Why are rare diseases so difficult to study? Is it just their rarity? Or is it also industry challenges?  Unfortunately, industry has a lot to do with it.

Clinical Trial Challenges

There is a gold standard for clinical trials across the healthcare industry. These are large investigations, which are randomized, have clearly defined endpoints, and are placebo-controlled. Unfortunately, for rare diseases, these standards aren’t always easy to achieve. Sometimes they’re not even feasible.

Randomization

Firstly, due to small patient populations, it is often not possible to have a large enough clinical trial within which to conduct randomization.

Rare diseases have small patient populations as a whole and there are also a wide array of disease sub-types which warrant their own analysis. Of course, we can’t just look at the number of patients in the world when we are looking to complete a trial. Not all patients may be eligible or may desire to participate in a trial, even if they have the correct diagnosis. If trial sponsors aren’t able to recruit the patients they need, they will not be able to conduct a large randomized trial.

Endpoints

Another difficulty is establishing appropriate endpoints. As most rare disease researchers have difficulty initiating trials, they do not have a long trial history from which to establish endpoints. It’s a vicious continuing cycle.

Placebos

A fundamental component to clinical trials is placebo groups. However, when a therapy is being investigated for a fatal pediatric rare disease, it can seem unethical to knowingly put some patients in a group with no treatment. For this reason, natural history is often used to compare results, as opposed to a typical placebo group. Of course, this presents its own challenges.

Reimbursement

A huge issue in rare disease is that regulators and trial reimbursement agencies want to see these “gold standards” before they fund the trial.

This means that some of the most innovative research in rare disease struggles to receive funding, therefore lengthening the time that patients have to wait to receive the life-changing therapies they need (for instance, curative gene therapies).

As for the regulators and investors, there is a clear challenge of weighing safety, efficacy, and practicality when funding trials. But if we want to improve the lives of rare disease patients, sometimes we have to make the hard choice and do the best we can.

Read the source article at Health News and Information.