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Main
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Note: This record shows only 22 elements of the WHO Trial Registration Data Set. To view changes that have been made to the source record, or for additional information about this trial, click on the URL below to go to the source record in the primary register. |
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Register:
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ClinicalTrials.gov |
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Last refreshed on:
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16 December 2017 |
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Main ID: |
NCT03222947 |
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Date of registration:
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18/07/2017 |
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Prospective Registration:
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Yes |
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Primary sponsor: |
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Public title:
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New Variants Involved in Taybi-Linder Syndrome
NewViTALS |
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Scientific title:
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Identification of New Genes Involved in the Taybi-Linder Syndrome. |
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Date of first enrolment:
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September 2017 |
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Target sample size:
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19 |
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Recruitment status: |
Not yet recruiting |
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URL:
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https://clinicaltrials.gov/show/NCT03222947 |
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Study type:
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Observational |
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Study design:
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Phase:
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N/A
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Countries of recruitment
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France
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Contacts
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Name:
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Audrey PUTOUX, MCU-PH |
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Address:
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Telephone:
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04 27 85 50 83 |
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Email:
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audrey.putoux@chu-lyon.fr |
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Affiliation:
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Name:
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Audrey PUTOUX, MCU-PH |
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Address:
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Telephone:
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04 27 85 50 83 |
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Email:
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audrey.putoux@chu-lyon.fr |
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Affiliation:
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Key inclusion & exclusion criteria
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Inclusion Criteria:
- foetus or young children diagnosed with a Taybi-Linder or Taybi-Linder like syndrome,
with no RNU4ATAC mutation (index case)
- aged 20 weeks pregnant to 18 years old
- parents or sibling of the index cases, with informed consent for the analysis of both
their DNA sample and the one of the index case.
Exclusion Criteria:
- no informed consent for the use of genetic samples for medical research
Age minimum:
N/A
Age maximum:
N/A
Gender:
All
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Health Condition(s) or Problem(s) studied
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Taybi Linder Syndrome
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Genetic Syndrome
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Intervention(s)
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Genetic: Deoxyribonucleic acid analysis
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Primary Outcome(s)
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Identification of new variants involved in the Taybi-Linder syndrome
[Time Frame: Collection at time of diagnosis = less than one day]
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Secondary ID(s)
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69HCL16_0774
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Source(s) of Monetary Support
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Please refer to primary and secondary sponsors
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Results
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Results available:
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Date Posted:
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Date Completed:
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URL:
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