Asphyxiating Thoracic DystrophyDTJNCT00948376
Natural History of Asphyxiating Thoracic Dystrophy (DTJ)
An observational study of Asphyxiating Thoracic Dystrophy, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Asphyxiating Thoracic Dystrophy
- What is being tested?
- IFT80 screening
- How many people
- 50 participants
- Where
- 1 siteFrance
- Study dates
- Nov 2007to Jul 2011
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with: * Short ribs with narrow thorax * Trident acetabular roof * Short hands
Who may be able to join
- Short ribs with narrow thorax
- Trident acetabular roof
- Short hands
- All ages
- Informed consent signed
Who cannot join
- Other disease
- Ellis van creveld syndrome
- No social security
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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.
Read the 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.
- Conditions
- Asphyxiating Thoracic Dystrophy
- Being tested
- IFT80 screening
- Keywords
- Natural history, IFT80, short ribs, multivisceral involvement
- Medical subject headings
- Jeune syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
IFT80 screeningGenetic
Also called Natural History
Natural History
| Study group | Role | What they receive |
|---|---|---|
| Patients | All ages Receives: Genetic: IFT80 screening | |
| Fetuses | Not described Receives: Genetic: IFT80 screening |
What is being measured
The primary outcome is the main question the study is designed to answer.
Natural history of asphyxiating thoracic dystrophy (ATD)
Measured: 3 years
Secondary outcomes (1)
Correlation Phenotype-Genotype
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Jul 2009 (estimated)
- Study startNov 2007
- Primary completionJul 2011
- Study completionJul 2011
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Asphyxiating Thoracic DystrophyStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 50 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Valérie Cormier-Daire, PUPH, Principal investigator, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00948376
- Sponsor's protocol ID
- P060223
- Acronym
- DTJ
- Status last verified
- Jun 2011
- First submitted
- 28 Jul 2009
- Last updated
- 13 Dec 2011
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Dec 2011. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Molecular Study, Natural History of Asphyxiating Thoracic Dystrophy (DTJ)
- ClinicalTrials.gov ID
- NCT00948376
- Acronym / sponsor ID
- DTJ / P060223
- Conditions
- Asphyxiating Thoracic Dystrophy
- Keywords
- Natural history, IFT80, short ribs, multivisceral involvement
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 50 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- Nov 2007
- Primary completion
- Jul 2011 (actual)
- Study completion
- Jul 2011 (actual)
- First posted
- 29 Jul 2009 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients | – | Genetic: IFT80 screeningAll ages |
| Fetuses | – | Genetic: IFT80 screening |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with: * Short ribs with narrow thorax * Trident acetabular roof * Short hands
Key inclusion criteria (5 listed)
- Short ribs with narrow thorax
- Trident acetabular roof
- Short hands
- All ages
- Informed consent signed
Key exclusion criteria (3 listed)
- Other disease
- Ellis van creveld syndrome
- No social security
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| IFT80 screeningAlso: Natural HistoryNatural History | Genetic | Fetuses, Patients |
Primary outcome
Natural history of asphyxiating thoracic dystrophy (ATD)
Time frame: 3 years
1 secondary outcome
Correlation Phenotype-Genotype
Time frame: 3 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Dec 2011.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Valérie Cormier-Daire, PUPH principal investigator
Assistance Publique - Hôpitaux de Paris
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Asphyxiating Thoracic Dystrophy, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 13 Dec 2011. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Natural history of asphyxiating thoracic dystrophy (ATD) (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Dec 2011.