How Clinical Trials Give Families Hope
- A Connecticut boy, 5, diagnosed with a rare neurodegenerative disorder, is just one of 87 children worldwide living with spastic paraplegia (SPG50). His supportive parents are placing their hopes on a relatively new clinical trial (Melpida) to counter cognitive loss and give him a chance at a normal life.
- SPG50 is a “slowly progressing neurodegenerative disorder that generally presents with global developmental delay,” according to the National Organization for Rare Disorders (NORD). Symptoms may include cognitive and physical delays, including impaired speech and seizures, and impact muscle development.
- Clinical trials allow patients to try a treatment before it’s approved by the U.S. Food and Drug Administration (FDA), which can potentially be life-changing for patients.
- Despite the great benefits of clinical trials, they also come with risks (like potential side effects that are not fully understood yet). People interested in participating in clinical trials must first talk with their doctor to see if they would be a good fit.
- For help finding a clinical trial that’s right for you, try our easy-to-use Clinical Trial Finder.
A Connecticut 5-year-old and his family are pouring all their hope into a clinical trial that uses a gene therapy treatment to give the boy with a rare neurodegenerative disorder a chance at living a relatively normal life.
“He loves to laugh,” Mike Dwyer told WTNH news while describing his young son Jack who is diagnosed with Spastic paraplegia 50 (SPG50).
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SPG50 is a “slowly progressing neurodegenerative disorder that generally presents with global developmental delay,” according to the National Organization for Rare Disorders (NORD).
The rare disorder affects only about “87 children worldwide,” WTNH reports.
Jack’s parents say they “agonized” over whether to participate in the clinical trial because there are “no guarantees.”
“We saw Jack declining, and we saw him potentially losing the ability to walk, which is terrifying,” Jack’s mom Devin said.
Young Jack just started kindergarten, which would normally be an exciting time for the family. However, anxiety hovers over the Dwyer family because they believe the therapy is their son’s only hope.
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“We’re cautiously optimistic…He’s progressing cognitively, he’s not declining from a physical standpoint like he was before,” Devin Dwyer said.
Adding to the family’s stress load, treatment costs nearly half a million dollars. The family has launched fundraisers to help cover the astronomical costs.
“He deserves to live an independent life, to go to college. He deserves every chance in the world, and my hope is that the very scary choice we made gives him those opportunities,” Devin said.
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Understanding Jack’s Rare Disease
Spastic paraplegia 50 can cause impaired speech and seizures and impact muscle development, resulting in some patients relying on a wheelchair, according to NORD.
Children impacted by the rare disease may present a few symptoms, including delayed motor development, late walking, loss of walking ability, high palate, protruding tongue, or club feet.
SPG50 is hereditary, meaning parent(s) carrying a mutated gene (AP4M1) who pass it to their children increase their child of getting the disorder.
Jack’s Hopeful Treatment
The treatment Jack’s family hopes to give him a chance at a relatively normal life is a gene therapy called Melpida.
According to the government’s clinical trials website, the treatment involves an injection to “counter the neuronal loss.” Since the treatment is in clinical trial stages, patient outcomes will be evaluated for the safety and tolerability of the treatment. The study began in February 2023, and the primary completion date is expected to be October 2028.
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Thankfully, Jack is surrounded by supporters, most notably his loving parents. Family members caring for a child diagnosed with a disease or cancer can be stressful. Family support not only eases the anxiety of the cancer warrior but also helps their loved ones.
Caregivers of loved ones battling a condition must also watch out for “caregiver burnout,” where stress, anger, fatigue, and illness emerge from putting another person’s needs ahead of yours.
Caregivers who struggle to care for their loved ones should seek out a therapist or a support group, either online or in person.
How Do Clinical Trials Work?
Within the U.S., all new drugs must go through clinical trials before the FDA approves them. Although the rewards of clinical trials can be great, they also come with risks. Talking to your doctor about this before enrolling in a trial is essential. Some risks to consider include:
- The risk of harm and side effects due to experimental treatments
- Researchers may be unaware of some potential side effects of experimental treatments
- The treatment may not work for you, even if it has worked for others
Before you enroll in a trial, you must be allowed to read the consent documents thoroughly and to ask any questions you may have. The documents will likely contain the following:
- The purpose of the research
- Any risks and benefits expected from the research
- Information about procedures that may cause discomfort (like frequent blood tests)
- Any alternative procedures the patient might consider instead
- How the patient’s information will be kept private
- How long the study is expected to take
- A form confirming you are participating in research voluntarily
- Whether any compensation or additional medical care is available if some injury occurs
- The patient’s rights (like the right to stop research in the middle of the trial)
- Contacts for any patient questions
Patients are allowed to walk away at any time during the trial. Understanding your rights as a voluntary patient is essential before participating in a clinical trial, and understanding that the treatment may not work is also crucial.
Costs of Clinical Trials
Clinical trials may also have no extra cost for the participants, as the study’s sponsor may pay for the treatment and any additional care. Some sponsors even pay for travel to and from appointments or treatment centers. Patients should ask what will be paid for before signing up for a trial.
The Affordable Care Act also mandates that health insurance companies cover routine patient care costs while people are enrolled in clinical trials.
While some participants receive the real thing during the treatment of an experimental drug in a clinical trial, others do not. These participants received a placebo.
The placebo is “an inactive substance or other intervention that looks the same and is given the same way as an active drug or treatment being tested. The effects of the active drug or other intervention are compared to the effects of the placebo,” as defined by the National Cancer Institute.
In some cancer clinical trials that are “randomized,” patients who enroll are randomly assigned to receive either a placebo or the new experimental drug being studied. If the clinical trial is “double-blinded,” that means that neither the patients nor the doctors running the clinical trials know who’s in which group. This is an essential part of a clinical trial design because it safeguards against bias and the possibility of skewed results.
It’s important to know that getting zero treatment isn’t usually the reality of the “placebo arm” anyway.
Instead, when patients with life-threatening cancers enroll in randomized clinical trials, the two groups are often broken into the new, experimental drug and a “control” group that receives the “standard-of-care” treatment.
Treatments considered standard of care are those that experts accept as the go-to treatment for specific cancers. Standard-of-care, in other words, is the most used treatment.
In many cases, it might involve a combination of chemotherapy, surgery, or radiation, but not always.
How to Find a Clinical Trial
If you want to participate in a clinical trial, your first step should be to talk with your doctor. He or she can address many of your initial questions and help you determine if you would be a good participant.
Another crucial part of clinical trials is finding the right one for you. SurvirorNet has a resource to help with this called the Clinical Trial Finder.
The portal provides resourceful information to more than 103,000 active clinical trials. You can research this tool for yourself or someone else based on a few simple questions about your condition and location.