AchondroplasiaAchondroplasiaNCT04184817
Radiological Analysis on Patients With Achondroplasia Disorder
An observational study of Achondroplasia, run by Hospices Civils de Lyon at 1 site in France.
Trial summary
Achondroplasia is a genetic disorder characterized by disproportionate short stature. It affects about 1 in 2500 live births in the world. The cause of Achondroplasia was identified to be a gain-of-function mutations in the fibroblast growth receptor 3 (FGFR3). Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- Achondroplasia
- What is being tested?
- Collection of clinical data registered in Easily software
- How many people
- 60 participants
- Where
- 1 siteFrance
- Study dates
- 15 Feb 2020to Aug 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 Up to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Patients with Achondroplasia
Who may be able to join
- Boys and girls.
- Aged from 0 to 18 years old.
- Subjects with an Achondroplasia diagnosis.
- Patients or parents/ legal guardian must provide non opposition prior to participation in the study.
Who cannot join
- Patients or patient's parents or legal guardian whose have an objection for using their data.
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
Hôpital Femme-Mère-Enfant
Bron, 69500
Federico DI ROCCO, Pr, 4 72 35 75 72 ext. +33, federico.dirocco@chu-lyon.fr
About this study
Official title: Retrospective Clinical Study to Evaluate of Cranio-vertebral Abnormalities Through Radiological Analysis in Patients With Achondroplasia Treated/Followed at the Hôpital Femme Mère Enfant
Achondroplasia is a genetic disorder characterized by disproportionate short stature. It affects about 1 in 2500 live births in the world. The cause of Achondroplasia was identified to be a gain-of-function mutations in the fibroblast growth receptor 3 (FGFR3). In these children compression of the spinal cord at the foramen magnum stenosis can occur in early childhood which, can lead to central sleep apnea. It can lead to morbidity and mortality. A surgical intervention may be indicated in patients who present a foramen magnum stenosis. However, surgical indications are still under discussion. The objective of this retrospective study is to analyse the degree of stenosis and its clinical tolerance/evolution from radiological data monitored at the Hospital Femme Mère Enfant.
- Conditions
- Achondroplasia
- Being tested
- Collection of clinical data registered in Easily software
- Keywords
- Achondroplasia, cranio-vertebral abnormalities
- Medical subject headings
- Achondroplasia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Collection of clinical data registered in Easily softwareOther
Collection of clinical data registered in Easily software
| Study group | Role | What they receive |
|---|---|---|
| Medical data collection | The medical data of patients diagnosed by Achondroplasia will be collected. The radiological data will analyse to evaluate the severity of stenosis as well as its clinical tolerance and evolution. Receives: Other: Collection of clinical data registered in Easily software |
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluation of the degree of foramen magnum stenosis, its clinical tolerance and its evolution by radiological clinical data of the patients with Achondroplasia
All patients with Achondroplasia pathology followed at the Hôpital Femme Mère Enfant can be included in this study. The patients can present spinal column abnormalities such as foramen magnum stenosis. All patients diagnosed with Achondroplasia had the MRI. The MRI results will be used to evaluate the degree of deformity of stenosis and its clinical tolerance as well as its evolution. These results will help us to detect the compression at the foramen magnum to prevent lethal complications.
The endpoint choice of this retrospective study will be the MRI of the first visit and the last visit.
Measured: MRI results in children with Achondroplasia will be collected through study completion an average of 2 year.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Dec 2019
- Study start15 Feb 2020
- Primary completionAug 2020 (estimated)
- Study completionAug 2020 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for AchondroplasiaStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe 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
- Retrospective
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Federico DI ROCCO, Pr, Principal investigator, Hospices Civils de LyonMassimiliano Rossi, MD, Principal investigator, Hospices Civils de Lyon
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04184817
- Sponsor's protocol ID
- Achondroplasia_2019
- Acronym
- Achondroplasia
- Status last verified
- Nov 2019
- First submitted
- 25 Nov 2019
- Last updated
- 13 Jul 2020
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Jul 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Retrospective Clinical Study to Evaluate of Cranio-vertebral Abnormalities Through Radiological Analysis in Patients With Achondroplasia Treated/Followed at the Hôpital Femme Mère Enfant
- ClinicalTrials.gov ID
- NCT04184817
- Acronym / sponsor ID
- Achondroplasia / Achondroplasia_2019
- Conditions
- Achondroplasia
- Keywords
- Achondroplasia, cranio-vertebral abnormalities
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 15 Feb 2020 (actual)
- Primary completion
- Aug 2020 (estimated)
- Study completion
- Aug 2020 (estimated)
- First posted
- 4 Dec 2019 (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.
Achondroplasia is a genetic disorder characterized by disproportionate short stature. It affects about 1 in 2500 live births in the world. The cause of Achondroplasia was identified to be a gain-of-function mutations in the fibroblast growth receptor 3 (FGFR3). In these children compression of the spinal cord at the foramen magnum stenosis can occur in early childhood which, can lead to central sleep apnea. It can lead to morbidity and mortality. A surgical intervention may be indicated in patients who present a foramen magnum stenosis. However, surgical indications are still under discussion. The objective of this retrospective study is to analyse the degree of stenosis and its clinical tolerance/evolution from radiological data monitored at the Hospital Femme Mère Enfant.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Medical data collection | – | Other: Collection of clinical data registered in Easily softwareThe medical data of patients diagnosed by Achondroplasia will be collected. The radiological data will analyse to evaluate the severity of stenosis as well as its clinical tolerance and evolution. |
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Patients with Achondroplasia
Key inclusion criteria (4 listed)
- Boys and girls.
- Aged from 0 to 18 years old.
- Subjects with an Achondroplasia diagnosis.
- Patients or parents/ legal guardian must provide non opposition prior to participation in the study.
Key exclusion criteria (1 listed)
- Patients or patient's parents or legal guardian whose have an objection for using their data.
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 |
|---|---|---|
| Collection of clinical data registered in Easily softwareCollection of clinical data registered in Easily software | Other | Medical data collection |
Primary outcome
Evaluation of the degree of foramen magnum stenosis, its clinical tolerance and its evolution by radiological clinical data of the patients with Achondroplasia
Time frame: MRI results in children with Achondroplasia will be collected through study completion an average of 2 year.
All patients with Achondroplasia pathology followed at the Hôpital Femme Mère Enfant can be included in this study. The patients can present spinal column abnormalities such as foramen magnum stenosis. All patients diagnosed with Achondroplasia had the MRI. The MRI results will be used to evaluate the degree of deformity of stenosis and its clinical tolerance as well as its evolution. These results will help us to detect the compression at the foramen magnum to prevent lethal complications. The endpoint choice of this retrospective study will be the MRI of the first visit and the last visit.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Jul 2020.
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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.
Federico DI ROCCO, Pr principal investigator
Hospices Civils de Lyon
Massimiliano Rossi, MD principal investigator
Hospices Civils de Lyon
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 Achondroplasia, run by Hospices Civils de Lyon 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 4 inclusion and 1 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: status not confirmed, as of the sponsor's last update on 13 Jul 2020. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Federico DI ROCCO, Pr (4 72 35 75 72 ext. +33, federico.dirocco@chu-lyon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Evaluation of the degree of foramen magnum stenosis, its clinical tolerance and its evolution by radiological clinical data of the patients with Achondroplasia (time frame: MRI results in children with Achondroplasia will be collected through study completion an average of 2 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 13 Jul 2020.