As a writer for Patient Worthy, I often focus on successful clinical trials and recent FDA approvals for drugs. Quite frankly, I think that this focus has blinded me to the true extent of how arduous and lengthy the approval process is for every drug.
Now that my eyes have been opened to this reality, it truly makes every recent approval seem that much more momentous.
Life According to Sam shed light on a particularly momentous clinical drug trial process with regards to progeria, one of the rarest diseases in the world.
The documentary followed Dr. Leslie Gordon as she spearheaded this process for a drug called lonafarnib for her son Sam, after he was diagnosed with progeria at the age of two.
At the time that Sam was diagnosed, there were no known treatments, much less a cure, for progeria, which affects only about 250 children worldwide. Progeria causes rapid premature aging in its patients, carrying a very dismal prognosis, as most children with the disease pass away around the age of 13-14.
But Dr. Gordon was not going to take no for an answer, so she began racing against the clock to save her son.
The first thing she focused on was setting up a foundation for progeria to raise money for research into the disease. Within a year, she was able to raise over 1 million dollars. With this funding, Dr. Gordon and her new team set out to determine the cause of progeria, and after genetic testing and numerous imaging scans, Dr. Gordon was able to narrow down the specific genetic mutation that caused the abnormal protein formation in progeria.
This was the vital first step in her process, because once the root cause of progeria was identified, a treatment could be crafted to target this cause.
Luckily, there was already a drug on the market (lonafarnib) that targeted this same cause for a different condition. Quickly, Dr. Gordon put together a clinical trial of only 28 children to test her drug. However, due to the limited number of subjects for this trial as well as the severity and rapid progression of the disease, she made the calculated risk to conduct her trial without a placebo, which prevented her from comparing the effectiveness of lonafarnib against a baseline result.
For two and a half years, her 28 subjects from Wisconsin to India to Italy met together to undergo treatment and dozens of tests, but during this time, and additional 17 children had come forward seeking the same treatment. Dr. Gordon describes, exasperated, how she was unable to get these children the treatment they sought due to FDA regulations in the fulfillment of clinical trials, an unfortunate, but necessary, safety precaution in clinical trials that never gets publicized in success stories. The children who were are diagnosed after a trial starts are unable to reap the same (potential) benefits from the drug until after the completion and review of the study by a scientific journal.
This is just another reason why Dr. Gordon needed to race against the clock.
Finally, the clinical trial was completed, and after 17 months of revisions and putting together the official report, the lonarfarnib clinical trial for progeria was submitted to a scientific journal for review. The trial and all of its data needed to be unbiasedly reviewed and deemed successful for any further action to be taken by Dr. Gordon or by the U.S. FDA. As Dr. Gordon describes,
“If they [the scientific journal] like it, it gets published in an objective way, that says, ‘Yes, this is a drug that has potential to treat progeria.’ And that is a crucial step in asking the FDA for drug approval.”
Unfortunately, the first journal to review the progeria study rejected it.
So did the second.
The third required revisions to the data and submission.
Finally, after months and months of waiting and jumping through numerous hoops in the clinical trial process, the progeria study and lonafarnib were accepted.
Every child in the study showed improvement in their symptoms of progeria in some way over the course of the study, whether in bone density improvement, artery width and strength, or blood pressure. Even so, lonafarnib was a treatment, not a cure for progeria, and some members of the original study, including Sam, have passed on from the disease.
Lonafarnib was too little too late for some, but hopefully not for younger progeria patients or progeria patients soon to be diagnosed.
The progeria community has Sam’s mom to thank for this, and the rare disease community has Sam’s mom to thank for proving that there are people out there going through the clinical drug trial process with unwavering support and determination for rare disease patients everywhere.
Rest in peace, Sam Berns.
What do you think of Sam’s mom? What do you think about the clinical drug trial process? Share your thoughts with the Patient Worthy community!