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

15 juni 2026 bijgewerkt door: 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.

Studie Overzicht

Toestand

Werving

Conditie

Studietype

Observationeel

Inschrijving (Geschat)

40

Contacten en locaties

In dit gedeelte vindt u de contactgegevens van degenen die het onderzoek uitvoeren en informatie over waar dit onderzoek wordt uitgevoerd.

Studiecontact

Studie Locaties

  • Italië
    • Roma
      • Roma, Roma, Italië, 00185
        • Werving
        • Department of Psychology University of Rome
        • Contact:

Deelname Criteria

Onderzoekers zoeken naar mensen die aan een bepaalde beschrijving voldoen, de zogenaamde geschiktheidscriteria. Enkele voorbeelden van deze criteria zijn iemands algemene gezondheidstoestand of eerdere behandelingen.

Geschiktheidscriteria

Leeftijden die in aanmerking komen voor studie

  • Kind
  • Volwassen
  • Oudere volwassene

Accepteert gezonde vrijwilligers

Nee

Bemonsteringsmethode

Niet-waarschijnlijkheidssteekproef

Studie Bevolking

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

Beschrijving

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

Studie plan

Dit gedeelte bevat details van het studieplan, inclusief hoe de studie is opgezet en wat de studie meet.

Hoe is de studie opgezet?

Ontwerpdetails

Wat meet het onderzoek?

Primaire uitkomstmaten

Uitkomstmaat
Maatregel Beschrijving
Tijdsspanne
1. Composite neuropsychological profile across visuospatial, working memory, and executive function domains
Tijdsspanne: 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

Secundaire uitkomstmaten

Uitkomstmaat
Maatregel Beschrijving
Tijdsspanne
2. Composite cognitive, linguistic, and academic functioning profile in Sturge-Weber Syndrome
Tijdsspanne: 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

Medewerkers en onderzoekers

Hier vindt u mensen en organisaties die betrokken zijn bij dit onderzoek.

Sponsor

University of Roma La Sapienza

Medewerkers

IRCCS San Raffaele Roma
Fondazione Telethon

Onderzoekers

  • Hoofdonderzoeker: Laura Piccardi, PhD, University of Roma La Sapienza

Studie record data

Deze datums volgen de voortgang van het onderzoeksdossier en de samenvatting van de ingediende resultaten bij ClinicalTrials.gov. Studieverslagen en gerapporteerde resultaten worden beoordeeld door de National Library of Medicine (NLM) om er zeker van te zijn dat ze voldoen aan specifieke kwaliteitscontrolenormen voordat ze op de openbare website worden geplaatst.

Bestudeer belangrijke data

Studie start (Geschat)

10 juni 2026

Primaire voltooiing (Geschat)

1 juli 2026

Studie voltooiing (Geschat)

1 november 2026

Studieregistratiedata

Eerst ingediend

4 juni 2026

Eerst ingediend dat voldeed aan de QC-criteria

15 juni 2026

Eerst geplaatst (Werkelijk)

17 juni 2026

Updates van studierecords

Laatste update geplaatst (Werkelijk)

17 juni 2026

Laatste update ingediend die voldeed aan QC-criteria

15 juni 2026

Laatst geverifieerd

1 juni 2026

Meer informatie

Termen gerelateerd aan deze studie

Aanvullende relevante MeSH-voorwaarden

Andere studie-ID-nummers

  • GS25C003

Informatie over medicijnen en apparaten, studiedocumenten

Bestudeert een door de Amerikaanse FDA gereguleerd geneesmiddel

Nee

Bestudeert een door de Amerikaanse FDA gereguleerd apparaatproduct

Nee

Deze informatie is zonder wijzigingen rechtstreeks van de website clinicaltrials.gov gehaald. Als u verzoeken heeft om uw onderzoeksgegevens te wijzigen, te verwijderen of bij te werken, neem dan contact op met register@clinicaltrials.gov. Zodra er een wijziging wordt doorgevoerd op clinicaltrials.gov, wordt deze ook automatisch bijgewerkt op onze website .

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