Natural History of Asphyxiating Thoracic Dystrophy (DTJ)

Completed

• Conditions: Asphyxiating Thoracic Dystrophy
• Interventions: Genetic: IFT80 screening

• Registration Number: NCT00948376
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

Brief Summary

The aim of the project is to prospectively analyze at a clinical and molecular level a series of 50 asphyxiating thoracic dysplasia (ATD) patients and 20 fetuses to further define the natural history of the disorder and to contribute to the identification of its molecular basis.

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 Timeline

• Study Start: 2007-11
• Study First Submitted: 2009-07-28
• Study First Submitted QC: 2009-07-28
• Study First Posted: 2009-07-29
• Status Verified: 2011-06
• Primary Completion: 2011-07
• Study Completion: 2011-07
• Last Update Submitted: 2011-12-12
• Last Update Posted: 2011-12-13

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 50

Inclusion Criteria

• Short ribs with narrow thorax
• Trident acetabular roof
• Short hands
• All ages
• Informed consent signed

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Exclusion Criteria

• Other disease
• Ellis van creveld syndrome
• No social security

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Fetuses	IFT80 screening	-
Patients	IFT80 screening	All ages

Primary Outcome Measures

Name	Time	Method
Natural history of asphyxiating thoracic dystrophy (ATD)	3 years

Secondary Outcome Measures

Name	Time	Method
Correlation Phenotype-Genotype	3 years

Trial Locations

Locations (1)

Hopital Necker; 🇫🇷 Paris, France