A European pilot study in Dravet Syndrome to delineate what really matters for the patients and families
Open accessAbstract
We aimed to identify caregivers' opinions on the outcome measures that matter in clinical trials in individuals with Dravet syndrome (DS). We conducted a prospective European multicenter study based on an 11 closed questions survey developed by the French reference center for rare epilepsies and DS patients’ advocacy groups. Items included questions on seizures and daily life outcomes that a clinical trial on a therapy for individuals with DS should target. Statistical analyses were performed to evaluate the impact of the country of residence and of the patients’ age. The survey was answered by 153 caregivers (68%: France, 28%: Germany, and 24%: Italy) off individuals with DS. Individuals with DS included 86 males (mean age of 11.4 [interquartile: 7‐20.4] years). Families ranked as important almost all the items proposed. However, items related to daily life had the highest rank in all three countries compared to items about seizures ( P = 0.02). Increase in individuals’ age was associated with a higher age at diagnosis (ρ = 0.26, P = 0.02), and a lower impact of seizure duration (ρ = −0.25, P = 0.005) and on the need of hospital referral (ρ = −0.26, P = 0.005). These data can help tailor patient‐centered outcome measures in future clinical and real‐life trials for DS.
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Caregivers emphasise the importance of sleep, communication, behaviour, daily activities, motor skills and language problems, which often eclipse seizures in importance as the individual ages.
“Caregivers emphasise the importance of sleep, communication, behaviour, daily activities, motor skills and language problems, which often eclipse seizures in importance as the individual ages 219 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [219]
The Results report that caregivers rated communication, sleep, behavior, daily activities, and motor skills more highly overall than seizure-related items; the Discussion also names language as a priority beyond seizure control. The age-related claim is broader than the findings: only seizure duration and ER/ICU referral declined in importance with age, while seizure frequency and rescue-treatment priorities remained stable. (LLM, conf=0.86)
Experimental — accuracy not yet measuredClassification of DEEs into syndromes has enabled condition-specific patient advocacy groups to form, facilitating research participation of carers.
“Classification of DEEs into syndromes has enabled condition-specific patient advocacy groups to form, facilitating research participation of carers 215,219 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [219]
The Methods (Survey development and Participants; page unavailable) name three Dravet syndrome patient advocacy groups and describe recruiting caregivers through association meetings and an online survey. This supports the groups’ role in carers’ research participation, but the paper does not say that classifying DEEs into syndromes enabled those groups to form. (LLM, conf=0.86)
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- Authors
- Chemaly, N., Kuchenbuch, M., Teng, T., Marie, E., D'Onofrio, G., Lo Barco, T., Brambilla, I., Flege, S., Hallet, A., & Nabbout, R.
- Affiliations
- Department of Pediatric Neurology Reference Centre for Rare Epilepsies Hôpital Necker‐Enfants Malades APHP Member of ERN EpiCARE Paris France
- Hôpital Necker-Enfants Malades (FR)
- Alliance Syndrome Dravet Malesherbes France
- Dravet Italia Onlus Affi Italy
- Dravet‐Syndrom e.V. Markkleeberg Germany
- Corresponding author
- Nabbout, Rima
- Venue
- Epilepsia Open
- Publisher
- Wiley
- Published
- 2023-05-17
- Volume
- 9
- Issue
- 1
- Pages
- 388-396
- ISSN
- 2470-9239 (ISSN-L)
- PMC
- PMC10839355
- OpenAlex
- W3212775872
- Cited by
- 20
- References
- 39
- Citations by year
- 2026: 7 · 2025: 1 · 2024: 7 · 2023: 3 · 2022: 2
- FWCI
- 2.13
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Epilepsia Open (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- Funders
- Fondation Bettencourt Schueller
- Institut National de la Santé et de la Recherche Médicale (ANR‐10‐IAHU‐01)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Health Sciences › Health Professions › General Health Professions › Mental Health and Patient Involvement
- Social Sciences › Psychology › Clinical Psychology › Family and Disability Support Research
- Keywords
- Dravet syndrome, patient-centered outcome measures, caregiver perspectives, clinical trial endpoints, seizure outcome, age at diagnosis, seizure duration, hospital referral, rare epilepsies
- MeSH terms
- Adolescent, Child, Clinical Trials as Topic, Epilepsies, Myoclonic, Female, Humans, Male, Pilot Projects, Prospective Studies, Quality of Life, Seizures, Young Adult
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