Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
20 participants
OBSERVATIONAL
2021-03-03
2026-03-31
Brief Summary
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Detailed Description
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Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Patients with an intronic variant unknown in a gene implicated in cone disorders.
Blood and/or skin biopsy
Blood and/or skin biopsy will be withdrawn, for RNA extraction in order to test the effect of the variant on splicing.
Interventions
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Blood and/or skin biopsy
Blood and/or skin biopsy will be withdrawn, for RNA extraction in order to test the effect of the variant on splicing.
Eligibility Criteria
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Inclusion Criteria
* identification of a variant of unknown significance
* possibility of samplings
* informed consent
Exclusion Criteria
* no informed consent
3 Years
ALL
No
Sponsors
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University Hospital, Lille
OTHER
Responsible Party
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Principal Investigators
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Claire-Marie DHAENENS, MD
Role: PRINCIPAL_INVESTIGATOR
University Hospital, Lille
Locations
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CHU lille
Lille, , France
Countries
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Central Contacts
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Facility Contacts
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Role: primary
Other Identifiers
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2020-A02559-30
Identifier Type: OTHER
Identifier Source: secondary_id
2020_66
Identifier Type: -
Identifier Source: org_study_id
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