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

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ClinicalTrials.gov Identifier: NCT01950975
Recruitment Status : Unknown
Verified September 2013 by Centre Hospitalier Universitaire Dijon.
Recruitment status was:  Recruiting
First Posted : September 26, 2013
Last Update Posted : September 26, 2013
Sponsor:
Information provided by (Responsible Party):
Centre Hospitalier Universitaire Dijon

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.


Condition or disease Intervention/treatment Phase
Malformations With Skin Manifestations Suggesting Mosaicism Biological: Peripheral blood samples in EDTA tubes Procedure: Skin biopsies Not Applicable

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 240 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Official Title: Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism. National Multicentre Descriptive Study.
Estimated Primary Completion Date : February 2014

Arm Intervention/treatment
Parents
2 parents of child
Biological: Peripheral blood samples in EDTA tubes
infant Biological: Peripheral blood samples in EDTA tubes
Procedure: Skin biopsies



Primary Outcome Measures :
  1. Presence or not of inframicroscopic chromosomal rearrangements [ Time Frame: baselines ]

Secondary Outcome Measures :
  1. Rate of detection of a chromosomal anomaly [ Time Frame: baselines ]


Information from the National Library of Medicine

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Ages Eligible for Study:   37 Weeks and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01950975


Contacts
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Contact: Pierre VABRES 03.80.29.33. 36 pierre.vabres@chu-dijon.fr

Locations
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France
CHU Dijon Recruiting
Dijon, France, 21000
Contact: Pierre VABRES    03.80.29.33. 36    pierre.vabres@chu-dijon.fr   
Sponsors and Collaborators
Centre Hospitalier Universitaire Dijon

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Centre Hospitalier Universitaire Dijon
ClinicalTrials.gov Identifier: NCT01950975    
Other Study ID Numbers: VABRES PHRC N 2010
First Posted: September 26, 2013    Key Record Dates
Last Update Posted: September 26, 2013
Last Verified: September 2013
Additional relevant MeSH terms:
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Congenital Abnormalities
Skin Manifestations
Signs and Symptoms