS crisis.

While the Orphan Drug Act was adopted in 1983 in the US in an effort to encourage drug development for rare diseases, the reality is there are still a limited number of clinical options for many patients. A listing of rare disease trials can be found by visiting the Rare Diseases Clinical Research Network (RDCRN) an initiative of the Office of Rare Diseases Research, NCATS, which is funded through a collaboration between NCATS and the National Institutes of Health. Made up of 21 research groups (consortia) and a Data Management and Coordinating Center, RDCRN is working to improve availability of rare disease information, treatment, clinical studies, and general awareness for both patients and the medical community.

Tips on getting a seat at the drug development table:

Engage

  • With disease-focused patient organizations

Connect

  • With other patients and your community

Collaborate

  • With industry in patient feasibility studies
  • With industry in a patient/parent/caregiver panels
  • In FDA and industry workshops

Communicate

  • Be vocal – share your opinions and experience
  • Share what is important to you
  • Your story is important. You don’t have to be a scientist/physician to contribute

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