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

June 15, 2026 updated by: 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.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

40

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Italy
    • Roma
      • Roma, Roma, Italy, 00185
        • Recruiting
        • Department of Psychology University of Rome
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

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

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
1. Composite neuropsychological profile across visuospatial, working memory, and executive function domains
Time Frame: 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

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
2. Composite cognitive, linguistic, and academic functioning profile in Sturge-Weber Syndrome
Time Frame: 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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Roma La Sapienza

Collaborators

IRCCS San Raffaele Roma
Fondazione Telethon

Investigators

  • Principal Investigator: Laura Piccardi, PhD, University of Roma La Sapienza

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

June 10, 2026

Primary Completion (Estimated)

July 1, 2026

Study Completion (Estimated)

November 1, 2026

Study Registration Dates

First Submitted

June 4, 2026

First Submitted That Met QC Criteria

June 15, 2026

First Posted (Actual)

June 17, 2026

Study Record Updates

Last Update Posted (Actual)

June 17, 2026

Last Update Submitted That Met QC Criteria

June 15, 2026

Last Verified

June 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • GS25C003

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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