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Developing a Tailored Neuropsychological Rehabilitation for Sturge-Weber Syndrome (NPS-SWS)

15 giugno 2026 aggiornato da: Laura Piccardi, University of Roma La Sapienza

Exploring the Neuropsychological Profile of Sturge-Weber Syndrome for Developing Tailored Rehabilitation.

The goal of this observational study is to learn about the neuropsychological profile of Sturge-Weber Syndrome (SWS) in children and adults with this rare neurocutaneous condition. SWS affects approximately 1 in 50,000 live births and is characterized by brain blood vessel malformations, facial port-wine stains, and abnormal vascularization in the brain, skin, and eyes. Patients are at high risk for epileptic seizures, stroke-like episodes, glaucoma, and motor and cognitive difficulties. The main questions it aims to answer are:

  • What are the specific cognitive strengths and weaknesses in visuospatial abilities, working memory, and executive functions in individuals with SWS?
  • What is the detailed neuropsychological profile of patients with SWS who do not have intellectual disability?
  • Are there different cognitive-behavioral phenotypes between patients with and without the characteristic facial port-wine stain (PWS)?
  • How do clinical variables such as seizure history and brain involvement patterns relate to specific cognitive deficits?

Participants will undergo a comprehensive neuropsychological assessment battery that includes:

  • Intellectual functioning tests (K-BIT2) to measure verbal and non-verbal intelligence
  • Executive function evaluation (BRIEF2) assessing behavioral regulation, emotional regulation, and cognitive regulation
  • Language assessment including receptive vocabulary (PPVT) and grammatical comprehension (TCGB-2)
  • Visuospatial skills testing (Beery-Buktenica VMI) evaluating visual-motor integration
  • Working memory assessment (WISC-IV/WAIS-IV digit span and spatial span subtests)
  • Learning abilities evaluation including reading (Battery for the Assessment of - Developmental Dyslexia and Dysorthography), writing, and mathematical skills (ABCA test)
  • Additional assessments for attention, verbal memory, and spatial memory as needed

The study will recruit SWS patients through collaboration with patient associations and Telethon support. Participants will continue their standard medical care throughout the study, and all medications and therapies will be recorded. The neuropsychological testing will be conducted at IRCCS San Raffaele and Sapienza University Department of Psychology.

The study aims to identify a cognitive-behavioral phenotype for SWS, develop evidence-based guidelines for neuropsychological monitoring, create personalized recommendations for educational adaptations, produce training materials for healthcare professionals and educators, and establish a multidisciplinary framework for supporting individuals with SWS. This research addresses a critical knowledge gap, as previous studies have focused mainly on general intellectual functioning and the prevalence of intellectual disability and language disorders, without providing detailed neuropsychological profiles, particularly for patients without intellectual disability.

Panoramica dello studio

Stato

Reclutamento

Condizioni

Tipo di studio

Osservativo

Iscrizione (Stimato)

40

Contatti e Sedi

Questa sezione fornisce i recapiti di coloro che conducono lo studio e informazioni su dove viene condotto lo studio.

Contatto studio

Luoghi di studio

  • Italia
    • Roma
      • Roma, Roma, Italia, 00185
        • Reclutamento
        • Department of Psychology University of Rome
        • Contatto:

Criteri di partecipazione

I ricercatori cercano persone che corrispondano a una certa descrizione, chiamata criteri di ammissibilità. Alcuni esempi di questi criteri sono le condizioni generali di salute di una persona o trattamenti precedenti.

Criteri di ammissibilità

Età idonea allo studio

  • Bambino
  • Adulto
  • Adulto più anziano

Accetta volontari sani

No

Metodo di campionamento

Campione non probabilistico

Popolazione di studio

Participants will be recruited through a nationwide network in Italy, primarily through collaboration with the Italian Sturge-Weber Syndrome patient association and support from Fondazione Telethon. The study will be conducted at two primary sites: IRCCS San Raffaele Hospital in Milan and the Department of Psychology at Sapienza University of Rome. Participants include individuals already receiving clinical care for Sturge-Weber Syndrome at specialized neurology and dermatology centers across Italy, as well as individuals identified through patient advocacy organizations. The study aims to recruit a representative sample of the Italian SWS population, including both pediatric patients (children and adolescents) and adults. Given the rarity of SWS (incidence of approximately 0.19 per 100,000 individuals per year), recruitment will occur over an extended period to achieve the target sample size of approximately 40 participants. Outreach will include informational materials distributed

Descrizione

Inclusion Criteria:

  • Confirmed diagnosis of Sturge-Weber Syndrome (SWS) of any type (Type I, Type II, or Type III) based on clinical and/or neuroimaging findings
  • Age 2 years or older at the time of enrollment (children, adolescents, and adults are eligible)
  • Ability to cooperate with neuropsychological testing procedures
  • Willingness to complete all study assessments within the designated timeframe

Exclusion Criteria:

  • Absence of confirmed Sturge-Weber Syndrome (SWS)
  • Age younger than 2 years at the time of enrollment
  • Inability to cooperate with neuropsychological testing procedures even with accommodations or modifications

Piano di studio

Questa sezione fornisce i dettagli del piano di studio, compreso il modo in cui lo studio è progettato e ciò che lo studio sta misurando.

Come è strutturato lo studio?

Dettagli di progettazione

Cosa sta misurando lo studio?

Misure di risultato primarie

Misura del risultato
Misura Descrizione
Lasso di tempo
1. Composite neuropsychological profile across visuospatial, working memory, and executive function domains
Lasso di tempo: At baseline assessment

Assessment of previously uncharacterized cognitive domains in Sturge-Weber Syndrome using three standardized measures administered at baseline: (1) Beery-Buktenica VMI for visuospatial integration; (2) WISC-IV/WAIS-IV Working Memory Index for working memory capacity; (3) BRIEF2 Global Executive Composite for executive functioning. Each measure is scored according to its own normative standard (standard scores Mean=100 SD=15, or T-scores Mean=50 SD=10), then converted to a uniform z-score scale to allow cross-domain comparison and aggregation into a single composite profile score (mean z-score across the three domains). Performance on the composite is classified as impaired (z < -1.5), borderline (z between -1.5 and -1.0), average (z between -1.0 and +1.0), or above average (z > +1.0).

Unit of Measure: Mean z-score (composite across three domains)
At baseline assessment

Misure di risultato secondarie

Misura del risultato
Misura Descrizione
Lasso di tempo
2. Composite cognitive, linguistic, and academic functioning profile in Sturge-Weber Syndrome
Lasso di tempo: At baseline assessment

Multidimensional assessment of language, intellectual, and academic functioning using standardized measures administered at baseline. Domains assessed: (1) Language: receptive vocabulary (PPVT) and grammatical comprehension (TCGB-2); (2) General intellectual functioning: K-BIT2 Composite IQ; (3) Academic skills: reading accuracy/speed, writing/spelling accuracy, and mathematical abilities (Battery for Dyslexia/Dysorthographia and ABCA); (4) Supplementary attention and memory when clinically indicated (BVN subtests). All measures are converted to a uniform z-score scale relative to age-based norms and aggregated into a domain-level composite score for each of the four areas above. A global secondary composite (mean z-score across all available domains) summarizes overall functioning. Performance classified as impaired (z < -1.5), borderline (z between -1.5 and -1.0), average, or above average (z > +1.0) per domain.

Unit of Measure: Mean z-score (composite across domains)
At baseline assessment

Collaboratori e investigatori

Qui è dove troverai le persone e le organizzazioni coinvolte in questo studio.

Sponsor

University of Roma La Sapienza

Collaboratori

IRCCS San Raffaele Roma
Fondazione Telethon

Investigatori

  • Investigatore principale: Laura Piccardi, PhD, University of Roma La Sapienza

Studiare le date dei record

Queste date tengono traccia dell'avanzamento della registrazione dello studio e dell'invio dei risultati di sintesi a ClinicalTrials.gov. I record degli studi e i risultati riportati vengono esaminati dalla National Library of Medicine (NLM) per assicurarsi che soddisfino specifici standard di controllo della qualità prima di essere pubblicati sul sito Web pubblico.

Studia le date principali

Inizio studio (Stimato)

10 giugno 2026

Completamento primario (Stimato)

1 luglio 2026

Completamento dello studio (Stimato)

1 novembre 2026

Date di iscrizione allo studio

Primo inviato

4 giugno 2026

Primo inviato che soddisfa i criteri di controllo qualità

15 giugno 2026

Primo Inserito (Effettivo)

17 giugno 2026

Aggiornamenti dei record di studio

Ultimo aggiornamento pubblicato (Effettivo)

17 giugno 2026

Ultimo aggiornamento inviato che soddisfa i criteri QC

15 giugno 2026

Ultimo verificato

1 giugno 2026

Maggiori informazioni

Termini relativi a questo studio

Termini MeSH pertinenti aggiuntivi

Altri numeri di identificazione dello studio

  • GS25C003

Informazioni su farmaci e dispositivi, documenti di studio

Studia un prodotto farmaceutico regolamentato dalla FDA degli Stati Uniti

No

Studia un dispositivo regolamentato dalla FDA degli Stati Uniti

No

Queste informazioni sono state recuperate direttamente dal sito web clinicaltrials.gov senza alcuna modifica. In caso di richieste di modifica, rimozione o aggiornamento dei dettagli dello studio, contattare register@clinicaltrials.gov. Non appena verrà implementata una modifica su clinicaltrials.gov, questa verrà aggiornata automaticamente anche sul nostro sito web .

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