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Family worries cost could keep drug from helping son with rare disorder

Ravicti could help children with certain seizure disorders, but at $740,000 a year families say it's unattainable.

Emily Holwick
Family worries cost could keep drug from helping son with rare disorder

Ravicti could help children with certain seizure disorders, but at $740,000 a year families say it's unattainable.

Hey, charlie charlie. It's been a rough couple of months with charlie kim fries. Life has become consumed with finding relief for her three year old son who suffers from a rare genetic disorder. It's called SLC six A one and causes seizures and developmental delays. He's been on seizure medications and we've had a lot of really hard side effects as she and other families raise money for gene replacement research. Another medication shows promise. It brought a lot of hope to all of our families that we might have a safe FDA approved drug with very few side effects. Horizon is a rare disease bio pharmaceutical company. The victim is made by Horizon therapeutics, which is donating the drug for an eight week trial in Children with seizure disorders. But the drugs price tag has came worried about what will happen when the trial is over $740,000 a year. It's over $2000 a day Since it's not yet approved for charlie's disorder insurance won't cover it. How do you look at your child and know that there's something out there that could help them, but you can't access it. She hopes the company will work with families like hers to make the medication affordable. We just want our kids to be healthy and to be happy uh, and to have a chance of life like everybody else does. Emily. Hallway kmbC nine News Horizon therapeutics tells KMbC nine they are awaiting the results of the trial before deciding the next steps in a statement, they said, Horizon is a company deeply committed to people living with a rare disease. We have a long track record of doing the right thing and ensuring that patients have access to our medicines and that is what we are doing in this situation.
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Family worries cost could keep drug from helping son with rare disorder

Ravicti could help children with certain seizure disorders, but at $740,000 a year families say it's unattainable.

Emily Holwick
A Kansas City, Missouri, family is hopeful an existing medication could help their son's rare disorder. However, with the cost at more than $700,000 a year, they're worried it's out of reach. "It's been a rough couple of months with Charlie," said Kim Fry. Fry said her life has become consumed with finding relief for her 3-year-old son, who suffers from a rare genetic disorder. "95% of rare diseases, including Charlie's, do not have an approved treatment," she said. The disorder is called SLC6A1, named for the gene it affects. It causes seizures and developmental delays. "He's been on seizure medications and we've had a lot of really hard side effects," Fry said. As she and other families raise money to fund gene replacement research, another medication shows promise. "SLC6A1 Connect funded a research study where we were testing approved FDA drugs to see if we could get a hit on anything that could help our kids, and Ravicti came back as a really strong option," Fry said. "We got super excited and it brought a lot of hope to all of our families that we might have a safe, FDA-approved drug with very few side effects."Ravicti is made by Horizon Therapeutics, which is donating the drug for an eight-week trial in children with seizure disorders like SLC6A1. The drug's price tag has Fry worried about what will happen when the trial is over. "$740,000 a year, it's over $2,000 a day," she said. "It's just not an option."Since it's not yet approved for Charlie's disorder, insurance won't cover it right now. "It's just really devastating and emotional to know that there's something that might help Charlie and I can't access it," Fry said. She said she hopes the company will work with families like hers to make the medication more affordable. "We just want our kids to be healthy and to be happy and to have a chance at life like everybody else does," she said. Horizon Therapeutics said they are awaiting the results of the trial before deciding whether to expand access to the medication. In a statement to KMBC 9, Horizon said:“We want to reiterate that this is an investigator-initiated trial, for which we are providing medicine at no cost. We have worked closely with the investigator to ensure there is a pathway to request treatment beyond the study period for participants in the trial. This will be based on the investigator’s clinical evaluation and institutional review board (IRB) oversight. Horizon has not denied access to our medicine for anyone in this trial."Horizon is a company deeply committed to people living with rare disease. We have a long track record of doing the right thing, and ensuring that patients have access to our medicines, and that is what we are doing in this situation.”In a phone call, Matt Flesch, Horizon's vice president of communications and patient advocacy told KMBC 9: "There are fewer than 1,000 people in the U.S. who currently are receiving Ravicti for its FDA-approved indication (urea cycle disorders). This is an incredibly small patient population. So it's priced as a rare disease medicine, but it reflects the investment that we put into developing it, but also the investment that we put into continuing to make the medicine available and supporting the community."He said that the trial will determine the next steps. "The reason that the study is happening is because it's important that there's data. They're monitoring closely the safety, the tolerability and that's why this is really the route to go, is for us to provide medicine at no cost for this clinical trial to help understand its effect in people living with STXBP1 and SLC6A1," Flesch said.He added, "We're a rare disease company, it's incredibly important to us that we're supportive of the community and that's why we're supporting this trial."In response, SLC6A1 Connect sent a statement saying:“Due to HIPAA, we cannot expand on other patient’s experience with Horizon, but SLC6A1 Connect disagrees with their statement. We are asking for assurance that the decision to access life-saving medication is between a patient and their doctor. Horizon should not dictate access to Ravicti based on an arbitrary price set to protect a financial moat.”SLC6A1 Connect is still working to raise upwards of $4 million to fund gene replacement therapy research, which could cure SLC6A1. So far, it has raised around $2.5 million. To donate, click here.
KANSAS CITY, Mo. —

A Kansas City, Missouri, family is hopeful an existing medication could help their son's rare disorder. However, with the cost at more than $700,000 a year, they're worried it's out of reach.

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"It's been a rough couple of months with Charlie," said Kim Fry.

Fry said her life has become consumed with finding relief for her 3-year-old son, who suffers from a rare genetic disorder.

"95% of rare diseases, including Charlie's, do not have an approved treatment," she said.

The disorder is called SLC6A1, named for the gene it affects. It causes seizures and developmental delays.

"He's been on seizure medications and we've had a lot of really hard side effects," Fry said.

As she and other families raise money to fund gene replacement research, another medication shows promise.

"SLC6A1 Connect funded a research study where we were testing approved FDA drugs to see if we could get a hit on anything that could help our kids, and Ravicti came back as a really strong option," Fry said. "We got super excited and it brought a lot of hope to all of our families that we might have a safe, FDA-approved drug with very few side effects."

Ravicti is made by Horizon Therapeutics, which is donating the drug for an eight-week trial in children with seizure disorders like SLC6A1. The drug's price tag has Fry worried about what will happen when the trial is over.

"$740,000 a year, it's over $2,000 a day," she said. "It's just not an option."

Since it's not yet approved for Charlie's disorder, insurance won't cover it right now.

"It's just really devastating and emotional to know that there's something that might help Charlie and I can't access it," Fry said.

She said she hopes the company will work with families like hers to make the medication more affordable.

"We just want our kids to be healthy and to be happy and to have a chance at life like everybody else does," she said.

Horizon Therapeutics said they are awaiting the results of the trial before deciding whether to expand access to the medication. In a statement to KMBC 9, Horizon said:

“We want to reiterate that this is an investigator-initiated trial, for which we are providing medicine at no cost. We have worked closely with the investigator to ensure there is a pathway to request treatment beyond the study period for participants in the trial. This will be based on the investigator’s clinical evaluation and institutional review board (IRB) oversight. Horizon has not denied access to our medicine for anyone in this trial.

"Horizon is a company deeply committed to people living with rare disease. We have a long track record of doing the right thing, and ensuring that patients have access to our medicines, and that is what we are doing in this situation.”

In a phone call, Matt Flesch, Horizon's vice president of communications and patient advocacy told KMBC 9: "There are fewer than 1,000 people in the U.S. who currently are receiving Ravicti for its FDA-approved indication (urea cycle disorders). This is an incredibly small patient population. So it's priced as a rare disease medicine, but it reflects the investment that we put into developing it, but also the investment that we put into continuing to make the medicine available and supporting the community."

He said that the trial will determine the next steps.

"The reason that the study is happening is because it's important that there's data. They're monitoring closely the safety, the tolerability and that's why this is really the route to go, is for us to provide medicine at no cost for this clinical trial to help understand its effect in people living with STXBP1 and SLC6A1," Flesch said.

He added, "We're a rare disease company, it's incredibly important to us that we're supportive of the community and that's why we're supporting this trial."

In response, SLC6A1 Connect sent a statement saying:

“Due to HIPAA, we cannot expand on other patient’s experience with Horizon, but SLC6A1 Connect disagrees with their statement. We are asking for assurance that the decision to access life-saving medication is between a patient and their doctor. Horizon should not dictate access to Ravicti based on an arbitrary price set to protect a financial moat.”

SLC6A1 Connect is still working to raise upwards of $4 million to fund gene replacement therapy research, which could cure SLC6A1. So far, it has raised around $2.5 million. To donate, click here.