Completed

NCT Number: NCT01950975

Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism.

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.

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Key information

Conditions

Malformations With Skin Manifestations Suggesting Mosaicism

Age range

37 week and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

CHU Dijon

Dijon, 21000, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Peripheral blood samples in EDTA tubes

Biological

Skin biopsies

Procedure

Primary outcomes

Presence or not of inframicroscopic chromosomal rearrangements

Time frame: baselines

Secondary outcomes

Rate of detection of a chromosomal anomaly

Time frame: baselines

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire Dijon

Other

Registry information

Official study title

Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism. National Multicentre Descriptive Study.

Acronym: MOSAÏQUE

Important dates

Study start: 2012
Primary completion: 2017
First posted: Sep 26, 2013
Registry last updated: Feb 21, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.