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

Malformations With Skin Manifestations Suggesting Mosaicism Clinical Trial

— MOSAÏQUE  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01950975
• Other study ID #: VABRES PHRC N 2010
• Status: Completed
• Phase: N/A
• Start date: February 20, 2012

Study information

• Verified date: February 2024
• Source: Centre Hospitalier Universitaire Dijon
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 315
• Est. primary completion date: September 8, 2017
• Accepts healthy volunteers: No
• Gender: All
• Age group: 37 Weeks and older

Eligibility

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

Related Conditions & MeSH terms

• Malformations With Skin Manifestations Suggesting Mosaicism
• Skin Manifestations

Intervention

Biological:
• Peripheral blood samples in EDTA tubes

Procedure:
• Skin biopsies

Locations

Country	Name	City	State
France	CHU Dijon	Dijon

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire Dijon

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Presence or not of inframicroscopic chromosomal rearrangements		baselines
Secondary	Rate of detection of a chromosomal anomaly		baselines