Ready to Sail 2: A Pilot Study of Sail-Assisted Telerehabilitation in Rare Skeletal Diseases

Pilot Study "Ready to Sail 2": Evaluation of the Feasibility and Safety of Sail-Assisted Telerehabilitation in Patients With Rare Skeletal Diseases - Assessment of Motor, Psychosocial, and Quality of Life Outcomes

"Ready to Sail 2 - EXTEND" is a pilot randomized interventional trial designed to assess the feasibility, safety, and preliminary impact of an innovative rehabilitation model combining sailing therapy (velatherapy) with a remote telerehabilitation maintenance program in young individuals with rare skeletal disorders. Building on the promising results of the previous Ready to Sail feasibility study (NCT06397443), this study aims to validate and compare two rehabilitative approaches.

A total of 24 patients aged 12-30 years with a confirmed diagnosis of a rare skeletal disorder will be randomly assigned (1:1) to either:

• Group 1 (Experimental): a 5-day intensive sailing therapy intervention followed by a 3-month personalized telerehabilitation program at home; or
• Group 2 (Active Control): a 3-month telerehabilitation-only program with identical frequency and progression.

The primary objective is to evaluate the feasibility of the experimental program, in terms of adherence, acceptability, and safety. Secondary outcomes include motor functionality (measured by inertial sensors), psychosocial well-being (assessed through validated PROMs), health-related quality of life, and pain perception. The study also explores the medium-term sustainability of rehabilitation outcomes and the influence of individual variables (e.g., age, gender, disease subtype).

The intervention is delivered through a multidisciplinary, patient-centered approach involving rare disease experts, physiatrists, biomechanical engineers, and partner sailing organizations. Sail training activities are adapted for safety and inclusion, and are conducted in two coastal settings (Marina di Ravenna and Palermo), ensuring geographical balance for participant accessibility.

This trial seeks to strengthen the evidence base for integrated, inclusive, and scalable rehabilitation models that address both motor and psychosocial dimensions in rare skeletal conditions.

Inclusion Criteria:

• Individuals aged 12 to 30 years, of any sex
• Clinical and/or molecular genetic diagnosis of RSD per Orphanet classification
• No orthopedic surgery within the past 6 months, unless deemed clinically irrelevant to study participation by the investigator
• Ability to understand and comply with study procedures
• Signed informed consent obtained from the participant or a legal guardian (for minors)

Exclusion Criteria:

• Severe or unstable medical conditions that could interfere with participation (e.g., uncontrolled cardiac or respiratory disease)
• Cognitive or neurological impairments that may hinder adherence to the study protocol
• Participation in similar intensive rehabilitation programs within the past 3 months
• Contraindications to virtual or sailing-based activities, including but not limited to: (a) Severe motion sickness; (b) Vertigo or vestibular disorders; (c) Photosensitive epilepsy
• Musculoskeletal injuries (e.g., fractures or major sprains) occurring within the past 12 months
• Any condition or circumstance that, in the opinion of the investigator, may compromise safety or study compliance
• Decline or inability to provide informed consent