Genetic Disease Clinical Trial
— ReACOfficial title:
Intérêt de la réinterprétation Des CNV de Signification Inconnue Mis en évidence Par ACPA
NCT number | NCT04575350 |
Other study ID # | ReAC |
Secondary ID | |
Status | Completed |
Phase | |
First received | |
Last updated | |
Start date | January 1, 2019 |
Est. completion date | June 1, 2020 |
Verified date | September 2020 |
Source | Central Hospital, Nancy, France |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
We aim to assess the usefulness of systematic reinterpretation of CNV of unknown significance. To investigate this question we will study all CNV of unknown significance detected between 2010 and 2017.
Status | Completed |
Enrollment | 282 |
Est. completion date | June 1, 2020 |
Est. primary completion date | June 1, 2020 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | N/A and older |
Eligibility |
Inclusion Criteria: - Signed consent for array-CGH (authorization for the conservation of a biological sample and its subsequent use to continue investigations); - array-CGHcarried out at the genetics laboratory in Nancy between 1st January 2010 and 31th December 2017 (considering the date of validation of the report); - Identification of variations of unknown clinical significance. Exclusion Criteria: - none |
Country | Name | City | State |
---|---|---|---|
France | Lorraine University | Nancy |
Lead Sponsor | Collaborator |
---|---|
Central Hospital, Nancy, France |
France,
Palmer E, Speirs H, Taylor PJ, Mullan G, Turner G, Einfeld S, Tonge B, Mowat D. Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability. Am J Med Genet A. 2014 Feb;164A(2):377-85. doi: 10.1002/ajmg.a.36279. Epub 2013 Dec 5. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Define the overall rate and per year of reclassification of CNVs after systematic analysis of all those identified as VUS between 2010 and 2016. | The proportion of pathogenic variants will correspond to the percentage of pathogenic variants among all reclassified variants. | between july 2019 and november 2019 | |
Secondary | Among the reclassified CNVs, define the proportion of pathogenic variants ; | The proportion of pathogenic variants will correspond to the percentage of pathogenic variants among all reclassified variants. | between july 2019 and november 2019 | |
Secondary | Among the CNVs reclassified as pathogens, define the proportion of new diagnoses ; | The proportion of new diagnoses corresponds to the proportion of patients for whom the pathogenicity is related to the pathology among all resolved pathogenic variants. | between july 2019 and november 2019 | |
Secondary | Compare the rate of reclassification of CNVs by type (deletion/duplication) | The type of reclassification is defined either by deletion or by chromosomal duplication | between july 2019 and november 2019 | |
Secondary | Compare the size of the CNV according to the type of reclassification of the variant. | in bp | between july 2019 and november 2019 | |
Secondary | Compare the reclassification rate by type of disease. | The following types of conditions will be considered: prenatal/postnatal; intellectual disability or neurodevelopmental disorder/malformation/other. | between july 2019 and november 2019 |
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