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Multiple Osteochondroma clinical trials

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NCT ID: NCT04844697 Completed - Clinical trials for Osteogenesis Imperfecta

Resilience and Coping in a Rare Skeletal Disease Population to Face Coronavirus (COVID-19) Outbreak Distress: a Longitudinal Study

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Start date: May 12, 2021
Phase:
Study type: Observational

In the COVID-19 outbreak context, people living with rare diseases have been highly troubled with anxiety, loneliness, and depression. The project evaluates resilience and coping strategies to address pandemic impact by discussion in a dedicated focus group using a web-based platform. The goal is to improve, in a sustainable manner, the coping skills and psychological well-being of children, adolescents, and young adults affected by rare skeletal diseases.

NCT ID: NCT03557567 Completed - Clinical trials for Osteogenesis Imperfecta

NGS Strategy Effectiveness in Molecular Diagnosis

Start date: September 29, 2014
Phase:
Study type: Observational

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.