Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
COMPLETED
400 participants
OBSERVATIONAL
2014-09-29
2017-09-30
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
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.
Related Clinical Trials
Explore similar clinical trials based on study characteristics and research focus.
Rapid Genetic Diagnosis Employing Next Generation Sequencing for Critical Illness in Infants and Children
NCT03175692
N-Care Project: Enhancing Asian-Pacific Collaboration
NCT06821386
Construction of the "Patient-Centered"Molecular Pathology Diagnostic Center
NCT01311388
Automatic Early Melanoma Detection by Ultrahigh Resolution Three Dimensional Optical Coherence Tomography
NCT02335476
Genomic Study of Congenital Malformation
NCT01250613
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
COHORT
OTHER
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
MO patients
NGS molecular screening
OI patients
NGS molecular screening
Interventions
Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.
NGS molecular screening
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
* Clinical diagnosis of Osteogenesis Imperfecta
ALL
No
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
Catholic University of the Sacred Heart
OTHER
Regione Emilia-Romagna
OTHER
Istituto Ortopedico Rizzoli
OTHER
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
PRUA1GR-2013-00000177
Identifier Type: -
Identifier Source: org_study_id
More Related Trials
Additional clinical trials that may be relevant based on similarity analysis.