NCT01950975

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.

Trial Health

80
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
315

participants targeted

Target at P75+ for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

February 20, 2012

Completed
1.5 years until next milestone

First Submitted

Initial submission to the registry

August 27, 2013

Completed
1 month until next milestone

First Posted

Study publicly available on registry

September 26, 2013

Completed
4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 8, 2017

Completed
Last Updated

February 21, 2024

Status Verified

February 1, 2024

Enrollment Period

5.6 years

First QC Date

August 27, 2013

Last Update Submit

February 20, 2024

Conditions

Malformations With Skin Manifestations Suggesting Mosaicism

Outcome Measures

Primary Outcomes (1)

  • Presence or not of inframicroscopic chromosomal rearrangements

    baselines

Secondary Outcomes (1)

  • Rate of detection of a chromosomal anomaly

    baselines

Study Arms (2)

Parents

OTHER

2 parents of child

Biological: Peripheral blood samples in EDTA tubes

infant

OTHER
Biological: Peripheral blood samples in EDTA tubesProcedure: Skin biopsies

Interventions

Peripheral blood samples in EDTA tubesBIOLOGICAL
Parentsinfant
Skin biopsiesPROCEDURE
infant

Eligibility Criteria

Age37 Weeks+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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)

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

CHU Dijon

Dijon, 21000, France

Location

Related Publications (2)

  • Faivre L, Crepin JC, Reda M, Nambot S, Carmignac V, Abadie C, Mirault T, Faure-Conter C, Mazereeuw-Hautier J, Maza A, Puzenat E, Collonge-Rame MA, Bursztejn AC, Philippe C, Thauvin-Robinet C, Chevarin M, Abasq-Thomas C, Amiel J, Arpin S, Barbarot S, Baujat G, Bessis D, Bourrat E, Boute O, Chassaing N, Coubes C, Demeer B, Edery P, El Chehadeh S, Goldenberg A, Hadj-Rabia S, Haye D, Isidor B, Jacquemont ML, Van Kien PK, Lacombe D, Lehalle D, Lambert L, Martin L, Maruani A, Morice-Picard F, Petit F, Phan A, Pinson L, Rossi M, Touraine R, Vanlerberghe C, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Verkarre V, Devalland C, Devouassoux-Shisheboran M, Abad M, Rioux-Leclercq N, Bonniaud B, Duffourd Y, Martel J, Binquet C, Kuentz P, Vabres P. Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations. Clin Genet. 2023 Nov;104(5):554-563. doi: 10.1111/cge.14410. Epub 2023 Aug 14.

    PMID: 37580112DERIVED

  • 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.

    PMID: 28257793DERIVED

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Intervention Model
PARALLEL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 27, 2013

First Posted

September 26, 2013

Study Start

February 20, 2012

Primary Completion

September 8, 2017

Last Updated

February 21, 2024

Record last verified: 2024-02

Locations

FR(1)