An observational study in Sturge-Weber Syndrome, Neurocutaneous Syndromes and Neurofibromatoses, sponsored by Assiut University. Not yet recruiting. Open to participants aged Up to 18 Years. Per ClinicalTrials.gov, last updated 2026-09-28.
Sponsored by Assiut University · Observational
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.
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.
186 studies on the registry are indexed under Neurofibromatoses; 24 are open to participants now.
This study's planned enrollment of 100 is above the median of 78 across 56 observational studies indexed under Neurofibromatoses.
Browse Neurofibromatoses studies →Assiut University is the lead sponsor of 4,901 studies on the registry; 2,098 are open to participants now.
Of its 13 completed or terminated interventional studies of FDA-regulated products, 0 (0%) have results posted.
Counted across the registry records on this site, refreshed daily.
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.
Exclusion Criteria
Children from birth to 18 years diagnosed with neurocutaneous syndromes who will undergo clinical, laboratory, radiological, and management assessment.
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.
Time frame: Baseline
Distribution of Neurofibromatosis Type 1
Frequency and percentage of Neurofibromatosis type 1 among diagnosed neurocutaneous syndrome cases.
Time frame: Baseline
Distribution of Neurofibromatosis Type 2
Frequency and percentage of Neurofibromatosis type 2 among diagnosed neurocutaneous syndrome cases.
Time frame: Baseline
Distribution of Tuberous Sclerosis Complex
Frequency and percentage of Tuberous Sclerosis Complex among diagnosed neurocutaneous syndrome cases.
Time frame: Baseline
Distribution of Sturge-Weber Syndrome
Frequency and percentage of Sturge-Weber syndrome among diagnosed neurocutaneous syndrome cases.
Time frame: Baseline
Distribution of Von Hippel-Lindau Disease
Frequency and percentage of Von Hippel-Lindau disease among diagnosed neurocutaneous syndrome cases.
Time frame: Baseline
Distribution of Incontinentia Pigmenti
Frequency and percentage of Incontinentia Pigmenti among diagnosed neurocutaneous syndrome cases.
Time frame: Baseline
Distribution of Hypomelanosis of Ito
Frequency and percentage of Hypomelanosis of Ito among diagnosed neurocutaneous syndrome cases.
Time frame: Baseline
Cutaneous Manifestations
Frequency and percentage of cutaneous manifestations among children with neurocutaneous syndromes, assessed by clinical examination.
Time frame: Baseline
Epilepsy
Frequency and percentage of epilepsy among children with neurocutaneous syndromes, assessed by clinical examination and EEG.
Time frame: Baseline
Developmental Delay
Frequency and percentage of developmental delay among children with neurocutaneous syndromes, assessed by clinical examination.
Time frame: Baseline
Intellectual Disability
Frequency and percentage of intellectual disability among children with neurocutaneous syndromes, assessed by clinical examination.
Time frame: Baseline
CNS Tumors
Frequency and percentage of CNS tumors among children with neurocutaneous syndromes, assessed by MRI.
Time frame: Baseline
Ophthalmological Manifestations
Frequency and percentage of ophthalmological manifestations among children with neurocutaneous syndromes, assessed by ophthalmological assessment.
Time frame: Baseline
Cardiovascular Manifestations
Frequency and percentage of cardiovascular manifestations among children with neurocutaneous syndromes, assessed by clinical examination.
Time frame: Baseline
Renal Manifestations
Frequency and percentage of renal manifestations among children with neurocutaneous syndromes, assessed by clinical examination.
Time frame: Baseline
Musculoskeletal Manifestations
Frequency and percentage of musculoskeletal manifestations among children with neurocutaneous syndromes, assessed by clinical examination.
Time frame: Baseline
Management Patterns - Antiepileptic Medications
Frequency and percentage of children with neurocutaneous syndromes receiving antiepileptic medications.
Time frame: Baseline
Management Patterns - mTOR Inhibitors
Frequency and percentage of children with neurocutaneous syndromes receiving mTOR inhibitors.
Time frame: Baseline
Management Patterns - Surgical Interventions
Frequency and percentage of children with neurocutaneous syndromes undergoing surgical interventions.
Time frame: Baseline
Management Patterns - Laser Therapy
Frequency and percentage of children with neurocutaneous syndromes receiving laser therapy.
Time frame: Baseline
Management Patterns - Physiotherapy
Frequency and percentage of children with neurocutaneous syndromes receiving physiotherapy.
Time frame: Baseline
Management Patterns - Occupational Therapy
Frequency and percentage of children with neurocutaneous syndromes receiving occupational therapy.
Time frame: Baseline
Management Patterns - Speech Therapy
Frequency and percentage of children with neurocutaneous syndromes receiving speech therapy.
Time frame: Baseline
Management Patterns - Multidisciplinary Follow-Up
Frequency and percentage of children with neurocutaneous syndromes receiving multidisciplinary follow-up care.
Time frame: Baseline
No study locations are listed for this record.
Plan to share: No
No publications or documents are linked to this record.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
This study is not yet recruiting, as verified in Sep 2026. You cannot join it, but the record below documents what was studied.
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Sturge-Weber Syndrome
Assiut University