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Completed

NCT Number: NCT00948376

Natural History of Asphyxiating Thoracic Dystrophy (DTJ)

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.

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Key information

Conditions

Asphyxiating Thoracic Dystrophy Jeune syndrome

Sex eligibility

All sexes

Study type

Observational

Primary location

Hopital Necker

Paris, 75013, France

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

IFT80 screening

Genetic

Natural History

Other names: Natural History

Primary outcomes

  1. Natural history of asphyxiating thoracic dystrophy (ATD)

    Time frame: 3 years

Secondary outcomes

  1. Correlation Phenotype-Genotype

    Time frame: 3 years

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Registry information

Official study title

Clinical and Molecular Study, Natural History of Asphyxiating Thoracic Dystrophy (DTJ)

Acronym: DTJ

Important dates

Study start
2007
Primary completion
2011
Study completion
2011
First posted
Jul 29, 2009
Registry last updated
Dec 13, 2011

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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