Sturge - Weber Syndrome (SWS)NPS-SWSNCT07655492
Developing a Tailored Neuropsychological Rehabilitation for Sturge-Weber Syndrome
An observational study of Sturge - Weber Syndrome (SWS), run by University of Roma La Sapienza at 1 site in Italy.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- Sturge - Weber Syndrome (SWS)
- How many people
- 40 participants
- Where
- 1 siteItaly
- Study dates
- 10 Jun 2026to 1 Nov 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
Department of Psychology University of Rome
Roma, Roma, 00185
Laura Piccardi, PhD, +39 06 49917527, laura.piccardi@uniroma1.it
About this study
Official title: 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?
Read more
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.
- Conditions
- Sturge - Weber Syndrome (SWS)
- Medical subject headings
- Brain Stem Infarctions
What is being measured
The primary outcome is the main question the study is designed to answer.
1. Composite neuropsychological profile across visuospatial, working memory, and executive function domains
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)
Measured: At baseline assessment
Secondary outcomes (1)
2. Composite cognitive, linguistic, and academic functioning profile in Sturge-Weber Syndrome
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)
Measured: At baseline assessment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Jun 2026
- Study start10 Jun 2026 (estimated)
- Primary completion1 Jul 2026 (estimated)
- Study completion1 Nov 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sturge - Weber Syndrome (SWS)Studies of the same condition, open and under way.
- More trials run by University of Roma La SapienzaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Roma La Sapienza
- Sponsor type
- University, hospital or other
- Collaborators
- IRCCS San Raffaele Roma, Fondazione Telethon
- Responsible party
- Principal investigator, Laura Piccardi, University of Roma La Sapienza
- Investigators
- Laura Piccardi, PhD, Principal investigator, University of Roma La Sapienza
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07655492
- Sponsor's protocol ID
- GS25C003
- Acronym
- NPS-SWS
- Status last verified
- Jun 2026
- First submitted
- 4 Jun 2026
- Last updated
- 17 Jun 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Exploring the Neuropsychological Profile of Sturge-Weber Syndrome for Developing Tailored Rehabilitation.
- ClinicalTrials.gov ID
- NCT07655492
- Acronym / sponsor ID
- NPS-SWS / GS25C003
- Conditions
- Sturge - Weber Syndrome (SWS)
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- University of Roma La SapienzaUniversity, hospital or other
- Collaborators
- IRCCS San Raffaele Roma, Fondazione Telethon
- Study start
- 10 Jun 2026 (estimated)
- Primary completion
- 1 Jul 2026 (estimated)
- Study completion
- 1 Nov 2026 (estimated)
- First posted
- 17 Jun 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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)
1 secondary outcome
2. Composite cognitive, linguistic, and academic functioning profile in Sturge-Weber Syndrome
Time frame: At baseline assessment
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Jun 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Laura Piccardi, PhD principal investigator
University of Roma La Sapienza
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Sturge - Weber Syndrome (SWS), run by University of Roma La Sapienza at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 17 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Laura Piccardi, PhD (+39 06 49917527, laura.piccardi@uniroma1.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
1. Composite neuropsychological profile across visuospatial, working memory, and executive function domains (time frame: At baseline assessment). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Jun 2026.