Published Aug 6, 2024

Families Heartbroken After Clinical Trial Studying Drug To Help Children With Rare Genetic Disorder Is Canceled

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Finding Hope In Clinical Trials

Swiss healthcare company Roche recently cancelled a clinical trial put in place to study a drug to help children with a rare genetic developmental disorder called Dup15q syndrome.
The study looked into the “safety, efficacy, and pharmacodynamics of 52-weeks of basmisanil treatment in children and adolescents” between the ages of two and 14 with Dup15q syndrome, a neurodevelopmental disorder.
If you’re looking for a clinical trial, check out our SurvivorNet Clinical Trial Finder.
Clinical trials are crucial when it comes to advancing scientific research and can be life-saving for children and adults with diseases like cancer.
Clinical trials can be an option for people with cancer at many points during the treatment process. Your doctor may have spoken with you about possibly enrolling in a trial if you have advanced disease or if there’s a drug that’s currently considered investigational that may work better than the standard for you.

An international clinical trial, conducted by the Swiss healthcare company Roche to study a drug to help children with a rare genetic developmental disorder called Dup15q syndrome, has been canceled—prompting heartbreak among families hoping to find a life-changing medication for their loved ones.

The study, which was running in Poland, Portugal, Spain, United Kingdom, and United States, and has since been terminated, was initially put in place to evaluate the “safety, efficacy, and pharmacodynamics of 52-weeks of basmisanil treatment in children and adolescents” between the ages of two and 14 with Dup15q syndrome.

Check out our SurvivorNet Clinical Trial Finder

“Dup15q syndrome is a neurodevelopmental disorder characterized by having an extra copy of a portion of chromosome 15 in the 11.2 – 13.1 region in combination with a number of symptoms that may include hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy, including infantile spasms,” the Dup15q Alliance explains.

Roche states on its website that the trial contained two parts. The trial was halted as it was in the second phase of the study.

“Part 1 will test the hypothesis that negative allosteric modulation of a GABAA receptor subtype can address excessive receptor function and positively impact core neurodevelopmental disease feature in individuals with Dup15q syndrome,” the company says.

“Part 2 is an optional 2-year open-label extension to evaluate long-term safety, tolerability, and to provide supportive evidence of benefit of continued treatment with basmisanil in selected efficacy outcomes.”

Since Roche’s decision to cancel the clinical trial, STAT News has reported on the terminated study and how it’s shocked parents of children enrolled, pointing out how the company cited in a recent report that trade-offs were made “to increase the overall portfolio value.”

SurvivorNet’s Guide To Clinical Trials: What Are They And Are They Right for You?

Speaking to STAT News about the cancelation, mom Shannon Sadecki, whose son was taking part in the clinical trial, said, “To go through what we went through and then have not even any glimmer of a result. I don’t even have a word for it.

“Words can’t explain how devastated we are.”

Sadeki, whose son Logan is nonverbal 10-year-old who has autism and wears a diaper, will not be able to know whether her son had been taking a placebo or the medication, but she did recount him improving his speech and taking part in more activities

STAT News points out that sometimes clinical trials get cancelled due to budget cuts, but often times it’s not shown how the cancelations affect families involved.

At the time of the termination of the Basmisanil Treatment study, seven children, three of them in the U.S., had already gone through the first phase of the trial.

Holly Fernandez Lynch, a lawyer and bioethicist at the University of Pennsylvania, also told STAT News that Roche’s move to stop the trial is legal, but in her opinion, “bad behavior.”

However, STAT News points out that Roche’s performance overview has dropped some other types of research on other drugs, with Lynch commenting, “It’s an awful thing to string families along. You don’t treat colleagues and collaborators like that.”

Meanwhile, pediatric neurologist and principal investigator for the study, Elizabeth Berry-Kravis, said, “It felt like Roche was jerking families around.”

Roche made the following statement to STAT News, “We regularly review and evaluate our portfolio to focus on the programs that enable us to consistently deliver the most impactful medicines to patients as quickly as possible. This meant that earlier this year we took the difficult decision to not move forward with the development of basmisanil.

“We are fully aware that this decision has caused disappointment and concern for patients and their families. We recognise the challenges that people living with Dup15q syndrome face [and] the decision to end this trial was not taken lightly, especially given the potential impact on patients already enrolled in the study.”

The spokesperson for Roche told STAT News that they are in search for “an external partner to further develop” basmisanil.

Understanding Clinical Trials

Clinical trials are available for eligible cancer patients if other treatment options don’t seem to work. A clinical trial can be defined as a research study that compares the most effective known treatment for a specific type or stage of a disease with a new approach.

Participating in one does not guarantee you will get the most effective treatment and they are certainly not for everyone, but it does give you the chance to potentially access new, cutting-edge treatments while advancing science.

Before getting involved in a clinical trial, talk with your doctor(s) and consider the following general risks of enrolling:

The risk of harm and/or side effects due to experimental treatments
Researchers may be unaware of some potential side effects for experimental treatments
The treatment may not work for you, even if it has worked for others

“Clinical trials are critical to the development of new therapies, and as we live through this extraordinary revolution in genomics, immunotherapy and targeted therapy, it’s clear that one of the most pressing needs for patients, clinical trials sponsors, and researchers is simply a better way to find patients,” SurvivorNet CEO Steve Alperin said.

“Even one percent more people successfully enrolled in clinical trials can change the world.”

Why I’d Choose a Clinical Trial For Myself

Your doctor may have spoken with you about possibly enrolling in a trial if you have advanced disease or if there’s a drug that’s currently considered investigational that may work better than the standard for you.

A lot of patients may feel uncomfortable about the thought of participating in a trial, but the trials can provide amazing opportunities for patients. For one thing, they give patients access to a bevy of new drugs that are currently being developed by pharmaceutical companies.

If participating in a clinical trial is something you think you may be interested in, the government has a list of trials that are currently ongoing. SurvivorNet also has a tool to help you find trials for your particular disease.

Clinical Trials Can be Life-Saving for Some

Who Can Sign Up for Clinical Trials?

If you’re interested in taking part in a clinical trial, the first thing to do is to speak to your doctor about the possibility of a trial. Blindly searching trials on the internet might not be the best advice available; using either the government’s clinical trials database or SurvivorNet’s resources specifically for cancer patients is your best option.

However, just because you’re willing to take part in a clinical trial doesn’t necessarily mean you will be able to join. These trials have specific criteria that patients need to meet in order to take part. At the end of the day, even though these trials can have incredible results and provide you with access to cutting-edge therapies, these are controlled experiments.

For each trial, there will be certain inclusion and exclusion criteria.

Why Do People Get Excluded From Clinical Trials?

Sometimes, patients may be excluded from certain trials if their cancer has spread to their brain. If the metastases aren’t under control, the patient may be unable to participate because researchers are concerned that they won’t be able to complete the whole study.

There are options for people who may not be eligible for the clinical trials they wish to participate in, but still want to try the therapies. A few years ago, the U.S. passed something called “Right to Try” legislation. This gives terminally ill people access to highly experimental drugs that are in “phase one” of the clinical trial process.

Your doctor may also request access to a single patient IND (investigational new drug) on your behalf, which can also give access to treatments that the FDA has not yet approved.

What can be done about the lag in pediatric drug approvals?

Clinical trials are a critical tool when it comes to advancing drugs, but there is a huge lag in drug approvals when it comes to advancing therapies for children. In fact, the average time between regulatory approval and the labeling of new therapies for adults and children is nearly 10 years.

SurvivorNet spoke to Dr. Cindy Jackson, a pediatrician and chief operating officer at the Institute for Advanced Clinical Trials in Children (I-ACT for Children), about why approvals for pediatric drugs take so much longer and what can be done to close that gap so that children can get the care they need.

Unfortunately, Dr. Jackson explains, there is not a whole lot of incentive for pharmaceutical companies to study drugs for children. Children make up a very small number of people with chronic illnesses or conditions that require serious therapies.

“Clinical development is done by for-profit companies,” Dr. Jackson explains. “Those for-profit companies sell drugs to help patients, but they also need to make a profit. The market in pediatrics is very, very small. Only 25% of the population is less than 18, and even fewer of those under 18 years old have chronic conditions that will require long-term therapy, there’s no market advantage really.”

Because of this small number, the companies that make and study drugs may not see financial opportunity in putting resources into pediatric clinical trials and that’s a real issue. Legislation passed in the U.S. the Pediatric Research Equity Act (PREA) and Best Pharmaceuticals for Children Act (BPCA) aimed to incentivize drug makers to study treatments for children, and required these studies in certain situations, but there is still a lag.

“Were it not for those rules and regulations, these trials wouldn’t be done,” Dr. Jackson explains. “There’s very little incentive for pharmaceutical companies to do those trials, but the laws are very helpful.”