View clinical trials related to Exostoses, Multiple Hereditary.
Filter by:Background Individuals with rare skeletal disorders frequently experience psychological distress, social isolation, unmet needs, and significant challenges due to limited treatment options. Adventure Therapy, employing exposure to natural environments, has shown promise in improving self-esteem, autonomy, and social skills in chronic illness and disability populations. This pilot study explores the feasibility and preliminary efficacy of a sailing-based intervention for enhancing physical, social, and psychological well-being in this specific population. Outcome Measures The primary outcome is to investigates the feasibility of sailing to improve well-being and quality of life in patients living with rare skeletal disorders. Furthermore, the investigators hypothesize that participation in a sailing program led by occupational therapists will lead to improvements in: - Movement confidence: assessing whether sailing enhances participants' ability to move and perform daily activities. - Mental health: evaluating if sailing reduces anxiety and fear and promotes self-esteem. - Social interaction: exploring if sailing fosters social connection and reduces feelings of isolation. Methods The study will use a prospective, single-arm, longitudinal design. Eight participants with rare skeletal disorders will be enrolled in a 5-day sailing-based occupational therapy intervention. Comprehensive pre- and post-intervention assessments will measure psychosocial factors, quality of life, functional mobility, kinesiophobia, and body segment movement using questionnaires and functional scales.
the purpose of the present registry is to describe the epidemiology of forearm deformities in patients with Hereditary Multiple Exostoses and to identify, independent predictors of severity of the disease and potential association with genotypic patterns
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.
REM is a retrospective and prospective registry, finalized to care and research. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc.. This approach has been individuated in order to corroborate and integrate data from different resources and aspects of the diseases and to correlate genetic background and phenotypic outcomes, in order to better investigate diseases pathophysiology.
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.
This is a randomized, double-blind, placebo-controlled study comparing the safety and efficacy of 2 dosage regimens of palovarotene versus placebo in preventing disease progression in pediatric subjects with multiple osteochondromas (MO).
The purpose of this study is to assess the health-related quality of life of subjects who have Hereditary Multiple Exostoses and to develop a disease specific quality of life survey. The investigators hypothesize that there are a wide range of quality of life experiences for patients with this syndrome.
The investigator's goal for this project is to examine the causes of the wide variability of the expression of Hereditary Multiple Exostoses (HME). Previous work completed by our group shows that there exists a correlation between genotype and phenotype such that certain mutations or affected genes cause certain patterns of presentation, symptoms, and signs. The investigators intend to achieve this goal by increasing our study sample size to build upon the results generated from the pilot project of this study, in order to obtain statistical significance. This will be achieved by performing genotype-phenotype analysis on new families presenting with HME in British Columbia.
The purpose of this study is to establish the genetic profile of families in British Columbia with HME.