Symptoms and General Pathology

All Conditions

Neoplasms

Musculoskeletal Diseases

Diseases and Abnormalities at or Before Birth

Skin and Connective Tissue Diseases

Nutritional and Metabolic Diseases

Rare Diseases

Osteochondroma

Exostoses, Multiple Hereditary

Osteochondromatosis

Osteogenesis Imperfecta

Enchondromatosis

Exostoses

Osteophyte

Osteochondrodysplasias

Mucopolysaccharidosis IV

Bone Diseases

Bone Diseases, Developmental

Genetic Diseases, Inborn

Rheumatic Diseases

Collagen Diseases

Connective Tissue Diseases

Neoplasms, Bone Tissue

Neoplasms, Connective Tissue

Neoplasms, Connective and Soft Tissue

Neoplasms by Histologic Type

Hyperostosis

Syndrome

Neoplastic Syndromes, Hereditary

Ollier Disease

Mucopolysaccharidosis Type IV

* Sailing activity (4 h/die)
* Stretching exercises pre and post-sailing activity
* Post-activity debriefing

5-day sailing activity

Luca Sangiorgi, MD, PhD

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.

Rare skeletal diseases represent a significant global health burden, affecting millions of people worldwide. These chronic, debilitating conditions necessitate the development of optimized clinical pathways and comprehensive support systems.

Adventure therapy (AT) has emerged as a promising intervention for individuals with chronic conditions, demonstrating improvements in self-esteem, autonomy, and social skills. Sailing, a form of AT, offers opportunities for physical activity, social inclusion, and emotional well-being in individuals with disabilities.

This study aims to assess the feasibility of using sailing as an occupational therapy intervention for patients with rare skeletal diseases. We hypothesize that sailing can enhance physical, cognitive, and social functioning in this patient population.

A pilot program of sailing lessons for patients with rare skeletal diseases will be conducted. Participants will undergo assessments of physical, cognitive, and social skills before and after the intervention.

This study will be the first to explore the use of sailing-based AT for this patient population. The findings will inform the development of larger-scale studies and contribute to the optimization of rehabilitation programs for this patient population.

Ready to Sail: Evaluating Sailing's Feasibility as Ergotherapy

Pronti A Salpare: Studio di fattibilità Sull'Impatto Della Vela Come Ergoterapia in Pazienti Con Malattie Rare Scheletriche - Ready to Sail: Evaluating Sailing's Feasibility as Ergotherapy for Rare Skeletal Diseases

EuroQol 5-Dimension (EQ-5D) instrument offers valuable information about patient-reported health status. EQ-5D assesses health status in terms of five dimensions of health, mobility, self-care, usual activities, pain/discomfort, and anxiety/depression, and with EQ-5D visual analogue scale. It is considered a 'generic' questionnaire because these dimensions are not specific to any one patient group or health condition.

The World Health Organisation Disability Assessment Schedule (WHODAS 2.0) is a standardized method for measuring health and disability by assessing the same individual before and after the intervention. WHODAS 2.0 is a 36-item questionnaire and captures the level of functioning in six domains of life: Cognition - understanding and communicating, Mobility - moving and getting around, Self-care - attending to one's hygiene, dressing, eating and staying alone, Getting along - interacting with other people, Life activities - domestic responsibilities, leisure, work and school, Participation - joining in community activities, participating in society.

Rosenberg Self-Esteem Scale: 10-item scales, ranging from 0-30. Scores between 15 and 25 are within normal range; scores below 15 suggest low self-esteem.

Rosenberg Self-Esteem Scale is a 10-item scale that assesses the self-esteem, ranging from 0-30. Scores between 15 and 25 are within normal range; scores below 15 suggest low self-esteem.

Performance Oriented Mobility Assesment (Tinetti Balance Scale) is an administered 16-item task-oriented test that measures gait and balance abilities, it uses a 3-point ordinal scale of 0, 1 and 2. Gait is scored over 12 and balance is scored over 16 totalling 28.

Berg Balance Scale is a 14-item objective measure that assesses static balance and fall risk, item-level scores range from 0-4, determined by ability to perform the assessed activity, the item scores are then summed with a maximum of 56.

Tampa Scale is a self-reported questionnaire that quantifies fear of movement, or (re)injury, it uses a 4-point Likert scale (Strongly Disagree-Disagree-Agree-Strongly Agree) with statements that have been later linked to the model of fear-avoidance, fear of work-related activities, fear of movement, and fear of re-injury.

Clinical Outcomes in Routine Evaluation-Outcome Measure (CORE-OM) is a self-report measure of psychological distress designed to be administered during a course of treatment to determine treatment response. It compries 34 questions about how the participants have been feeling over the last week, using a 5-point scale. The scale covers four dimensions: Subjective well-being, Problems/symptoms, Life functioning, and Risk/harm.

Pediatric Outcomes Data Collection (PODCI) evaluates functional health status through an 83-item questionnaire, and consists of scores on seven core scales, four encompassing physical function and three assessing psychological well-being.

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization	Link
Ready to Sail: Evaluating Sailing's Feasibility as Ergotherapy	NCT06397443	Multiple Osteoc... Ollier Disease Osteogenesis Im...	5-day sailing a...	12 Years -	Istituto Ortopedico Rizzoli
Ready to Sail: Evaluating Sailing's Feasibility as Ergotherapy	NCT06397443	Multiple Osteoc... Ollier Disease Osteogenesis Im...	5-day sailing a...	12 Years -	Istituto Ortopedico Rizzoli

Spots Global Cancer Trial Database for movement confidence