Sturge-Weber SyndromeNCT07843823
Neurocutaneous Syndromes in Children: Prevalence and Clinical Characteristics
An observational study of Sturge-Weber Syndrome and Neurocutaneous Syndromes, run by Assiut University.
Trial summary
This cross-sectional study aims to determine the prevalence, clinical characteristics, and management patterns of neurocutaneous syndromes among children attending the Pediatric Neurology Unit at Assiut University. Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- Sturge-Weber Syndrome, Neurocutaneous Syndromes, Neurofibromatoses
- How many people
- 100 participants
- Where
- No sites listed yet
- Study dates
- 20 Sep 2026to 20 Feb 2028
- 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 Up to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Children aged from birth to 18 years diagnosed with neurocutaneous syndromes attending the Pediatric Neurology Unit (outpatient or inpatient) at Assiut University during the study period.
Who may be able to join
- Age from birth to 18 years
- Diagnosis of neurocutaneous syndrome according to established clinical and/or genetic diagnostic criteria
- Written informed consent from parents or legal guardians
Who cannot join
- Uncertain diagnosis
- Incomplete medical records
- Refusal of parents or legal guardians to participate
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Prevalence, Clinical Characteristics, and Management of Neurocutaneous Syndromes in Children
This cross-sectional study aims to determine the prevalence, clinical characteristics, and management patterns of neurocutaneous syndromes among children attending the Pediatric Neurology Unit at Assiut University.
Read the detailed description
Neurocutaneous syndromes are congenital multisystem disorders that mainly affect the skin, nervous system, and other organs. This observational study will include children from birth to 18 years diagnosed with neurocutaneous syndromes according to established clinical and/or genetic diagnostic criteria.
Data will be collected on demographic characteristics, clinical manifestations, laboratory and radiological findings, and current management practices.
- Keywords
- Neurocutaneous Syndromes, Phakomatoses, Neurofibromatosis type 1, Tuberous Sclerosis Complex, Sturge-Weber Syndrome, Assiut
- Medical subject headings
- Sturge-Weber Syndrome, Neurocutaneous Syndromes, Neurofibromatoses, Tuberous Sclerosis, Neurofibromatosis 1
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Single cohort: Children with neurocutaneous syndromes | Children from birth to 18 years diagnosed with neurocutaneous syndromes who will undergo clinical, laboratory, radiological, and management assessment. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of Neurocutaneous Syndromes Among Pediatric Neurology Patients
Proportion of children diagnosed with neurocutaneous syndromes among all patients attending the Pediatric Neurology Unit during the study period. Prevalence calculated as number of NCS cases divided by total number of pediatric neurology attendees during the same period.
Measured: Baseline
Distribution of Neurofibromatosis Type 1
Frequency and percentage of Neurofibromatosis type 1 among diagnosed neurocutaneous syndrome cases.
Measured: Baseline
Distribution of Neurofibromatosis Type 2
Frequency and percentage of Neurofibromatosis type 2 among diagnosed neurocutaneous syndrome cases.
Measured: Baseline
Distribution of Tuberous Sclerosis Complex
Frequency and percentage of Tuberous Sclerosis Complex among diagnosed neurocutaneous syndrome cases.
Measured: Baseline
Distribution of Sturge-Weber Syndrome
Frequency and percentage of Sturge-Weber syndrome among diagnosed neurocutaneous syndrome cases.
Measured: Baseline
Distribution of Von Hippel-Lindau Disease
Frequency and percentage of Von Hippel-Lindau disease among diagnosed neurocutaneous syndrome cases.
Measured: Baseline
Distribution of Incontinentia Pigmenti
Frequency and percentage of Incontinentia Pigmenti among diagnosed neurocutaneous syndrome cases.
Measured: Baseline
Distribution of Hypomelanosis of Ito
Frequency and percentage of Hypomelanosis of Ito among diagnosed neurocutaneous syndrome cases.
Measured: Baseline
Secondary outcomes (17)
Cutaneous Manifestations
Frequency and percentage of cutaneous manifestations among children with neurocutaneous syndromes, assessed by clinical examination.
Measured: Baseline
Epilepsy
Frequency and percentage of epilepsy among children with neurocutaneous syndromes, assessed by clinical examination and EEG.
Measured: Baseline
Developmental Delay
Frequency and percentage of developmental delay among children with neurocutaneous syndromes, assessed by clinical examination.
Measured: Baseline
Intellectual Disability
Frequency and percentage of intellectual disability among children with neurocutaneous syndromes, assessed by clinical examination.
Measured: Baseline
CNS Tumors
Frequency and percentage of CNS tumors among children with neurocutaneous syndromes, assessed by MRI.
Measured: Baseline
Ophthalmological Manifestations
Frequency and percentage of ophthalmological manifestations among children with neurocutaneous syndromes, assessed by ophthalmological assessment.
Measured: Baseline
Cardiovascular Manifestations
Frequency and percentage of cardiovascular manifestations among children with neurocutaneous syndromes, assessed by clinical examination.
Measured: Baseline
Renal Manifestations
Frequency and percentage of renal manifestations among children with neurocutaneous syndromes, assessed by clinical examination.
Measured: Baseline
Musculoskeletal Manifestations
Frequency and percentage of musculoskeletal manifestations among children with neurocutaneous syndromes, assessed by clinical examination.
Measured: Baseline
Management Patterns - Antiepileptic Medications
Frequency and percentage of children with neurocutaneous syndromes receiving antiepileptic medications.
Measured: Baseline
Management Patterns - mTOR Inhibitors
Frequency and percentage of children with neurocutaneous syndromes receiving mTOR inhibitors.
Measured: Baseline
Management Patterns - Surgical Interventions
Frequency and percentage of children with neurocutaneous syndromes undergoing surgical interventions.
Measured: Baseline
Management Patterns - Laser Therapy
Frequency and percentage of children with neurocutaneous syndromes receiving laser therapy.
Measured: Baseline
Management Patterns - Physiotherapy
Frequency and percentage of children with neurocutaneous syndromes receiving physiotherapy.
Measured: Baseline
Management Patterns - Occupational Therapy
Frequency and percentage of children with neurocutaneous syndromes receiving occupational therapy.
Measured: Baseline
Management Patterns - Speech Therapy
Frequency and percentage of children with neurocutaneous syndromes receiving speech therapy.
Measured: Baseline
Management Patterns - Multidisciplinary Follow-Up
Frequency and percentage of children with neurocutaneous syndromes receiving multidisciplinary follow-up care.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Sep 2026
- Study start20 Sep 2026 (estimated)
- Primary completion20 Sep 2027 (estimated)
- Study completion20 Feb 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sturge-Weber SyndromeStudies of the same condition, open and under way.
- More trials run by Assiut UniversityThe 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
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assiut University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Eman mahmoud zaghloul, Assiut University
- Investigators
- Mohamed M El telawy, prof, Study chair, pediatrics Department, Assiut University Hospitals
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07843823
- Sponsor's protocol ID
- NCS-PEDS-Assiut-2026
- Status last verified
- Sep 2026
- First submitted
- 17 Sep 2026
- Last updated
- 28 Sep 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 28 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prevalence, Clinical Characteristics, and Management of Neurocutaneous Syndromes in Children
- ClinicalTrials.gov ID
- NCT07843823
- Acronym / sponsor ID
- NCS-PEDS-Assiut-2026
- Keywords
- Neurocutaneous Syndromes, Phakomatoses, Neurofibromatosis type 1, Tuberous Sclerosis Complex, Sturge-Weber Syndrome, Assiut
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Assiut UniversityUniversity, hospital or other
- Study start
- 20 Sep 2026 (estimated)
- Primary completion
- 20 Sep 2027 (estimated)
- Study completion
- 20 Feb 2028 (estimated)
- First posted
- 28 Sep 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.
This cross-sectional study aims to determine the prevalence, clinical characteristics, and management patterns of neurocutaneous syndromes among children attending the Pediatric Neurology Unit at Assiut University.
Detailed description
Neurocutaneous syndromes are congenital multisystem disorders that mainly affect the skin, nervous system, and other organs. This observational study will include children from birth to 18 years diagnosed with neurocutaneous syndromes according to established clinical and/or genetic diagnostic criteria.
Data will be collected on demographic characteristics, clinical manifestations, laboratory and radiological findings, and current management practices.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Single cohort: Children with neurocutaneous syndromes | – | –Children from birth to 18 years diagnosed with neurocutaneous syndromes who will undergo clinical, laboratory, radiological, and management assessment. |
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Children aged from birth to 18 years diagnosed with neurocutaneous syndromes attending the Pediatric Neurology Unit (outpatient or inpatient) at Assiut University during the study period.
Key inclusion criteria (3 listed)
- Age from birth to 18 years
- Diagnosis of neurocutaneous syndrome according to established clinical and/or genetic diagnostic criteria
- Written informed consent from parents or legal guardians
Key exclusion criteria (3 listed)
- Uncertain diagnosis
- Incomplete medical records
- Refusal of parents or legal guardians to participate
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
Prevalence of Neurocutaneous Syndromes Among Pediatric Neurology Patients
Time frame: Baseline
Proportion of children diagnosed with neurocutaneous syndromes among all patients attending the Pediatric Neurology Unit during the study period. Prevalence calculated as number of NCS cases divided by total number of pediatric neurology attendees during the same period.
Distribution of Neurofibromatosis Type 1
Time frame: Baseline
Frequency and percentage of Neurofibromatosis type 1 among diagnosed neurocutaneous syndrome cases.
Distribution of Neurofibromatosis Type 2
Time frame: Baseline
Frequency and percentage of Neurofibromatosis type 2 among diagnosed neurocutaneous syndrome cases.
Distribution of Tuberous Sclerosis Complex
Time frame: Baseline
Frequency and percentage of Tuberous Sclerosis Complex among diagnosed neurocutaneous syndrome cases.
Distribution of Sturge-Weber Syndrome
Time frame: Baseline
Frequency and percentage of Sturge-Weber syndrome among diagnosed neurocutaneous syndrome cases.
Distribution of Von Hippel-Lindau Disease
Time frame: Baseline
Frequency and percentage of Von Hippel-Lindau disease among diagnosed neurocutaneous syndrome cases.
Distribution of Incontinentia Pigmenti
Time frame: Baseline
Frequency and percentage of Incontinentia Pigmenti among diagnosed neurocutaneous syndrome cases.
Distribution of Hypomelanosis of Ito
Time frame: Baseline
Frequency and percentage of Hypomelanosis of Ito among diagnosed neurocutaneous syndrome cases.
17 secondary outcomes
Cutaneous Manifestations
Time frame: Baseline
Epilepsy
Time frame: Baseline
Developmental Delay
Time frame: Baseline
Intellectual Disability
Time frame: Baseline
CNS Tumors
Time frame: Baseline
Ophthalmological Manifestations
Time frame: Baseline
Cardiovascular Manifestations
Time frame: Baseline
Renal Manifestations
Time frame: Baseline
Musculoskeletal Manifestations
Time frame: Baseline
Management Patterns - Antiepileptic Medications
Time frame: Baseline
Management Patterns - mTOR Inhibitors
Time frame: Baseline
Management Patterns - Surgical Interventions
Time frame: Baseline
Management Patterns - Laser Therapy
Time frame: Baseline
Management Patterns - Physiotherapy
Time frame: Baseline
Management Patterns - Occupational Therapy
Time frame: Baseline
Management Patterns - Speech Therapy
Time frame: Baseline
Management Patterns - Multidisciplinary Follow-Up
Time frame: Baseline
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 28 Sep 2026.
- Individual participant dataSharing planned: No
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A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation (The ReInspire Study)
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Active, not recruiting
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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.
Mohamed M El telawy, prof study chair
pediatrics Department, Assiut University Hospitals
Questions about this trial
What is this clinical trial studying?
An observational study of Sturge-Weber Syndrome and Neurocutaneous Syndromes, run by Assiut University.
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 3 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: opening soon, as of the sponsor's last update on 28 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
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 Eman M Zagloul, Resident (+20 11 51146456, emanmahmoudzagloul@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of Neurocutaneous Syndromes Among Pediatric Neurology Patients (time frame: Baseline). The study lists 8 primary outcomes in all. 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 28 Sep 2026.