Chest Wall DeformityNCT04448574
Chest Wall Deformities in Children - Epidemiological Data
An observational study of Chest Wall Deformity and Funnel Chest, run by Universitätsklinikum Hamburg-Eppendorf at 2 sites in Germany.
Trial summary
Pectus excavatum (PE) or funnel breast is the most common congenital deformity of the chest wall, which occurs in about 1 in 400 births with a boy to girl ratio of 4: 1 to 3: 1. The etiology of PE is largely undefined, but there are numerous indications that genetic factors play a role in the development of PE. Read more about this study
- Who is it for?
- Ages 6 to 30 years
- Conditions the study is for
- Chest Wall Deformity, Funnel Chest
- What is being tested?
- Chest Wall Deformities Questionaire
- How many people
- 96 participants
- Where
- 2 sitesGermany
- Study dates
- 1 Sep 2019to 1 Jun 2020
- 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 6 to 30 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: All patients who presented themselves in the study hospitals with the diagnosis of a chest wall deformity (funnel breast, keel breast, sternum cleft)
Who may be able to join
- . All patients who are in the Altona Children's Hospital or in the University Hospital Hamburg. Funnel breast, keel breast, sternal cleft
- . A signed declaration of consent from the parents or legal guardians is available
- . The patient has given a declaration of consent
Who cannot join
- Confirmation of another diagnosis associated with chest wall deformities:
- Marfan syndrome
- Noonan syndrome
- Poland syndrome
- Moebius syndrome
- Cantrell Pentalogy
- PHACE association
Trial locations and contacts
2 sites in 1 country.
Germany2 sites
University Hospital Hamburg Eppendorf - Department of pediatric surgery
Hamburg, 20246
The Altona Children's Hospital
Hamburg, 22763
About this study
Pectus excavatum (PE) or funnel breast is the most common congenital deformity of the chest wall, which occurs in about 1 in 400 births with a boy to girl ratio of 4: 1 to 3: 1. The etiology of PE is largely undefined, but there are numerous indications that genetic factors play a role in the development of PE. Up to 40% of patients report affected family members with similar congenital deformities. In many families, PE follows a pattern that would be compatible with an autosomal dominant or recessive pattern of inheritance. The data on the frequent occurrence of PE in family members fluctuate greatly and only a few genes associated with a PE have been identified so far.
Read the detailed description
Previous studies suggest that sulfation of proteoglycans plays a crucial role in the normal development of cartilage and bone and could therefore be crucial in the genesis of the disease. The main catalytic machinery responsible for the biosynthesis and breakage of sulfate esters in the proteoglycans consists of various enzymes and transporters. Mutations in Sphingosine Kinase 1 (SK1) and Sphingosine Kinase 2 (SK2) genes that encode the transmembrane transporters of sulfate or enzymes that are involved in 3'-phosphoadenosine 5'-phosphosulfate (PAPS) synthesis have been identified as the cause of several inherited diseases that all have skeletal system deformities.
Connections between chest wall deformities with syndromes (e.g. Marfan, Noonan), anomalies (e.g. Poland, Moebius) or associations (e.g. Cantrell Pentalogy, PHACE) are well known. In contrast, there have so far been hardly any genetic studies of the isolated congenital chest wall deformities. Epidemiological data are insufficient and only a few groups deal with the inheritance and the incidence of this disease when it occurs in isolation.
- Conditions
- Chest Wall Deformity, Funnel Chest
- Being tested
- Chest Wall Deformities Questionaire
- Medical subject headings
- Funnel Chest
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Chest Wall Deformities QuestionaireOther
Questionaire about epidemiological data was sent to Patients and families
What is being measured
The primary outcome is the main question the study is designed to answer.
familial accumulation of breast wall deformities Questionnaire
Measured: Through study completion, an average of 1 year
Secondary outcomes (1)
Recording of clinical side effects on the familial accumulation of chest wall deformities
Measured: Through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jun 2020
- Study start1 Sep 2019
- Primary completion1 Jun 2020
- Study completion1 Jun 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Chest Wall DeformityStudies of the same condition, open and under way.
- 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
- Family based
- Time perspective
- Retrospective
- Enrolment
- 96 participants (actual)
Sponsor and investigators
- Lead sponsor
- Universitätsklinikum Hamburg-Eppendorf
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Dr. med. Julian Trah, Universitätsklinikum Hamburg-Eppendorf
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04448574
- Sponsor's protocol ID
- CWD2019
- Status last verified
- Dec 2021
- First submitted
- 24 Jun 2020
- Last updated
- 7 Dec 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Dec 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Chest Wall Deformities in Children - Epidemiological Data
- ClinicalTrials.gov ID
- NCT04448574
- Acronym / sponsor ID
- CWD2019
- Conditions
- Chest Wall Deformity, Funnel Chest
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 96 participants (actual)
- Lead sponsor
- Universitätsklinikum Hamburg-EppendorfUniversity, hospital or other
- Study start
- 1 Sep 2019 (actual)
- Primary completion
- 1 Jun 2020 (actual)
- Study completion
- 1 Jun 2020 (actual)
- First posted
- 26 Jun 2020 (actual)
- 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.
Pectus excavatum (PE) or funnel breast is the most common congenital deformity of the chest wall, which occurs in about 1 in 400 births with a boy to girl ratio of 4: 1 to 3: 1. The etiology of PE is largely undefined, but there are numerous indications that genetic factors play a role in the development of PE. Up to 40% of patients report affected family members with similar congenital deformities. In many families, PE follows a pattern that would be compatible with an autosomal dominant or recessive pattern of inheritance. The data on the frequent occurrence of PE in family members fluctuate greatly and only a few genes associated with a PE have been identified so far.
Detailed description
Previous studies suggest that sulfation of proteoglycans plays a crucial role in the normal development of cartilage and bone and could therefore be crucial in the genesis of the disease. The main catalytic machinery responsible for the biosynthesis and breakage of sulfate esters in the proteoglycans consists of various enzymes and transporters. Mutations in Sphingosine Kinase 1 (SK1) and Sphingosine Kinase 2 (SK2) genes that encode the transmembrane transporters of sulfate or enzymes that are involved in 3'-phosphoadenosine 5'-phosphosulfate (PAPS) synthesis have been identified as the cause of several inherited diseases that all have skeletal system deformities.
Connections between chest wall deformities with syndromes (e.g. Marfan, Noonan), anomalies (e.g. Poland, Moebius) or associations (e.g. Cantrell Pentalogy, PHACE) are well known. In contrast, there have so far been hardly any genetic studies of the isolated congenital chest wall deformities. Epidemiological data are insufficient and only a few groups deal with the inheritance and the incidence of this disease when it occurs in isolation.
Study design
- Observational model
- Family based
- Time perspective
- Retrospective
Who may qualify
- Ages
- 6 to 30 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- All patients who presented themselves in the study hospitals with the diagnosis of a chest wall deformity (funnel breast, keel breast, sternum cleft)
Key inclusion criteria (3 listed)
- . All patients who are in the Altona Children's Hospital or in the University Hospital Hamburg. Funnel breast, keel breast, sternal cleft
- . A signed declaration of consent from the parents or legal guardians is available
- . The patient has given a declaration of consent
Key exclusion criteria (7 listed)
- Confirmation of another diagnosis associated with chest wall deformities:
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 |
|---|---|---|
| Chest Wall Deformities QuestionaireQuestionaire about epidemiological data was sent to Patients and families | Other | – |
Primary outcome
familial accumulation of breast wall deformities Questionnaire
Time frame: Through study completion, an average of 1 year
1 secondary outcome
Recording of clinical side effects on the familial accumulation of chest wall deformities
Time frame: Through study completion, an average of 1 year
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 7 Dec 2021.
- Individual participant dataSharing planned: No
Related trials for Chest Wall Deformity
RecruitingObservational study
Prospective Evaluation of Anterior Aesthetic Rib Cage Remodeling With Osteosynthesis for Lower Anterior Thoracic Prominence
Chest Wall Deformity, Prominent Lower Rib Cage
Not yet recruiting
HFCWO in Children With Non-CF Bronchiectasis
Non Cystic Fibrosis Bronchiectasis
Not yet recruiting
Effects of High-Frequency Chest Wall Oscillation Combined With Concurrent Training on Cough,in Cystic Fibrosis Patients
Cystic Fibrosis
RecruitingObservational study
Strength Tracking From Wall Tichness Over Aortic Biomechanics (STORM)
Aneurysm Aortic, Aneurysm Aortic Root
Active, not recruitingObservational study
Sagittal Spine Balance in Patients With Chest Wall Deformity
Scoliosis Idiopathic Adolescent, Chest Deformities
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.
The record lists no contact. Use the official record to reach the sponsor.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Chest Wall Deformity and Funnel Chest, run by Universitätsklinikum Hamburg-Eppendorf at 2 sites in Germany.
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 3 inclusion and 7 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 7 Dec 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Germany. 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?
familial accumulation of breast wall deformities Questionnaire (time frame: Through study completion, an average of 1 year). 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 7 Dec 2021.