Natural History of Asphyxiating Thoracic Dystrophy (DTJ)
NCT ID: NCT00948376
Last Updated: 2011-12-13
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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COMPLETED
50 participants
OBSERVATIONAL
2007-11-30
2011-07-31
Brief Summary
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Detailed Description
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In the course of the disease, renal, liver and eye complications may occur. However, their frequencies are unknown.
ATD is transmitted with an autosomal mode of inheritance and up till now only one gene has been identified, namely IFT80, which accounts only for a small part of ATD.
The aim of our project is to prospectively analyze at a clinical and molecular level a series of 50 ATD patients and 20 fetuses to further define the natural history of the disorder and to contribute to the identification of its molecular basis.
Conditions
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Keywords
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Patients
All ages
IFT80 screening
Natural History
Fetuses
IFT80 screening
Natural History
Interventions
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IFT80 screening
Natural History
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
* Trident acetabular roof
* Short hands
* All ages
* Informed consent signed
Exclusion Criteria
* Ellis van creveld syndrome
* No social security
ALL
No
Sponsors
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Assistance Publique - Hôpitaux de Paris
OTHER
Responsible Party
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Principal Investigators
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Valérie Cormier-Daire, PUPH
Role: PRINCIPAL_INVESTIGATOR
Assistance Publique - Hôpitaux de Paris
Locations
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Hopital Necker
Paris, , France
Countries
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Other Identifiers
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P060223
Identifier Type: -
Identifier Source: org_study_id