Clinical trial NCT01950975: Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism.
Official title: Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism. National Multicentre Descriptive Study.
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Malformations With Skin Manifestations Suggesting Mosaicism
Lead sponsor: Centre Hospitalier Universitaire Dijon
Sponsor class: OTHER
First posted: 2013-09-26
Enrollment: 315
Sex: ALL
Minimum age (years): 37
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NON_RANDOMIZED
Intervention model: PARALLEL

Brief summary: The principal result expected is the discovery of inframicroscopic chromosomal rearrangements in regions of the genome not yet known to be involved, or mutations in known candidate genes;

The identification of such a mosaic rearrangement in an affected infant would lead to improved genetic counselling. Indeed, as this mosaicism is a consequence of a genetic event occurring at an early stage of embryogenesis, it would be possible to confirm the sporadic nature of the observed disorder and therefore to predict a very low or even negligible risk of recurrence for the couple concerned. For the affected infant, the risk for his/her own offspring will be assessed according to the nature of the genetic anomaly discovered. For medical practice, investigators hope that this study will lead to a clearer definition of the screening modalities for mosaicism in the disorders concerned. In particular, they hope to determine whether or not it is possible to dispense with a skin biopsy, which is more invasive than a blood sample.


Eligibility criteria: Inclusion Criteria:

* Persons who have provided written informed consent
* Lower age limit: infant born at more than 37 WA
* Sporadic disorder
* Patients presenting at least two skin criteria, or one skin criterion and one non-skin criterion
* Skin criteria: 1- extensive epidermal or sebaceous naevus, 2- Extensive "segmental" haemangioma, 3- Flat angioma or extensive complex vascular malformation, 4-Pigmentary disorders with patterns suggesting mosaicism (Blaschko lines)
* Non-skin criteria: Cerebral, ocular, cardiac or genito-urinary malformation, asymmetric body, segmental hypertrophy of a limb, spinal dysraphism (only when associated with haemangioma)

Exclusion Criteria:

* Persons not covered by the national health insurance scheme
* Mendelian disorders: CM-AVM syndrome, glomangiomatosis, Cowden or Bannayan syndrome, type 1 neurofibromatosis, incontinentia pigmenti, CHILD syndrome, Happle-type chondrodysplasia punctata
* Mendelian mosaic disorders: epidermal or epidermolytic, comedo or dyskeratotic nevus.
* Family history of one of these disorders
* Suspicion or an autosomal dominant disease
* Patient and/or parent under guardianship or ward of court

Primary outcomes:
measure: Presence or not of inframicroscopic chromosomal rearrangements
timeFrame: baselines
Secondary outcomes:
measure: Rate of detection of a chromosomal anomaly
timeFrame: baselines
Other outcomes:
Locations:
city: Dijon
country: France
facility: CHU Dijon
Study officials:
References:
citation: Sorlin A, Maruani A, Aubriot-Lorton MH, Kuentz P, Duffourd Y, Teysseire S, Carmignac V, St-Onge J, Chevarin M, Jouan T, Thauvin-Robinet C, Thevenon J, Faivre L, Riviere JB, Vabres P. Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis. J Invest Dermatol. 2017 Jul;137(7):1575-1578. doi: 10.1016/j.jid.2017.01.035. Epub 2017 Feb 28. No abstract available.