Testing…One, Two, Three / What to do when your child develops a life-threatening disorder? Some parents roll the dice with experimental medicine.

Elaine Rogers
May 2017 in
May 16, 2017
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It started seven years ago when Matthew, then an active, bright 7-year-old, began complaining that it was hard to walk. Though he’d had some developmental delays as a toddler and received on-site physical therapy through his child care center in Lewisville, this malady was new. He’d suddenly collapse in the parking lot and lament about numbness in his feet. His mother, Teresa Wood, 47, made an appointment with a neurologist.

Matthew was diagnosed with Duchenne multiple dystrophy (DMD), a rare incurable condition that attacks muscle function, gradually robbing a person of the ability to walk, move their arms and care for themselves. And eventually, lung and heart function fall prey to its deadly grasp.

“When a doctor tells you your child has a terminal illness, you go into hyperdrive with research and finding Facebook groups of other parents dealing with the same diagnosis,” Wood explains. “You become part of this whole community of families facing the same fears and challenges. You find out where the best specialists in the country are who are dealing with this disease. And you learn about the clinical trials that can give you access to the newest treatments. It’s just what we all do.”

That’s because, for some, like Matthew, whose DMD is caused by a specific nonsense mutation, there aren’t any approved therapies to treat it (at least not right now). And understandably, Wood is not content to accept losing her son to DMD.

A Study in Participation
Desperate for answers, Wood and parents in similar situations frequently turn to clinical trials as a way to receive access to experimental drugs when other options have failed or simply haven’t been presented.

Clinical research trials are studies that help doctors better understand diseases and explore potential new treatments or prevention. In a clinical trial, typically led by a doctor, participants receive specific interventions, which might include drugs, devices, procedures or a regimen of dietary changes, for instance.

Dr. Drew Bird, the director of the Food Allergy Center at Children’s Health in Dallas and an associate professor of pediatrics at University of Texas Southwestern Medical Center, oversees several clinical trials, including studies on patients with life-threatening reactions to allergens such as peanuts.

“The way trials are designed, they require large numbers of individuals with the same disease to be studied in multiple places by multiple doctors using a standard approach,” he explains. “This determines whether the effect of that intervention is actually valid or whether it’s like snake oil — where, whether it’s a placebo or the treatment, it didn’t make any difference in the kid.”

Clinical trials have a very specific participation criteria, so all patients with a given disease or condition may not be eligible.

Luckily, there was a clinical trial already in progress at Cook Children’s in Fort Worth that Ambrea and Tim Jones’ then 5-month-old daughter, Atia, was eligible for. The infant was diagnosed with Pompe, a rare inherited neuromuscular disorder that causes progressive muscle weakness and swelling of vital organs. The condition is caused by a lack of the enzyme alpha-glucosidase (GAA) and makes it impossible for the body to break down glycogen, the molecule used to store energy from sugars. As a result, glycogen builds up in muscle tissues, including the heart, where it did in Atia, with deadly consequences.

According to Jones, 28, the now 18-month-old Atia’s only chance for survival is continued access to an experimental treatment with the drug Lumizyme through the ongoing enzyme replacement therapy (ERT) clinical trial at Cooks Children’s. Researchers hope it will slow the progression of the disease.

“Our bottom line is that if there wasn’t a clinical trial, we wouldn’t have access to this drug and it would mean certain death. That would be it,” says the Fort Worth mom.

Going It Alone
Unfortunately, things didn’t fall into place quite as seamlessly for Matthew. Wood says she learned pretty early after the diagnosis that they were on their own.

“The medical [staff] didn’t tell us anything about treatments or choices we might have or clinical trials,” she says. “Either they didn’t know or they didn’t consider them effective, but we realized pretty quickly that we were going to have to become medical experts about this on our own.”

Turning to the internet for information about DMD and drugs that were being tested for the treatment of it, Wood frequented clinicaltrials.gov, a registry of ongoing studies around the world organized by categories such as disease and location. Researching clinical trials based in Dallas and elsewhere, she began pursuing studies for patients with DMD caused by the same nonsense mutation that Matthew has.

Wood educated herself on potential treatments in various stages of research, including heart medications and steroid treatments used with some success on other DMD patients. She took Matthew to a renowned DMD specialist in Cincinnati and sought a prescription for ataluren, marketed in the United Kingdom under Translarna by PTC Therapeutics, Inc. and not available in the United States.

The Waiting Game
Matthew had to wait “four terrible years” to gain access to ataluren. Roadblocks included being too young for a study, then being too late — a study was already underway — and finally, receiving a placebo once he finally qualified.

“You have to stay with a [placebo-based trial] for 46 weeks even if you’re getting worse and know you’re not receiving the treatment you were hoping for,” Wood bemoans. “It’s extremely frustrating.  … They hold out this carrot. If you stick with it, they’ll eventually let you get the drug by putting you in an extension study.” Now Matthew, 14, takes Ataluren in a powder form dissolved into a bowl of applesauce, three times a day, “and it has helped him a lot,” she says.

This long and frustrating process that Wood finds herself in is not unusual. The Food and Drug Administration’s approval process requires testing and retesting potential treatments — drug companies conduct four phases, which typically last years, of clinical studies in the slow march to marketability and FDA approval.

“I understand that they have to test drugs for safety as well as efficacy, and they want to make sure there aren’t any dangerous side effects,” Wood says. “But from where I sit, testing a drug for 10 years seems a little insane. A lot of people are dying from the disease during this time, and if there’s a drug out there that could be helping them and significantly improving people’s lives, at some point, they’ve got to move forward and save lives.”

During a Congressional hearing in March, Janet Woodcock, the FDA’s director of the Center for Drug Evaluation and Research (CDER) said the FDA is trying to shorten approval times by working with drug companies to help them plan their clinical trials to yield the best scientific results and shorten the drug development phase.

And while the FDA press officer Sally Walsh wouldn’t comment specifically on the timelines for medications such as ataluren, she did point out that another drug for the treatment of DMD, eteplirsen or Exondys 51, recently received “accelerated approval,” granting earlier patient access while the manufacturer conducts additional clinical trials to verify the predicted benefit.

The term “accelerated approval” makes for a happy headline, but Walsh explains that drug development is conducted by the drug manufacturers, and their timelines vary widely.

“And even under the best circumstances, accelerated approval may lead to decisions that are not verified upon further examination,” Walsh explains.

According to the FDA, 70 percent of drugs generally move from Phase I, which only seeks to determine a drug’s toxicity, to Phase II, where the drug’s efficacy is tested. That percentage falls dramatically after that. Only about 33 percent of drugs make it to Phase III, which includes testing hundreds or thousands of patients. And Phase IV trials occur after a drug has achieved FDA approval and vary drastically based on what specifically the FDA wants to test or prove about a treatment.

Financial Roadblocks
It costs about $2.6 billion to develop a drug and win approval from the FDA, according to a 2014 report from the Tufts Center for Study of Drug Development.

Thankfully, federal law requires most health insurance plans to cover routine patient care costs in clinical trials, assuming the study is approved, the patient is eligible and the trial doesn’t involve out-of-network doctors or hospitals.

Atia currently receives biweekly intravenous infusions of Lumizyme, which her insurance covers. Her mom, however, notes that the toddler showed better muscular control when she received weekly doses, but insurance won’t cover the expense of the more frequent dose because the FDA’s recommended guideline limits the dosage to 20 milligrams per killigram of body weight every two weeks.

“We’ve been really grateful to be able to participate in the clinical trial and get this treatment,” Jones says. And Atia is doing well. She can’t walk due to her inability to lift the front part of her foot, a symptom of Pompe, but it doesn’t bother the toddler who still seems intent to try. Jones, however, is still understandably frustrated. “It’s scary when you can’t get the weekly dosage of something you believe your child needs because it’s still considered experimental.” 

Looking Ahead
Doctors look at clinical studies as a way to expand medical knowledge.

An essential part of the clinical trial process revolves around data collection and the idea that participants’ responses to treatment with an experimental drug will be compiled and shared by researchers so they can determine effective and safe doses for future use on patients with the same condition, or others.

Bird calls this aspect of trials the “global footprint.”

“What we learn from these trials can really affect the lives of kids in the near future but also for generations,” Bird explains. “[They’re] incredibly important for changing the face of how we deal with some of these diseases we’re trying to treat.”

Parents like Wood and Jones can appreciate this, that these clinical trials may pave an easier path for treatment for other children diagnosed with DMD or Pompe, respectively. But for now, they view these experimental drugs and treatments as the potential magic potion to prolonging life for their children.

Yet some clinical trial drugs may prove to have harmful side effects down the road.

So parents have to weigh the benefits against the risks of adverse side effects of the treatments they agree to — some known, others undiscovered.

“Everything comes with risks and drawbacks,” Wood says. “That’s just part of this. It’s a real interesting process for parents to figure out what you’re willing to do and what you’re willing to live with as a result of getting on these different drugs.”

Matthew has taken growth hormones and steroids, the only FDA-approved treatments currently at his disposal and endured side effects like osteoporosis and delayed puberty along the way. His mom signed him up for both the heart medicine and steroid clinical trials she found, he’s taking ataluren, and they travel each year to Florida to participate in a study that measures muscle function with MRIs rather than painful muscle biopsies.

For now, Wood says she’s grateful that Matthew’s disease hasn’t progressed as far as it has for other DMD patients the family knows. Her son can still walk (he uses a power scooter at school; “his safety bubble,” his mom says). But she also stays vigilant in her pursuit of news about other investigational drugs she finds on clinicaltrials.gov. She believes she must in order to “to fight for [Matthew] and give him the chance at a longer life.”

Sign Me Up

There are a number of resources to turn to, to find clinical trials in the Dallas-Fort Worth area. Here, a few places to check.

They say at Children’s Health that research is a way of life. In conjunction with the University of Texas Southwestern Medical Center, current research focuses on sickle cell disease, psychiatry and more. Find more information by searching Children’s Health on clinicaltrials.gov.
Dallas, 214/456-7000
Plano, 469/303-7000

Follow the link on Cook Children’s website under active research projects to find the list of their current clinical trials on clinicaltrials.gov.
Fort Worth, 682/885-7491

To find a list of current research trials underway at Medical City Children’s Hospital, visit clinicaltrials.gov and type Medical City Children’s Hospital into the search bar. Dallas, 972/566-6060

Or go straight to the source. You can search clinicaltrials.gov by your child’s condition. A recent search in the Dallas-Fort Worth area, for instance, yielded open studies for autism, cerebral palsy and epilepsy, among others.

Doctor Approval

Before enrolling your child in a clinical trial, experts encourage you to talk to your child’s doctor. A physician can provide background information that may help you make a more educated decision about participation. They may also be able to help you obtain insurance coverage or financial aid. You should also get answers to the following questions before signing up:
1. Why do researchers believe the intervention might be effective?
2. What are all the possible interventions my child might receive during the study?
3. How will it be determined which interventions my child receives?
4. What are the possible risks and side effects?
5. How often will we have to make hospital or clinic visits?
6. How long will the study last?
7. Who pays for participation?
8. What does follow-up care look like?
9. If my child benefits from the trial, will he continue to receive it even after the trial ends?
10. Who will oversee my child’s care during the study


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