Up at 5AM: The 5AM Solutions Blog

Clinical Trials: Finding Goldilocks to Cure Rare Diseases

Posted on Tue, Dec 09, 2014 @ 03:00 PM

One of the challenges in drug development is enrolling participants in clinical trials that meet very specific duchenneMDcriteria. The reason for this is sound: make the trial too broad and researchers risk missing meaningful data about a potential therapy's efficacy.

However, there is a tension between mitigating that risk and the need to reach as many people with horribly debilitating -- and often life-threatening -- illnesses as possible with a life-altering miracle.  Often multiple trials have to be conducted that test lots of different scenarios, and each one needs participants whose conditions, like the porridge and the bed in the fairy tale, are "just right."

While the tension exists in finding cures for everything from breast cancer to Ebola, the stress is particularly acute in the quest to treat rare diseases. High levels of patient engagement and advocacy from organizations and foundations that support research for cures has the potential to change the clinical trial and drug approval processes that often feel like obstacles to patients and their families. 

Stuart Peltz the CEO of PTC, a pharmaceutical company that is developing a treatment for a rare, genetic form of muscular dystrophy sums up drug developers' dilemma this way: 

“Regulators like you to pre-specify the outcome, say, ‘Here’s the bet: we put our chips on Five’... [h]owever, in a brand new disease where trials have never been done before, how do you know what number to put [your bet] on?” 

Mosaic has an interesting article that looks at patients battling Duchenne muscular dystrophy (DMD), a rare, genetic disease that mostly affects boys, and which is caused by a genetic mutation. Boys with the disease have inherited a glitchy X chromosome in the DMD gene that fails to make enough of the protein dystrophin which holds muscle fibers together. 

The article is a long one for reading on screen, but worth well worth the time. We've covered patient-centered drug development and advocacy in past posts here and here. 5AM Solutions has worked with Pfizer to empower patients by putting cinical trial results in patients hands. You can read about that here

 Image Credit: The Duchenne Alliance

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Tags: clinical trials, rare diseases, drug development


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