NGS Strategy Effectiveness in Molecular Diagnosis

NCT03557567 | Completed

• 1 other identifier: PRUA1GR-2013-00000177
• Study Type: observational
• Target: 400
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Multiple Osteochondroma; Osteogenesis Imperfecta

Outcome Measures

Primary Outcomes (2)

• 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.

  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.

  at 36 months

Study Arms (2)

MO patients

Diagnostic Test: NGS molecular screening

OI patients

Diagnostic Test: NGS molecular screening

Interventions

NGS molecular screening DIAGNOSTIC_TEST

MO patients; OI patients

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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).

You may qualify if:

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

Sponsors & Collaborators

• Istituto Ortopedico Rizzoli: lead
• Catholic University of the Sacred Heart: collaborator
• Regione Emilia-Romagna: collaborator

Biospecimen

Retention: SAMPLES WITH DNA

whole blood

MeSH Terms

Conditions

Exostoses, Multiple Hereditary; Osteogenesis Imperfecta

Condition Hierarchy (Ancestors)

Osteochondromatosis; Osteochondroma; Neoplasms, Bone Tissue; Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplastic Syndromes, Hereditary; Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Exostoses; Hyperostosis; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 18, 2018
• First Posted: June 15, 2018
• Study Start: September 29, 2014
• Primary Completion: April 1, 2017
• Study Completion: September 1, 2017
• Last Updated: June 18, 2018

Record last verified: 2018-06

Data Sharing

• IPD Sharing: Will not share