RecruitingNCT05954416
Dermatological
Incontinentia Pigmenti
Also known as IP, Bloch-Sulzberger syndrome, IKBKG mutation
Incontinentia pigmenti is an X-linked dominant neuroectodermal disorder caused by pathogenic variants in IKBKG (also known as NEMO), a gene encoding a key regulator of the NF-kB signalling pathway. The condition predominantly affects female
ORPHA:464 ↗Gene IKBKGPrevalence Less than 1 in 50,000Onset NeonatalX-linked dominant (lethal in males)
1
studies recruiting now
as of 7 Sept 2026
3
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
20 Jul 2023
most recent study posted
among recruiting studies
Recruiting trials
Showing the 1 most recently updated recruiting study, as recorded 7 Sept 2026. Live status on each study page.
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About Incontinentia Pigmenti
Incontinentia pigmenti is an X-linked dominant neuroectodermal disorder caused by pathogenic variants in IKBKG (also known as NEMO), a gene encoding a key regulator of the NF-kB signalling pathway. The condition predominantly affects females, as hemizygous males typically do not survive to term; male patients with somatic mosaicism or Klinefelter syndrome are occasionally reported. The disorder progresses through four distinct cutaneous stages — vesicular, verrucous, hyperpigmented, and atrophic — while systemically affecting the eyes, teeth, central nervous system, and hair.
Common clinical features
Stage 1 vesicular rash: inflammatory blisters along Blaschko's lines appearing at birth or within the first weeks of lifeStage 2 verrucous plaques: warty, hyperkeratotic lesions developing on the limbs during infancyStage 3 hyperpigmentation: swirling, whorled brown pigmentation following Blaschko's lines persisting through childhoodStage 4 atrophic streaks: hypopigmented, hairless, atrophic skin lines in adulthoodOcular abnormalities including retinal vascular disease, retinal detachment, and visual impairment in up to 35% of patientsDental anomalies: delayed dentition, hypodontia, conical or peg-shaped teethNeurological involvement: seizures, intellectual disability, spasticity, and cerebral infarcts in a subset of patients
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Incontinentia Pigmenti. Not eligibility rules; those are set by each study.
- Molecular confirmation of IKBKG deletion (exons 4–10 genomic rearrangement accounts for approximately 80% of cases) is typically required — MLPA or array CGH is the preferred first-line test.
- Multisystem involvement means eligibility may depend on ophthalmology and neurology assessment findings; arrange baseline retinal examination and neurological evaluation before screening.
- As the condition is nearly exclusive to females, trials may specify sex-based inclusion criteria; verify whether mosaic male cases are eligible under the specific protocol.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).