NGS Strategy Effectiveness in Molecular Diagnosis

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.

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Key information

Conditions

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

Sex eligibility

All sexes

Study type

Observational

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Clinical diagnosis of Multiple Osteochondroma
Clinical diagnosis of Osteogenesis Imperfecta

Treatment and study plan

NGS molecular screening

Diagnostic Test

Primary outcomes

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.

Sponsors and collaborators

Lead sponsor

Istituto Ortopedico Rizzoli

Other

Collaborators

Catholic University of the Sacred Heart
Regione Emilia-Romagna

Registry information

Important dates

Study start: 2014
Primary completion: 2017
Study completion: 2017
First posted: Jun 15, 2018
Registry last updated: Jun 18, 2018

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed