Is highly purified cannabidiol a treatment opportunity for drug‐resistant epilepsy in subjects with typical Rett syndrome and <scp>CDKL5</scp> deficiency disorder?
This study explored the use of highly purified Cannabidiol (CBD, Epidiolex®) as an add-on therapy for individuals with drug-resistant epilepsy due to Rett Syndrome (RTT) or CDKL5 Deficiency Disorder (CDD). Twenty-seven participants received CBD alongside their usual ASMs. After a median treatment duration of 14 months, 66.6% experienced fewer seizures, with some showing over 75% reduction. Side effects were generally mild, mainly sleepiness or irritability. Notably, caregivers reported improvements in attention, responsiveness, sleep, and motor function. While results were not statistically significant, they suggest CBD may benefit seizure control and quality of life in RTT and CDD patients.
Authors
- Nicola Pietrafusa (ORCID: https://orcid.org/0000-0003-2446-796X)
- Enrico Alfei (ORCID: https://orcid.org/0000-0001-6737-5163)
- Giulia Prato (ORCID: https://orcid.org/0000-0001-6634-2474)
- Maria Paola Canevini (ORCID: https://orcid.org/0000-0002-2292-4015)
- Jacopo Favaro (ORCID: https://orcid.org/0000-0002-4340-2398)
- Alberto Danieli (ORCID: https://orcid.org/0000-0002-8390-5897)
- Aglaia Vignoli (ORCID: https://orcid.org/0000-0003-4638-4663)
- Miriam Nella Savini (ORCID: https://orcid.org/0000-0002-4458-6117)
- Emilia Ricci (ORCID: https://orcid.org/0000-0002-3405-6454)
- Irene Bagnasco
- Ilaria Viganò (ORCID: https://orcid.org/0009-0003-7850-7119)
- Davide Paolo Bernasconi (ORCID: https://orcid.org/0000-0001-8771-5428)
- Lino Nobili (ORCID: https://orcid.org/0000-0001-9317-5405)
- Alessandro Ascani Orsini (ORCID: https://orcid.org/0000-0001-5256-6573)
- Nicola Specchio (ORCID: https://orcid.org/0000-0002-8120-0287)
- Francesca Felicia Operto (ORCID: https://orcid.org/0000-0002-2444-8761)
- Massimiliano Celario (ORCID: https://orcid.org/0009-0008-4408-8792)
- Valentina De Giorgis (ORCID: https://orcid.org/0000-0002-5828-7070)
- Paolo Bonanni (ORCID: https://orcid.org/0000-0002-9448-9059)
- Stefano Sartori (ORCID: https://orcid.org/0000-0002-0012-6848)
- Sara Matricardi (ORCID: https://orcid.org/0000-0002-4403-6342)
- Luca Manfredini
- Giulia Balletto
Institutions
- University of Padua (IT)
- University of Milan (IT)
- University of Pavia (IT)
- Istituto Giannina Gaslini (IT)
- Magna Graecia University (IT)
- University of Chieti-Pescara (IT)
- Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda (IT)
- Bambino Gesù Children's Hospital (IT)
- Ospedale Martini (IT)
- Ospedale dei Bambini Vittore Buzzi (IT)
- European Hospital (IT)
- IRCCS Eugenio Medea (IT)
- Azienda Ospedaliera Universitaria Pisana (IT)
- University of Milano-Bicocca (IT)
- KU Leuven (BE)
Publication Details
- Journal
- Epilepsia Open
- Published
- 2025-06-21
- DOI
- https://doi.org/10.1002/epi4.70078
- Citations
- 3
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 5.45
Funders
- Ministero della Salute
- Ministero dell'Università e della Ricerca