There’s evidence fragile X symptoms can be reduced with an experimental drug
A MARTÍNEZ, HOST:
Here's some hopeful news for people with Fragile X syndrome. That genetic disorder is the leading inherent cause of intellectual disabilities and autism. And now there's growing evidence that its symptoms can be reduced with an experimental drug.
JASON MAZZOLA: It helps me focus a lot, helps me get more confident, more educated.
MARTÍNEZ: NPR's Jon Hamilton reports on how a treatment developed for Alzheimer's patients could help people with Fragile X.
JON HAMILTON, BYLINE: Just a couple of years ago, conversations were really hard for Jason Mazzola, who is now 24. But on this day at his home in a Boston suburb, Jason chats away about his hobbies.
J MAZZOLA: I like golf a lot 'cause I play with my dad.
HAMILTON: Your dad's a golfer?
J MAZZOLA: Yeah.
HAMILTON: You good off the tee - driver?
J MAZZOLA: Yeah, driver, and I'm good at the iron.
HAMILTON: Jason's mother, Lizzie Mazzola says a drug called zatolmilast has transformed her son.
LIZZIE MAZZOLA: He's always wanted to be social. He's a friendly person. But because his communication skills were so impaired, he struggled to put his thoughts into words.
HAMILTON: That's true for lots of people with Fragile X syndrome. The condition alters the X chromosome, making one segment appear fragile or broken. This blocks production of a protein that's important to brain development. The result can be autism, ADHD, anxiety and a range of intellectual disabilities. Mazzola says Jason struggled with language.
L MAZZOLA: He could hardly talk by 3. At 4, he started to put some words together but really wasn't talking in sentences.
HAMILTON: Jason's twin sister, Jessica, also has Fragile X but with milder symptoms. That's often the case with female patients who typically have two X chromosomes, one of which is unaffected. Mazzola says Jessica went on to college, while Jason still had a lot of difficulty communicating.
L MAZZOLA: He didn't talk. He withdrew. He wanted to be there. He wanted to be next to you. But if someone asked him a direct question, he was completely anxiety-stricken. It was too much for him.
HAMILTON: By the time Jason was a teenager, scientists had begun studying the link between Fragile X and an enzyme involved in cognitive impairment. Funding came from the FRAXA Research Foundation, a group founded by the parents of a child with Fragile X. Dr. Michael Tranfaglia is FRAXA's medical director. He says one day, the group got a call from a small drug company called Tetra Therapeutics.
MICHAEL TRANFAGLIA: They had this drug in clinical trials for Alzheimer's disease, but they wanted to explore the possibility of using their drug in Fragile X.
HAMILTON: ...Because it targeted the same enzyme FRAXA had been studying. Much of the Fragile X research has been done by Dr. Elizabeth Berry-Kravis at Rush University Medical Center in Chicago. Pretty soon, she got a visit from a Tetra executive.
ELIZABETH BERRY-KRAVIS: Mark Gurney, who was the head of the company at the time, came to my office and said, hey. You've got this mechanism that you've been, like, waiting for a drug for 28 years, and we've got a drug.
HAMILTON: ...Zatolmilast. So Berry-Kravis gave zatolmilast to 30 adult males with Fragile X. The results were unequivocal.
BERRY-KRAVIS: We saw an improvement in a cognitive test that patients take on an iPad, where it tests their memory and their vocabulary and their ability to read and things like that.
HAMILTON: That led to a much larger study, open to males as young as 9. It's funded by the Japanese drug company Shionogi, which acquired Tetra. Lizzie Mazzola decided to sign up Jason because she'd heard good things about the drug.
L MAZZOLA: It just seemed different, the fact that it was affecting their cognition, and IQ scores were actually improving.
HAMILTON: At first, Mazzola and her husband didn't know if their son was getting zatolmilast or a placebo. Within a few weeks, though, Jason did something remarkable.
L MAZZOLA: On his own, he walked into the office and started talking to his father. And my husband was like, he's on the drug. He has to be. He's never done that.
HAMILTON: Mazzola says Jason is still taking the drug and still improving.
L MAZZOLA: I have a different child in my house. He cooks for himself. He can take care of the dog. He empties the dishwasher, takes the trash out. He can run the house by himself.
HAMILTON: A scientific verdict on the drug will come out when the study is completed, probably in 2025.
Jon Hamilton, NPR News.
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