Caregivers saw improvements in patients given Daybue in Rett trials
In interviews, carers described 'significant impact' of now-approved therapy
Treatment with Daybue (trofinetide) in clinical trials helped girls and young women with Rett syndrome to communicate and use their hands better, according to interviews with caregivers of participants in two studies that tested the now-approved therapy.
“Caregivers from both trials described a range of improvements, including increased engagement and interaction with others through verbal (e.g., new sounds and words) and nonverbal (e.g., improved eye contact) means; improvements in hand use, mobility, and motor skills that affected functional capabilities; and improvements in mood and ability to focus,” the researchers wrote.
The team interviewed caregivers of more than 30 patients — about three-quarters of whom had a mean age of 12.3 years; the rest, involved in the other study, had an average age of 4.5 years — who had taken part in the open-label trials. All but one of the caregivers reported being “very satisfied or satisfied” with the drug.
According to these interviews, “the improvements [seen with Daybue] had significant impact on the social and physical function of participants, including better ability to communicate and interact with others and be included in family activities,” the researchers wrote.
“Finally, it came out—this is what I’m trying to say!” one caregiver said about the improved communication skills seen in a child who took part in one trial.
The study, “Assessing Experiences With Trofinetide for Rett Syndrome: Interviews With Caregivers of Participants in Clinical Trials,” was published in the journal Clinical Therapeutics. The work was funded by Acadia Pharmaceuticals, the company that sells Daybue. Half of the six researchers work for Acadia, which is based in California.
Caregivers say lack of communication was biggest issue pre-trial
Rett syndrome is a genetic disorder characterized by abnormal behaviors, trouble controlling body movements, and difficulty communicating. In 2023, Daybue became the first Rett treatment to be approved in the U.S. It was approved last year in Canada, and Acadia recently applied seeking approval in the European Union. The oral therapy is thought to work by improving the health of connections between nerve cells and reducing inflammation.
Prior to its approval, Daybue had been tested in two main clinical trials: LAVENDER (NCT04181723) and DAFFODIL (NCT04988867),
The Phase 3 LAVENDER trial, along with its extension studies LILAC-1 (NCT04279314) and LILAC-2 (NCT04776746), had evaluated the effects of Daybue in girls and young women, ages 5 to 20, with Rett syndrome. DAFFFODIL, a separate trial, had tested the therapy in younger girls with Rett, ages 2 to 5.
The results from these studies showed that Daybue treatment led to normalization in standardized measures of behavior and communication abilities. As part of the studies, some caregivers of participants took part in interviews to share their experiences. Now, researchers reported on outcomes from those caregiver interviews.
In all, their study covered interviews with caregivers of 33 patients — 26 older girls and young women who participated in the LILAC studies, and younger children who participated in DAFFODIL.
The caregivers first were asked what aspects of Rett syndrome made life most challenging for their charge. The most common response was that difficulty communicating led to the most problems day to day.
“I’d say communication [has the most impact] because a lot of it is just figuring out how we can best help her or what she’s needing or wanting,” one caregiver said.
Some carers also noted that difficulty using their hands caused a lot of day-to-day issues for their charges. One caregiver said that, due to problems with hand function, the patient “ended up losing the ability to feed herself, the ability to play with a lot of her toys, holding a toothbrush to brush her teeth.”
All but 1 carer described meaningful improvements with Daybue
When asked about the improvements that were seen after Daybue treatment, many of the caregivers reported that their charge was having an easier time communicating and expressing wants and needs, which was making life easier both for the child and for the caregivers.
“Her communication is so much better. So, she actually is able to let me know good things, bad things, anything,” one caregiver said. “She’s just able to communicate, finally. She’s got so much to say.”
For us it was just, my gosh, this is what her voice sounds like. … We’d never heard her voice before.
All but one of the caregivers reported that Daybue-related improvements were meaningful.
“For us it was just, my gosh, this is what her voice sounds like,” another caregiver said. “We’d never heard her voice before. It’s totally different than what sounds sound like than when you actually [hear] a word.”
Several caregivers also said that their charges were having an easier time using their hands and moving around, helping them gain a newfound sense of independence. For example, one caregiver said that better hand use meant that the child “doesn’t have to depend on me all the time. She doesn’t have to wait for me to just give her things. She could just go and grab it herself now.”
Other caregivers noted that better motor function helped keep their child safe.
“She’s falling less, and when she does fall, it’s safer,” one caregiver said. “For a point in time when she would fall, she would just kind of fall with her entire body straight. She would like hit her head. Where now, it’s more of a controlled, she’ll bend, she’ll put her hands out, she’s not falling like right on her head. So that safety piece of course is huge.”
Overall, almost all of the caregivers said that the child they took care of was satisfied with Daybue treatment. Reasons for not being satisfied, among the few children in this category, included disliking the taste of the medication and the treatment’s side effects. Common side effects of Daybue include diarrhea and vomiting.
One caregiver summed up the positive impact of the trial for one participant: “Unexplainably meaningful. [Treatment] really changed the course of everything, really, as far as what [the child] was able to do.”
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