Working... Menu

NGS Strategy Effectiveness in Molecular Diagnosis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT03557567
Recruitment Status : Completed
First Posted : June 15, 2018
Last Update Posted : June 18, 2018
Catholic University of the Sacred Heart
Regione Emilia-Romagna
Information provided by (Responsible Party):
Istituto Ortopedico Rizzoli

Brief 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. 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.

Condition or disease Intervention/treatment
Multiple Osteochondroma Osteogenesis Imperfecta Diagnostic Test: NGS molecular screening

Layout table for study information
Study Type : Observational
Actual Enrollment : 400 participants
Observational Model: Cohort
Time Perspective: Other
Actual Study Start Date : September 29, 2014
Actual Primary Completion Date : April 2017
Actual Study Completion Date : September 2017

Group/Cohort Intervention/treatment
MO patients Diagnostic Test: NGS molecular screening
OI patients Diagnostic Test: NGS molecular screening

Primary Outcome Measures :
  1. 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.

  2. 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.

Biospecimen Retention:   Samples With DNA
whole blood

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
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).

Inclusion Criteria:

  • Clinical diagnosis of Multiple Osteochondroma
  • Clinical diagnosis of Osteogenesis Imperfecta

Layout table for additonal information
Responsible Party: Istituto Ortopedico Rizzoli Identifier: NCT03557567     History of Changes
Other Study ID Numbers: PRUA1GR-2013-00000177
First Posted: June 15, 2018    Key Record Dates
Last Update Posted: June 18, 2018
Last Verified: June 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: No plan

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
Layout table for MeSH terms
Osteogenesis Imperfecta
Exostoses, Multiple Hereditary
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Genetic Diseases, Inborn
Collagen Diseases
Connective Tissue Diseases
Neoplasms, Bone Tissue
Neoplasms, Connective Tissue
Neoplasms, Connective and Soft Tissue
Neoplasms by Histologic Type
Neoplastic Syndromes, Hereditary