For some parents, as soon as their child is diagnosed with a rare, progressive disease, the first thing they do is research whether there is a cure, a treatment, or an open clinical trial or one in the pipeline. With a progressive, life-limiting disease, time is of the essence, so absent an already approved treatment, delaying or missing enrollment of a clinical trial can actually be the loss of one’s only opportunity to save their child.
That certainly was the case for us. As long as clinical trials to treat the neurologic effects of disease have narrow bands of eligible cognitive scores (e.g., in the Shire Phase II/III intrathecal trial, a child generally must test between 55-85 cognitively on the DAS II test), once a child starts losing points, there is a short window of opportunity. Miss it, and there may not be another clinical trial in their lifetime for which they’re eligible. And in rare diseases with short lifespans, by the time the drug is FDA approved, the disease may have already taken its toll.
On the flip side, when patients don’t qualify for clinical trials, this hurts the sponsor pharma companies as well. It wastes funds, causes longer research timelines, risks viability of the program and eventual approval if enrollment cannot be completed. Some of this can be addressed in the appropriate design of the trial, best done with patient involvement (a topic to be addressed later), but many would be surprised by the myths that have slowed enrollment of rare disease clinical trials, even those that are appropriately designed.
After speaking with many families across rare diseases, I’ve compiled a list of myths that have affected the enrollment of patients in trials. These are actual experiences of families. Some were relayed to me in the course of the parent learning they had inaccurate information or had made these assumptions. Sadly, some were only discovered after some probing and then parents had to then cope with what might have been had they known the truth earlier.
1) My child’s doctor will let me know if there is a trial or if there’s anything we need to do. This is the biggest myth that I’ve seen. We have been raised to trust doctors. And frankly, caring for a cognitively impacted child (or two or three in some cases!) is a lot of work. However, early or later, parents of children with rare diseases often learn that they MUST be their child’s greatest advocate, researcher, and therapist. But in the early stages after diagnosis and for some parents who are deferential by nature, they assume that their child’s primary doctor will tell them everything they need to know – if there’s a clinical trial, if their child might qualify, and the state of the research.
I can’t blame physicians – there are almost 7,000 rare diseases. So to know the state of the research for all of them, or even the ones that walk through their door, would be almost impossible.
But this makes it all the more important for patient organizations and the sponsors themselves to reach patients and caregivers directly with appropriate, adequate, and accurate information about clinical trials, as well as reaching geneticists or other physicians caring directly for these patients. Some do webcasts, social media, patient organization mailers. But we also have to consider those patients not connected in patient organizations and/or not on social media.
2) My child won’t qualify. For some parents, this is an assumption they’ve made, whether valid or invalid, but in some cases, their local doctor, friends, or other parents have actually given this opinion. And once it takes hold, it can be difficult to find hope in a possible trial.
It’s one thing for inexperienced friends or family to say this, but my ire increases exponentially when a physician, other than the principal investigator of the trial, says this to a parent. It does happen. It has happened. It shouldn’t.
What should happen is a conversation between the parents and the principal investigator or clinical trial coordinator about the child’s potential for qualifying and then if it seems possible at all, actual formal screening for the trial. But in order for that to happen, the parents first need to connect with their physician or the PI/coordinator about the trial specifically.
3) I can’t afford the travel costs for a clinical trial. Many families do not realize that the sponsor companies, especially in rare diseases where traveling long distances to trial site is almost certain, pay travel expenses, and often, a daily stipend.
First, let me emphasize that generally that does not cover all the expenses a family might incur from participating in a clinical trial (consider child care for siblings, missed work, extra groceries, rewards for the affected child to undergo tests and procedures, etc.), but it does make it possible for many families. I always suggest that families try to have a fundraiser to cover the myriad of extra expenses that are brought on by participating in a rare disease clinical trial.
But where parents, unfamiliar with the concept of clinical trials, believe they have to come up with funds for flights, hotel, rental car, and the like, in addition to missing work and paying for additional child care, you could see how they throw up their hands and say, “I wish we could, but we can’t afford it.” This is another topic that requires accurate information given directly to families.
4) I can’t figure out the logistics of making it happen in our family. Especially in families with additional children, either unaffected or especially if affected as well, parents are sometimes daunted by the challenges to their schedule that a clinical trial could create.
For example, in the Phase I/II trial in which Case participated, for the first seven months, we were gone for nine days each month – that was 9 days of someone with me, 9 days of child care for my other two children (my husband sometimes travels with work), 9 days I couldn’t work, separate groceries, etc.).
Imagine a single mother, or a family with several siblings, especially young ones, or even two working parents, and you start to see the logistical complications. Add that to the financial challenges, and it can seem overwhelming.
There is little that a sponsor company can do in this regard, other than designing the trial in such a way that it doesn’t require long periods away from home or other daunting commitments, allowing for a travel companion to help care for the child (our trial originally only paid for one parent to travel with the child – an extremely challenging situation – imagine no showers, can’t leave their side, etc., until a parent made them understand that we needed an additional person to survive these trips), offering appropriate travel and accommodations and an adequate stipend.
However, this is where patient organizations and other parents can come alongside and walk parents through how it can be done or how they could assist. In our Phase I/II trial, that happened often. Many of us had our “person” – that parent of a child who enrolled earlier, who helped us think things through and figure out some of the logistics.
5) A clinical trial is very risky. Parents sometimes see the 20-page informed consent, with its list of tests and procedures, the risk of each one being everything including death, and determine that it is a multiplied risk of death, much higher than the risks of the disease itself. Some never even reach the informed consent stage and just assume, because a drug or procedure is experimental, that it is inherently a greater risk than the disease. While risks in a clinical trial should never be taken lightly, they need to be weighed appropriately with the individual child’s risks, the disease’s expected course, and the potential of the experimental treatment.
In a progressive and terminal disease like the severe form of Hunter Syndrome, many parents know that the alternative to an experimental treatment is a certain slow(er) and painful death. At the end of the day, every parent has to weigh those factors themselves, but a well written informed consent, and an open and honest dialogue with the PI or trial coordinator, as well as potentially with other parents, is often the best course in helping to understand and weigh those considerations.
As parents, we all have fears, but I’ve found from our experience that when parents of children with the same disorder and thus similar risks and potential benefits discuss the issues surrounding a clinical trial, we all become more well informed, more thoughtful in our decisions, more observant in our participation, and more helpful to the drug evaluation process.
If trials could dispel those top 5 myths, we could likely speed enrollment of these trials and bring lifesaving treatments to our children more quickly.
Were there facts you didn’t understand about clinical trials that you later learned?