- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00948376
Natural History of Asphyxiating Thoracic Dystrophy (DTJ) (DTJ)
Clinical and Molecular Study, Natural History of Asphyxiating Thoracic Dystrophy (DTJ)
Study Overview
Status
Conditions
Intervention / Treatment
Detailed Description
Asphyxiating thoracic dysplasia (ATD, MIM 208500) belongs to the short rib polydactyly group and is characterized by short ribs often responsible for an early death due to respiratory distress, trident acetabular roof and short long bones.
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.
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
-
-
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Paris, France, 75013
- Hôpital Necker
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Patients with:
- Short ribs with narrow thorax
- Trident acetabular roof
- Short hands
Description
Inclusion Criteria:
- Short ribs with narrow thorax
- Trident acetabular roof
- Short hands
- All ages
- Informed consent signed
Exclusion Criteria:
- Other disease
- Ellis van creveld syndrome
- No social security
Study Plan
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
Patients
All ages
|
Natural History
Other Names:
|
Fetuses
|
Natural History
Other Names:
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Natural history of asphyxiating thoracic dystrophy (ATD)
Time Frame: 3 years
|
3 years
|
Secondary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Correlation Phenotype-Genotype
Time Frame: 3 years
|
3 years
|
Collaborators and Investigators
Investigators
- Principal Investigator: Valérie Cormier-Daire, PUPH, Assistance Publique - Hôpitaux de Paris
Study record dates
Study Major Dates
Study Start
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Estimate)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- P060223
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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