Natural History of Asphyxiating Thoracic Dystrophy (DTJ) (DTJ)

December 12, 2011 updated by: Assistance Publique - Hôpitaux de Paris

Clinical and Molecular Study, 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.

Study Overview

Status

Completed

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

Observational

Enrollment (Actual)

50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Paris, France, 75013
        • Hopital Necker

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

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

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Patients
All ages
Genetic: IFT80 screening
Natural History
Other Names:
  • Natural History
Fetuses
Genetic: IFT80 screening
Natural History
Other Names:
  • Natural History

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

This is where you will find people and organizations involved with this study.

Sponsor

Assistance Publique - Hôpitaux de Paris

Investigators

  • Principal Investigator: Valérie Cormier-Daire, PUPH, Assistance Publique - Hôpitaux de Paris

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

November 1, 2007

Primary Completion (Actual)

July 1, 2011

Study Completion (Actual)

July 1, 2011

Study Registration Dates

First Submitted

July 28, 2009

First Submitted That Met QC Criteria

July 28, 2009

First Posted (Estimate)

July 29, 2009

Study Record Updates

Last Update Posted (Estimate)

December 13, 2011

Last Update Submitted That Met QC Criteria

December 12, 2011

Last Verified

June 1, 2011

More Information

Terms related to this study

Keywords

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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