Trial record 1 of 1 for:    "Ellis-van Creveld syndrome"
Previous Study | Return to List | Next Study

Natural History of Asphyxiating Thoracic Dystrophy (DTJ)

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier:
NCT00948376
First received: July 28, 2009
Last updated: December 12, 2011
Last verified: June 2011
  Purpose

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.


Condition Intervention
Asphyxiating Thoracic Dystrophy
Genetic: IFT80 screening

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Clinical and Molecular Study, Natural History of Asphyxiating Thoracic Dystrophy (DTJ)

Resource links provided by NLM:


Further study details as provided by Assistance Publique - Hôpitaux de Paris:

Primary Outcome Measures:
  • Natural history of asphyxiating thoracic dystrophy (ATD) [ Time Frame: 3 years ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Correlation Phenotype-Genotype [ Time Frame: 3 years ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

phenotype-genotype


Enrollment: 50
Study Start Date: November 2007
Study Completion Date: July 2011
Primary Completion Date: July 2011 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Patients
All ages
Genetic: IFT80 screening
Natural History
Other Name: Natural History
Fetuses Genetic: IFT80 screening
Natural History
Other Name: Natural History

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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Patients with:

  • Short ribs with narrow thorax
  • Trident acetabular roof
  • Short hands
Criteria

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00948376

Locations
France
Hopital Necker
Paris, France, 75013
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: Valérie Cormier-Daire, PUPH Assistance Publique - Hôpitaux de Paris
  More Information

No publications provided

Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT00948376     History of Changes
Other Study ID Numbers: P060223
Study First Received: July 28, 2009
Last Updated: December 12, 2011
Health Authority: France: Ministry of Health

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Natural history
IFT80
short ribs
multivisceral involvement

Additional relevant MeSH terms:
Ellis-Van Creveld Syndrome
Osteochondrodysplasias
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Ectodermal Dysplasia
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases

ClinicalTrials.gov processed this record on August 20, 2014