At the heart of rare disease treatments is research. Currently, 95% of all rare diseases still have no approved therapies. Although there has been an increased focus on rare diseases among pharmaceutical companies in recent years, we are still far from where we need to be.

Rare diseases account for approximately 31% of the research pipeline. This is up from a mere 18% back in 2010.  Over 600 medications/products have been approved for rare conditions so far. However, considering the fact that there are over 7,000 rare diseases, this number is minuscule. That said, the amount of clinical trials for rare conditions is increasing. In just the last 5 years, 4,000 clinical trials were initiated for rare conditions across the world.

Despite progress, we have an ethical responsibility to fight harder.

Patient Contribution to Research

It didn’t take long for patients to understand that they had something valuable to contribute to research. The establishment of patient registries by advocacy organizations such as Cure SMA and the Cystic Fibrosis Foundation has aided in the understanding of many rare diseases. By developing a repository for natural history data, researchers can better comprehend the various manifestations of a single disease, its causes, how it progresses, and what type of clinical trial may best benefit the patient community.

In addition, these registries help to raise awareness of rare diseases among the scientific community. As each rare disease individually only selects a small percentage of the population,  advocacy has become a necessity for the rare community. When this advocacy is joined among diseases, the effect is even greater. The fight is driven by necessity.

Parent Advocates

Lydia was diagnosed with epileptic encephalopathy, which is a result of a single mutation in the KCNQ2 gene. Learning there were no treatments available for their daughter, her parents took their child’s healthcare into their own hands.

They knew Lydia needed a personalized treatment, something that costs an exorbitant amount of money. They created a fund to help develop this therapy. However, they didn’t stop at finding a therapy for their daughter. They then made the set of processes available to other developers so that the development of treatments for other ultra-rare conditions would be easier. Although each disease is different, there may be components of one therapy that can be utilized for another. This in and of itself could reduce both time and cost of development.

A rare diagnosis forces families to become advocates and get creative with their methodology.

But perhaps the worst part is that these families are forced to become advocates despite the fact that pharmaceutical companies have all of the knowledge and resources to make an impact on rare conditions without a fight. We are not fighting for the development of resources, we are fighting for the utilization of the resources which already exist.

 “We can do better for all patients. No one should be left behind based on the rarity of their disease.”

A Simple Solution

Imagine the impact that could be made if each and every pharmaceutical company and biotech agency conducted one research program for a singular rare disease pro-bono.

To fill the need, it is not necessary for every agency to research every rare disease. We simply need every organization to dedicate some of their time, money, and resources to the rare disease space. The returns for these organizations may not be economic, but they will be invaluable to patients, their caregivers, their families, and society as a whole.

You can read more about this perspective on rare disease research here.