Natural History of Asphyxiating Thoracic Dystrophy (DTJ)

Assistance Publique - Hôpitaux de Paris

Status: Completed

Conditions: Asphyxiating Thoracic Dystrophy

Treatments: Genetic: IFT80 screening

Study type: Observational

Funder types: Other

Identifiers

NCT00948376

P060223

Details and patient eligibility

About

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.

Full 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.

Enrollment: 50 patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

50 participants in 2 patient groups

Patients

Description:

All ages

Treatment:

Genetic: IFT80 screening

Fetuses

Treatment:

Genetic: IFT80 screening