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- Results of KIK-AS Angelman gene therapy study due 1st half of year March 6, 2024The Phase 1/2 KIK-AS clinical trial, which is testing the experimental genetic therapy GTX-102 in children with Angelman syndrome, has finished enrolling patients. With 74 enrolled, including 53 in dose-expansion groups, the therapy’s developer Ultragenyx Pharmaceutical said results will be available in the next few months. “With completion of enrollment in the Phase 1/2 trial, we […]
- Shared mission to rally support for International Angelman Day February 7, 2024Supporters globally are poised for International Angelman Day (IAD), set aside annually on Feb. 15, to call attention to Angelman syndrome and the 500,000 people globally estimated to be affected by the complex neurological disorder. In addition to spreading awareness about Angelman, the event seeks to unite and mobilize Angelman families and organizations around a shared […]
- Practicing fine motor skills in Angelman, a spoonful at a time February 1, 2024As Juliana, my 13-year-old daughter with Angelman syndrome, gets older, improving her skills stays at the forefront of our daily living. We work on toileting, tooth brushing, and stair climbing. Any task that practices her fine motor skills is also on the list. One of those ongoing skills is using a spoon to feed herself. […]
- A strange sound may mean my Angel’s communication is improving January 4, 2024For the last few months, an odd sound has been emerging from my daughter’s room. My 13-year-old Angel, Juliana, is stuck making an “ugh” sound. The sound is annoying, and it’s left me baffled about whether we’re facing regression or progression with her communication. It’s hard to tell which it is, but because I lean […]
- Device for home monitoring of sleep with Angelman’s seen as effective January 3, 2024A device to remotely monitor sleep in Angelman syndrome (AS) patients, called EarlySense, was found to be feasible for characterizing their sleep patterns in an at-home setting, according to a recent report. The no-contact device recognized sleep patterns similar to those recorded with the gold-standard polysomnography (PSG) test, which involves placing multiple sensors on a person’s […]
- FAST, UPenn team to advance gene therapy candidate for Angelman December 6, 2023The Foundation for Angelman Syndrome Therapeutics (FAST) has teamed up with the University of Pennsylvania to develop an investigational gene therapy for Angelman syndrome. The nonprofit has sponsored preclinical research at the Gene Therapy Program at the University of Pennsylvania since 2017 to develop a gene therapy for Angelman syndrome that can be delivered to […]
- Paying attention to self-care and well-being is key for caregivers November 30, 2023When you’re a caregiver to someone with Angelman syndrome, making time for yourself seems like an impossibility. However, I consider this necessity an important part of my caregiver responsibilities. After all, if I don’t look out for my own well-being, I’ll burn out. And that will make the job of taking care of my 13-year-old […]
- I’ve discovered a better way to deal with Angelman outbursts November 16, 2023I used to think that my 13-year-old Angel, Juliana, screamed a lot because she lacked understanding. There might be some truth to that, but something else is at play. Many of her outbursts are good old-fashioned tantrums that she’s performing to get her way. But I’ve started to call her bluff and stand firm when […]
- I’m sure my Angel understands more than can be proven November 9, 2023“Does she understand?” a friend asked me as Juliana watched a show on her iPad. It’s not uncommon for people to ask me if Juliana, my 13-year-old daughter with Angelman syndrome, understands what’s going on around her. Comprehension is a tricky topic when you’re dealing with a neurogenic disorder like Angelman. “She may not get […]
- Why housecleaning is my last priority as a caregiver November 2, 2023A houseguest once passed her finger along a shelf in my house and asked, “Don’t you dust?” I was slightly offended, but didn’t overreact. I just briefly explained that I was a little busy. There are a lot of activities in our house that must be completed to ensure the well-being of Juliana, my 13-year-old […]