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New on Our YouTube Channel!
We are pleased to share this video summary of recent research on how people with CDKL5 deficiency disorder communicate.The short video features Dr. Jenny Downs, head of Child Disability Research at Telethon Kids Institute in Australia, and Mel, mom to Annabelle who lives with CDD.
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A Reminder for Longitudinal Study Families
Please make sure you are keeping up with the study timelines for submitting surveys and videos.
Questions about the video portion of the study? Please reach out to cdkl5@telethonkids.org.au.
General questions? Please ask your study coordinator from your Center of Excellence site.
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Thank You for Helping Us MOVE!
We had some BIG goals in June for CDKL5 Awareness Month and our CDKL5 community EXCEEDED them!
GOAL - 18,000 miles moved | REALITY - 53,984.21 miles!
GOAL - $100,000 raised | REALITY - $122,307!
Thank you all for the participation, enthusiasm, and support that made 2023 our best Move CDKL5 Forward event yet!
Please help us celebrate the powerhouse fundraisers and movers who went above and beyond for us this month!
Team Grafton - $12,674 raised!
Mimi's Pit Crew - $12,280 raised!
Charlotte's Walk for a Cure - $11,705 raised!
Moving Mountains for Miriam - $10,360 raised!
Lina's Light - 14,480.25 miles moved!
Team Ezra Marie - 10,063.8 miles moved!
Riley's Warriors - $5,157.9 miles moved!
Team Norah - 3,576.65 miles moved!
Jackson Laniado GO! - 3,132.48 miles moved!
Team Orange & Green - 3,131.78 miles moved!
Special thank you to Team Marinus for moving over 1,500 miles with us and to CDKL5 mama, Melissa Moore, who walked every day in memory of loved ones we have lost to CDKL5. Her tribute walks are a special part of this annual event.
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Clinical Trial Opportunity
The US English informational website for The GEMZ Study in CDKL5 Deficiency Disorder (CDD) is now live.
You can view it at https://cddstudy.com.
The GEMZ Study is being conducted to learn more about patients with CDKL5 deficiency disorder (CDD) and to find out if the study medication fenfluramine hydrochloride can reduce the seizures in patients who have a confirmed mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene which is thought to be causing their disease. This study is open to patients between the ages of 2 and 35 who have been diagnosed with CDD using both a genetic test and through a clinical diagnosis by a doctor. |
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IFCR Invited to Ribbon-Cutting Celebration - Our board president, Karen, recently traveled to speak at the ribbon-cutting of Ultragenyx's new gene therapy manufacturing facility. She shares her reflections on this special occasion. Read it HERE.
CDKL5 Publication Breakdown: Epileptic Spasms in CDD - Our Science Director, Heidi, summarizes the recent publication Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapies. Read it HERE. |
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International Medical Course a Success!
On June 24th la Clínica Integral de Epilepsia y Neurodesarrollo in collaboration with CDKL5 Spain and the IFCR hosted Spanish-speaking clinicians and professionals for a course on CDKL5 deficiency disorder.
Dr. Elia Pestana-Knight who leads our CDKL5 Center of Excellence in Cleveland, Ohio was a featured presenter.
The event was a success! Over 50 professionals in Spain and Latin America expanded their knowledge of CDD and the latest in clinical care. This is important information that will have a positive impact on families living in Spanish-speaking countries. |
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We know how hard life with CDKL5 can be and we are here for you whenever you need us.
Would you like to speak with a fellow CDKL5 parent who knows what you're facing? We have peer support volunteers who are available to offer a listening ear or resources that can help. Email FSR@CDKL5.com.
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Enrolling CDKL5 Clinical Trials
Did you know? Our website is a great place to learn what clinical trials are enrolling for CDKL5!
There are opportunities for interventional trials as well as clinical research, including ways to participate in CDKL5 research from your home, anywhere in the world!
This information and even more can be found on our website. Check back frequently for updates as new opportunities emerge!
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Have you joined "Connect CDKL5"?
Connect families receive direct communication about clinical trial opportunities for CDKL5 and other important information important for families. Join today!
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