Prader-Willi Syndrome Research - Vanderbilt University

11/14/2024

New way for people with PWS to tell us about how hunger affects their life. Please help us

11/13/2023

Acadia is bringing Carbetocin back!

“We recently met with the FDA and reached alignment to further evaluate the 3.2 milligram dose of ACP-101 in a pivotal Phase 3 study,” said Doug Williamson, Acadia’s Executive Vice President, Head of Research and Development. Top-line results showed that ACP-101 was safe and well-tolerated and demonstrated nominally statistically significant efficacy at the 3.2 mg dose. “If positive, we plan to promptly submit a new drug application for the treatment of hyperphagia in PWS to the FDA.”

ACP-101 is an investigational drug in the form of an intranasal formulation of carbetocin being developed for the treatment of hyperphagia in Prader-Willi syndrome (PWS). Carbetocin has improved drug qualities relative to oxytocin, including an extended duration of action and greater specificity for the oxytocin receptors compared to vasopressin receptors which could provide meaningful efficacy with an attractive safety profile in patients with PWS. For the treatment of Prader-Willi syndrome specifically, a central nervous system disorder, an intranasal formulation of carbetocin was developed, which provides direct delivery of the drug to the brain, greatly reducing systemic exposure and the potential for side effects. ACP-101 has been granted Orphan Drug, Fast Track, and Rare Pediatric Disease designations by the FDA.

Vanderbilt has been selected as a site for this study and we are ramping up to get this study started!! We are so excited about this development as we got to see firsthand how it helped patients and their families. Vanderbilt has seen more than 50 patients with PWS in the prior studies and looking forward to working with families to see if they qualify for the new study.

For more information go to www.compassPWS.com
Reach out to Elizabeth.roof@vanderbilt.edu if you have questions

07/27/2023

Coming July 27-28 in NASHVILLE

Partnership with CombinedBrain Will Establish Biorepository for PWS & SYS (fpwr.org)

A few important details:

1.. They will ask you to provide a copy of your child’s genetic report
2. They will ask you to set up a CRID (Clinical Research ID): The CRID - Unique Universal Clinical Research ID
3. You will be asked to complete some basic surveys (demographics survey, seizure history survey and the Vineland Adaptive Behavior Scale)
4. Location: Sonesta Hotel Nashville Airport, 600 Marriott Dr., Nashville, TN 37214

Families can show up on the day of event to complete registration and consents. Registration and sample collection is estimated to take 30-60 minutes (advise setting up CRID before arrival). They do not offer appointment times and you can go to the event anytime during their scheduled collection times.

We are also seeking control samples from siblings so families can consent for unaffected siblings to provide a sample.

07/20/2023

Acadia is bringing Carbetocin back!

“We recently met with the FDA and reached alignment to further evaluate the 3.2 milligram dose of ACP-101 in a pivotal Phase 3 study,” said Doug Williamson, Acadia’s Executive Vice President, Head of Research and Development. Top-line results showed that ACP-101 was safe and well-tolerated and demonstrated nominally statistically significant efficacy at the 3.2 mg dose. “If positive, we plan to promptly submit a new drug application for the treatment of hyperphagia in PWS to the FDA.”
ACP-101 is an investigational drug in the form of an intranasal formulation of carbetocin being developed for the treatment of hyperphagia in Prader-Willi syndrome (PWS). Carbetocin has improved drug qualities relative to oxytocin, including an extended duration of action and greater specificity for the oxytocin receptors compared to vasopressin receptors which could provide meaningful efficacy with an attractive safety profile in patients with PWS. For the treatment of Prader-Willi syndrome specifically, a central nervous system disorder, an intranasal formulation of carbetocin was developed, which provides direct delivery of the drug to the brain, greatly reducing systemic exposure and the potential for side effects. ACP-101 has been granted Orphan Drug, Fast Track, and Rare Pediatric Disease designations by the FDA.
Vanderbilt has been selected as a site for this study and we are ramping up to get this study started!! We are so excited about this development as we got to see firsthand how it helped patients and their families. Vanderbilt has seen more than 50 patients with PWS in the prior studies and looking forward to working with families to see if they qualify for the new study. Reach out to Elizabeth.roof@vanderbilt.edu if you have questions.

03/29/2023

Now that we've wrapped up our ConSynance study, we need a little more PWS community joy in our lives. If you have anything positive to share - birthdays, milestones, graduations, accomplishments, etc - please fill out this (new and improved) form! You can remain anonymous or you can publicly brag on your loved one, whatever makes you most comfortable. We can't wait to hear the amazing things that are happening in the PWS community!

We want to hear about all the cool things your loved one with PWS is doing - anything from first steps to graduations, overcoming health battles to fundraising to help others. Maybe they are artists who want to show off their work, or maybe they just finished a really great book they want to share w...

03/02/2023

Some research reading for your Wednesday! Check out these articles from PWS News:

https://praderwillinews.com/news/starting-growth-hormone-early-tied-better-body-size-outcomes/

https://praderwillinews.com/news/weight-gain-overeating-pws-children-linked-high-insulin-levels/

Children with Prader-Willi syndrome who start on growth hormones before age 1 tend to have more normal growth parameters, a study reports.

02/15/2023

What’s sweeter than candy on Valentine’s Day? Finishing a phase 1 trial in 2 months with 10 of our favorite people! And what a great way to wrap up with Emma and Danielle. Lots of laughs, new friendships, and great data collection! Love these folks.

02/02/2023

We had another amazing week in our ConSynance study with Hudson, Ally, and Chelsea. Every one of these participants has given us a run for our puzzle money!

01/19/2023

We have some exciting news to share here at Vanderbilt! Thanks to FPWR for this amazing opportunity to learn more about and from our friends with PWS.

Armed with a two-year, $141,444 grant from the Foundation for Prader-Willi Research, Professor of Psychology and Human Development Elisabeth Dykens is developing the first psychometrically sound self-report survey of hyperphagia for people with Prader-Willi syndrome.

01/12/2023

We took a break from data collection for puzzle time with some of our favorite people... and then they finished it without us! Check out the puzzling expertise of Joe, Justin, and Kathryn!

01/05/2023

Happy New Year! As we head into 2023, we would like to share more about YOU and YOUR loved ones! If you have anything positive to share - birthday celebrations, developmental milestones, graduations, accomplishments, or anything else that would spread some joy - please fill out this form! You can remain anonymous or you can publicly brag on your loved one, whatever makes you most comfortable. We can't wait to hear the amazing things that are happening in the PWS community!

#2023

12/29/2022

Parents in the PWS community raise awesome kids both with and without PWS. Read Austin's story of selling jam to raise money for PWSA in honor of his sister, Lola, who has PWS.

https://www.pwsausa.org/spreading-the-love-for-pws/

PWS sibling Austin, 14, has been using his new entrepreneurial skills to raise money for PWSA | USA and awareness for our rare disease community in honor of his sister Lola. How? By making and