Multiple OsteochondromaNCT03557567
NGS Strategy Effectiveness in Molecular Diagnosis
An observational study of Multiple Osteochondroma and Osteogenesis Imperfecta, run by Istituto Ortopedico Rizzoli.
Trial summary
The coming out of Next Generation Sequencing (NGS) technologies, with documented advantages and reduced costs respect to Sanger sequencing, has provided new appealing approaches to diagnostic testing. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Multiple Osteochondroma, Osteogenesis Imperfecta
- What is being tested?
- NGS molecular screening
- How many people
- 400 participants
- Where
- No sites listed yet
- Study dates
- 29 Sep 2014to Sep 2017
- 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: A total of 400 DNA samples coming from MO and OI patients (including either dominant and recessive forms) will be included in the study (250 affected by MO and 150 by OI).
Who may be able to join
- Clinical diagnosis of Multiple Osteochondroma
- Clinical diagnosis of Osteogenesis Imperfecta
Who cannot join
None listed.
About this study
The coming out of Next Generation Sequencing (NGS) technologies, with documented advantages and reduced costs respect to Sanger sequencing, has provided new appealing approaches to diagnostic testing. Despite this, its use for routine diagnostic purposes requires certification in terms of reliability, as well as a cost-effectiveness evaluation.
To test the feasibility of using the Ion Torrent Personal Genome Machine (PGM) in clinical diagnosis, we assessed its performance to detect point mutations and big rearrangements previously identified with standard techniques. The diagnostic accuracy and the cost-effectiveness will be evaluated by Health Technology Assessment (HTA) analyses.
- Conditions
- Multiple Osteochondroma, Osteogenesis Imperfecta
- Being tested
- NGS molecular screening
- Medical subject headings
- Exostoses, Multiple Hereditary, Osteogenesis Imperfecta
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
NGS molecular screeningDiagnostic test
| Study group | Role | What they receive |
|---|---|---|
| MO patients | Not described Receives: Diagnostic Test: NGS molecular screening | |
| OI patients | Not described Receives: Diagnostic Test: NGS molecular screening |
What is being measured
The primary outcome is the main question the study is designed to answer.
Assessment of the accuracy of the Ion Torrent PGM platform for genetic variant detection (Diagnostic sensitivity evaluation)
The accuracy of the Ion Torrent Personal Genome (PGM) to identify disease-causing mutations in patients affected by Multiple Osteochondromas (MO) and Osteogenesis Imperfecta (OI) needs to be validated for its routine diagnostic clinical use. To asses this, we will compare results obtained with the new NGS approach with those previously obtained with standard techniques (DHPLC/Sanger + MLPA) in a number of MO and OI patients.
Measured: at 30 months
HTA analysis to assess the cost-effectiveness, organizational and social implications of a screening strategy based on the IonPGM platform
To demonstrate the pertinence in the use of this innovative technology in health care, we will examine the medical, social and economic implications according with Health Technology Assessment (HTA), a multi-disciplinary field of policy analysis applied to many different health care technologies before their diffusion and use. HTA aims at evaluating the real effectiveness of medical interventions, their proper use, access criteria and qualitative improvements, the clinical and organizational benefits, therefore suggesting how to manage, promote and discourage them.
Measured: at 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Jun 2018
- Study start29 Sep 2014
- Primary completionApr 2017
- Study completionSep 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Multiple OsteochondromaStudies 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
- Cohort
- Time perspective
- Other
- Enrolment
- 400 participants (actual)
Sponsor and investigators
- Lead sponsor
- Istituto Ortopedico Rizzoli
- Sponsor type
- University, hospital or other
- Collaborators
- Catholic University of the Sacred Heart, Regione Emilia-Romagna
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03557567
- Sponsor's protocol ID
- PRUA1GR-2013-00000177
- Status last verified
- Jun 2018
- First submitted
- 18 May 2018
- Last updated
- 18 Jun 2018
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: No plan
Study at a glance
From the registry record, last updated by the sponsor on 18 Jun 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- NGS Strategy Effectiveness in Molecular Diagnosis
- ClinicalTrials.gov ID
- NCT03557567
- Acronym / sponsor ID
- PRUA1GR-2013-00000177
- Conditions
- Multiple Osteochondroma, Osteogenesis Imperfecta
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 400 participants (actual)
- Lead sponsor
- Istituto Ortopedico RizzoliUniversity, hospital or other
- Collaborators
- Catholic University of the Sacred Heart, Regione Emilia-Romagna
- Study start
- 29 Sep 2014 (actual)
- Primary completion
- Apr 2017 (actual)
- Study completion
- Sep 2017 (actual)
- First posted
- 15 Jun 2018 (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.
The coming out of Next Generation Sequencing (NGS) technologies, with documented advantages and reduced costs respect to Sanger sequencing, has provided new appealing approaches to diagnostic testing. Despite this, its use for routine diagnostic purposes requires certification in terms of reliability, as well as a cost-effectiveness evaluation.
To test the feasibility of using the Ion Torrent Personal Genome Machine (PGM) in clinical diagnosis, we assessed its performance to detect point mutations and big rearrangements previously identified with standard techniques. The diagnostic accuracy and the cost-effectiveness will be evaluated by Health Technology Assessment (HTA) analyses.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| MO patients | – | Diagnostic Test: NGS molecular screening |
| OI patients | – | Diagnostic Test: NGS molecular screening |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- A total of 400 DNA samples coming from MO and OI patients (including either dominant and recessive forms) will be included in the study (250 affected by MO and 150 by OI).
Key inclusion criteria (2 listed)
- Clinical diagnosis of Multiple Osteochondroma
- Clinical diagnosis of Osteogenesis Imperfecta
Key exclusion criteria (0 listed)
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 |
|---|---|---|
| NGS molecular screening | Diagnostic test | MO patients, OI patients |
Primary outcome
Assessment of the accuracy of the Ion Torrent PGM platform for genetic variant detection (Diagnostic sensitivity evaluation)
Time frame: at 30 months
The accuracy of the Ion Torrent Personal Genome (PGM) to identify disease-causing mutations in patients affected by Multiple Osteochondromas (MO) and Osteogenesis Imperfecta (OI) needs to be validated for its routine diagnostic clinical use. To asses this, we will compare results obtained with the new NGS approach with those previously obtained with standard techniques (DHPLC/Sanger + MLPA) in a number of MO and OI patients.
HTA analysis to assess the cost-effectiveness, organizational and social implications of a screening strategy based on the IonPGM platform
Time frame: at 36 months
To demonstrate the pertinence in the use of this innovative technology in health care, we will examine the medical, social and economic implications according with Health Technology Assessment (HTA), a multi-disciplinary field of policy analysis applied to many different health care technologies before their diffusion and use. HTA aims at evaluating the real effectiveness of medical interventions, their proper use, access criteria and qualitative improvements, the clinical and organizational benefits, therefore suggesting how to manage, promote and discourage them.
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 18 Jun 2018.
- Individual participant dataSharing planned: No. No plan
Related trials for Multiple Osteochondroma
RecruitingObservational study
Descriptive Analysis of Surgeries in Patients With Multiple Osteochondromas
Multiple Osteochondroma
RecruitingObservational study
Functional and Morphological Characterization of Multiple Osteochondromas Disorder
Hereditary Multiple Osteochondromas
RecruitingObservational study
Registry of Multiple Osteochondromas
Multiple Osteochondromas
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.
Questions about this trial
What is this clinical trial studying?
An observational study of Multiple Osteochondroma and Osteogenesis Imperfecta, run by Istituto Ortopedico Rizzoli.
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 2 inclusion and 0 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 18 Jun 2018. Status can change between updates, so confirm with the study contact before making plans.
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?
Assessment of the accuracy of the Ion Torrent PGM platform for genetic variant detection (Diagnostic sensitivity evaluation) (time frame: at 30 months). The study lists 2 primary outcomes in all. 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 18 Jun 2018.