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Hew episode is out and it's a good one! #CDKL5 open.spotify.com/episode/3usU...

#RareDiseaseDay #CDKL5

Episode 35: AI Chat with Cure5 Co-Founder Andreas Borg

New episode of the podcast is out! Listen on Spotify, Apple Podcasts, & YouTube! #CDKL5 open.spotify.com/episode/7vbY...

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February is #RareDiseaseMonth! While #epilepsy itself is not rare (affecting 1 in 26 people), there are hundreds of rare Epilepsies (like #Dravet Syndrome, #LGS, or #CDKL5) that require specialized care and unique research. #EpilepsyAwareness

Episode 33: Let’s Talk About Tube Feeding

✨🎙 New: Episode 33, Let's Talk About Tube Feeding

Adequate nutrition and hydration are the foundation of health. Unfortunately, it can be difficult for people living with #CDKL5 to take in all that they need to be well nourished or to maintain their growth curve. open.spotify.com/episode/5FaZ...

Episode 31: Let’s Ring Out 2025

Happy New Year! New episode of the #CDKL5 in Color podcast drops on Saturday! Catch up on any you have missed so far! open.spotify.com/show/4oxNoHl...

UCB Reveals Promising Phase 3 Study Results for Fenfluramine in CDKL5 Deficiency Disorder at AES 2025 At the American Epilepsy Society meeting, UCB showcased phase 3 study results that demonstrate fenfluramine's effectiveness in reducing seizures in CDKL5 Deficiency Disorder.

UCB Reveals Promising Phase 3 Study Results for Fenfluramine in CDKL5 Deficiency Disorder at AES 2025 #USA #Atlanta #UCB #CDKL5 #fenfluramine

ICCRN work in print! Many thanks to the #CDKL5 families who have participated with these wonderful researchers!

Episode 30: Kara’s Life with Bennett (age 9)

New episode is out! Meet Kara and her 9 year old, Bennett! #CDKL5 open.spotify.com/episode/4PVX...

UCB Presents Groundbreaking Research at American Epilepsy Society Annual Meeting in 2025 UCB showcases significant research advancements in epilepsy care at the AES Annual Meeting 2025, including promising results for CDKL5 deficiency disorder treatment.

UCB Presents Groundbreaking Research at American Epilepsy Society Annual Meeting in 2025 #United_States #Atlanta #UCB #Epilepsy #CDKL5

www.citystgeorges.ac.uk/__data/asset...

www.citystgeorges.ac.uk/prospective-... @citystgeorges.bsky.social #CDKL5

Episode 25: Let's Talk About AAC by CDKL5 in Color Episode 25: Let’s Talk About AACWhile most people living with CDKL5 Deficiency Disorder are non-speaking, this does not mean they cannot communicate! AAC or Augmentative and Alternative Communication ...

Hew episode is out! #CDKL5 spotifycreators-web.app.link/e/SZQnK55zaXb

Excitatory cortical neurons from CDKL5 deficiency disorder patient-derived organoids show early hyperexcitability not identified in neurogenin2 induced neurons CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy resulting from variants in cyclin-dependent kinase-like 5 (CDKL5)…

Thrilled to share our latest #research efforts on #CDKL5 deficiency and #stemcell #diseasemodeling. This critical work took a tremendous team effort! #autism #epilepsy #intellectualdisability #raredisorders

@sahinm.bsky.social

@delaneywood.bsky.social

www.sciencedirect.com/science/arti...

🌟 Mark your calendars for Sept 18-19! The CDKL5 Symposium at CUHK Medical Center will gather experts and families to discuss CDKL5 Deficiency Disorder.

Let’s work together to share knowledge and drive progress! 🎉

#CDKL5

Want to hear #CDKL5 stories? Listen to the CDKL5 in Color podcast for free on Spotify, Apple Podcasts, & YouTube!

We are taking a summer break from releasing new episodes. See you in September for more #CDKL5 stories! Be sure to catch up on any episodes you have missed while we are away!

UCB Reports Promising Phase 3 Results for Fenfluramine in CDKL5 Deficiency Disorder and Future Plans UCB has announced encouraging Phase 3 trial results for fenfluramine in treating CDKL5 deficiency disorder, highlighting their commitment to innovation in this area.

UCB Reports Promising Phase 3 Results for Fenfluramine in CDKL5 Deficiency Disorder and Future Plans #United_States #Atlanta #UCB #CDKL5 #fenfluramine

Episode 21: How has this diagnosis changed you? CDKL5 in Color · Episode

June is #CDKL5 awareness month and today we released episode 4 of 5 in our special series! Have a listen: open.spotify.com/episode/0vrI...

CDKL5 in Color Podcast · Marissa Bishop · On the CDKL5 in Color podcast you'll hear co-hosts Marissa & Amanda share lessons learned along the way as parent caregivers to children living with CDKL5 Deficiency Disorde...

Have you listened to any of our June #CDKL5 awareness month episodes yet? They are the green ones! Have a listen for free on Spotify open.spotify.com/show/4oxNoHl...

Today is World #CDKL5 Day and we invite you to pick an episode of the CDKL5 in Color podcast and have a listen. Learn from our community. We are here, waiting on a healthier future for our children. www.cdkl5incolor.com

CDKL5 Awareness Day 2025 💚💚💚
#CDKL5 #LimeGreenForCDKL5
#raredisease

Today is #CDKL5 Awareness Day. Gain access to curated CDKL5 variant insights to support early diagnosis in #Mastermind Genomic Intelligence Platform today:
🔗 mastermind.genomenon.com?utm_source=b...

Do you know someone with #CDKL5 / #CDD?

#raredisease #chronicillness #disability #healthcare

Changes in a #gene called #CDKL5 cause a serious #neurodevelopmental disorder that affects about 1 in every 40-60k births. Children with this condition often have seizures very early in life, along with sleep problems, movement difficulties, autistic features, and intellectual disabilities.
🧠🧠🧠

CDD is about #MoreThanSeizures, it’s about daily challenges and interruptions to family life, it’s about skipping lunch to provide care.

On World #CDKL5 Day, hear from Karen Utley, President & Co-Founder, International Foundation for CDKL5 Research, about her experiences.

#CDKL5awareness

Caregivers’ Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online Survey Background: Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and treatments focus mainly on symptom management to improve quality of life. Objective: The aim of this study was to better understand the burden of CDD based on family caregivers’ perceptions. Methods: The study was a cross-sectional, web-based survey comprising 40 questions for caregivers of patients with CDD and focusing on sociodemographic and medical characteristics, disease burden, unmet needs, treatments, and support. An adapted version of the EQ-5D-5L instrument was included to measure patients’ health-related quality of life as perceived by their caregivers. Results: A total of 132 caregivers, mostly from western parts of Europe, responded. The median patient age was 7.6 (IQR 2.9-12.2) years. Seizure onset occurred early, with the median onset at 2.0 (IQR 1.0-3.0) months of age. The median age at diagnosis was 1.2 (IQR 0.6-4.0) years. Epilepsy (123/132, 93.2%) and limited communication skills (111/132, 84.1%) were the most commonly reported symptoms. The highest number of different types of symptoms was reported for patients aged 5-9 years, with a median of 9.0 (IQR 7.5-10.0) symptoms. Most patients with epilepsy experienced daily seizures (81/123, 65.9%), and nearly all (119/123, 96.7%) were on antiseizure medications. A minority was on a ketogenic diet (21/123, 17.1%) or underwent vagus nerve stimulation (14/123, 11.4%). The care received was multidisciplinary. Compared to younger patients, adults had fewer medical appointments and a smaller variety of health care professionals in their care team. The EQ-5D-5L, adapted for caregivers, indicated low health-related quality of life for patients, with a median global index value of 0.18 (IQR 0.11-0.32). The most severe consequences of CDD on patients’ daily lives were reported for mobility (88/132, 66.7%), self-care (120/132, 90.9%), and everyday activities (103/132, 78.0%). Caregiver burden was also substantial, with all life aspects reportedly impacted by CDD, including professional life and financial resources (median impact ratings of 9.0/10 and 7.0/10, respectively). Access to support and care varied depending on location. Caregivers outside Europe reported a longer time between the first seizure and diagnosis (26.5, IQR 3.2-47.0 months) compared to European caregivers (11.0, IQR 5.0-45.0 months). They also reported a higher impact of CDD on their financial resources (rating of 10/10) compared to European caregivers (rating of 6/10) and greater challenges in covering costs. Conclusions: The study findings provide valuable insights on symptoms and disease burden related to CDD. This burden was quantitatively characterized with the EQ-5D-5L for the first time and was perceived as substantial by family caregivers. Discrepancies between geographic regions and age groups were highlighted, especially regarding available support and access to resources and care.

JMIR Formative Res: Caregivers’ Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online Survey #CDKL5 #CDD #GeneticDisorders #EpilepsyAwareness #Caregivers

June is #CDKL5 awareness month! youtu.be/yujrZPijW2c?...

💚 June is #CDKL5 awareness month youtu.be/yujrZPijW2c

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We are working on our next quarterly newsletter all about #CDKL5 awareness month (June)! Did you read our first newsletter? Check it out here: preview.mailerlite.io/preview/1263...

Episode 16: Let’s Talk About Acceptance CDKL5 in Color · Episode

New podcast episode is out and we are talking about acceptance. Happy Mother's Day to all our fellow #CDKL5 mamas - you make a difference every single day. open.spotify.com/episode/1xG5...