Clinical and Psychosocial Factors Associated With Physical Activity Level in Adults With Marfan Syndrome

Clinical and Psychosocial Factors Associated With Physical Activity Level in Adults With Marfan Syndrome: A Cross-Sectional Observational Study

Background. Marfan syndrome is a genetic connective tissue disorder with cardiovascular and musculoskeletal involvement. Despite clinical advances, many patients exhibit low levels of physical activity, influenced by clinical and psychosocial factors such as fear of exertion, fatigue, or pain. Physical activity behavior in this population remains insufficiently characterized.

Objective. To assess the level of physical activity in adults with Marfan syndrome and to identify the main associated clinical and psychosocial factors, in order to determine predictors of low physical activity.

Methods. An observational, analytical, cross-sectional study will be conducted. Adults with a diagnosis of Marfan syndrome will be included. The primary outcome will be physical activity level, assessed using the International Physical Activity Questionnaire-Short Form. The main independent variables will include kinesiophobia (Tampa Scale for Kinesiophobia), physical activity self-efficacy, perceived fatigue (Fatigue Severity Scale), musculoskeletal pain (Brief Pain Inventory-Short Form), and cardiovascular clinical factors. Potential confounders will include age, sex, body mass index, time since diagnosis, medical recommendations regarding exercise, and current pain. Descriptive analyses and a multivariable logistic regression model will be performed to identify independent predictors of low physical activity.

Expected results. To characterize the level of physical activity in adults with Marfan syndrome and to identify the clinical and psychosocial factors that independently predict low physical activity in this population.

Study Overview

• Status: Not yet recruiting
• Conditions: Marfan Syndrome
• Intervention / Treatment: Other: Adults with Marfan syndrome

• Study Type: Observational
• Enrollment (Estimated): 118

Contacts and Locations

• Study Contact: Name: Rubén Cuesta-Barriuso, PhD; Phone Number: 0034 985103386; Email: cuestaruben@uniovi.es

Study Locations

• Spain
  • Principality of Asturias
    • Oviedo, Principality of Asturias, Spain, 33006
      • Universidad de Oviedo
      • Contact: Rubén Cuesta-Barriuso; Phone Number: 607547274; Email: cuestaruben@uniovi.es

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Adults with Marfan syndrome

Description

Inclusion Criteria:

• Adults (≥18 years).
• A confirmed diagnosis of Marfan syndrome according to accepted clinical criteria used in routine follow-up.
• Ability to understand and complete an online questionnaire in Spanish.
• Access to the internet and an appropriate device to complete the survey.
• Provision of informed consent to participate in the study.

Exclusion Criteria:

• Patients with cognitive impairment or comprehension/literacy difficulties that preclude valid completion of the questionnaires.
• Who have experienced a major cardiovascular event or undergone recent cardiovascular/aortic surgery that substantially limits physical activity during the most recent reference period (e.g., within the past 3 months).
• With acute conditions or recent musculoskeletal injuries not attributable to Marfan syndrome that markedly restrict physical activity during the previous 7 days (the reference period of the IPAQ-SF).
• With incomplete questionnaires for essential variables (IPAQ-SF and/or main predictors)

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Observational group; Adults with a diagnosis of Marfan syndrome	Other: Adults with Marfan syndrome; Assessment of psychosocial and clinical factors potentially associated with engagement in physical activity, including kinesiophobia, physical activity self-efficacy, perceived fatigue, musculoskeletal pain, and cardiovascular clinical factors (aortic history and treatment)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Measurement of physical activity level	This variable will be assessed using the validated Spanish version of the International Physical Activity Questionnaire-Short Form (IPAQ-SF). The questionnaire records the frequency (days/week) and duration (minutes/day) of vigorous-intensity activities, moderate-intensity activities, and walking performed during the previous 7 days. Total physical activity will be expressed in MET-minutes per week, calculated according to the official IPAQ scoring protocol (8.0 METs for vigorous activity, 4.0 METs for moderate activity, and 3.3 METs for walking). In addition, physical activity level will be categorized as low, moderate, or high, based on the criteria established by the instrument.	Screening visit.

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Measurement of kinesiophobia (fear of movement or physical exertion)	This variable will be assessed using the Spanish validated version of the Tampa Scale for Kinesiophobia. The scale consists of 11 items with a 4-point Likert-type response format. Total scores range from 11 to 44, with higher scores indicating greater levels of kinesiophobia.	Screening visit
Measurement of physical activity self-efficacy	This variable will be assessed using the Physical Activity Self-Efficacy Scale, which consists of 10 items evaluating the individual's perceived confidence in maintaining exercise behavior in the presence of common barriers. The total score will be used as a continuous variable, with higher values indicating greater perceived self-efficacy.	Screening visit
Measurement of perceived fatigue	Perceived fatigue will be assessed using the Fatigue Severity Scale (FSS), which consists of 9 items rated on a scale from 1 (never) to 7 (always). The score will be expressed as the mean of the item responses. A mean score ≥ 4 will be considered indicative of clinically significant fatigue.	Screening visit
Measurement of musculoskeletal pain	This variable will be assessed using the Spanish version of the Brief Pain Inventory-Short Form (BPI-SF). The pain severity and pain interference subscales will be used, expressed as mean scores on a 0-10 scale, where higher values indicate greater pain intensity or functional interference due to pain.	Screening visit
Measurement of history of cardiovascular surgery	This cardiovascular clinical factor will be recorded as a dichotomous variable (Yes/No).	Screening visit
Measurement of history of aortic dissection	This cardiovascular clinical factor will be recorded as a dichotomous variable (Yes/No).	Screening visit
Measurement of current cardiovascular treatment	This cardiovascular clinical factor will be recorded as a dichotomous variable (Yes/No).	Screening visit
Measurement of presence of current or stable aortic pathology	This cardiovascular clinical factor will be recorded as an ordinal variable (Yes/No/Unknown).	Screening visit

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Measurement of age	This variable, considered a potential confounder or moderator, will be measured as a quantitative variable (years).	Screening visit
Measurement of gender	This variable, considered a potential confounder or moderator, will be measured as a qualitative variable (male/female).	Screening visit
Measurement of body mass index	This variable, considered a potential confounder or moderator, will be measured as a quantitative variable calculated from body weight (kg) and height (m).	Screening visit
Measurement of time since diagnosis of Marfan syndrome	This variable, considered a potential confounder or moderator, will be measured as a quantitative variable (years).	Screening visit
Measurement of current medical recommendation regarding physical exercise	This variable, considered a potential confounder or moderator, will be measured as an ordinal categorical variable (restricted / unrestricted / unknown).	Screening visit
Measurement of current pain	This variable, considered a potential confounder or moderator, will be measured as a quantitative variable using a numerical rating scale (NRS 0-10). This measure is already included in the BPI-SF and will be used solely as a descriptive control variable	Screening visit

Collaborators and Investigators

• Sponsor: University of Oviedo

Study record dates

Study Major Dates

• Study Start (Estimated): February 22, 2026
• Primary Completion (Estimated): April 13, 2026
• Study Completion (Estimated): May 26, 2026

Study Registration Dates

• First Submitted: February 11, 2026
• First Submitted That Met QC Criteria: February 11, 2026
• First Posted (Actual): February 19, 2026

Study Record Updates

• Last Update Posted (Actual): February 19, 2026
• Last Update Submitted That Met QC Criteria: February 11, 2026
• Last Verified: February 1, 2026

More Information

Terms related to this study

• Keywords: Exercise; Pain; Fatigue; Marfan syndrome; Kinesiophobia; Motor activity; Self efficacy
• Additional Relevant MeSH Terms: Neurologic Manifestations; Bone Diseases; Musculoskeletal Diseases; Cardiovascular Diseases; Mental Disorders; Heart Diseases; Genetic Diseases, Inborn; Connective Tissue Diseases; Congenital Abnormalities; Cardiovascular Abnormalities; Heart Defects, Congenital; Abnormalities, Multiple; Bone Diseases, Developmental; Phobic Disorders; Anxiety Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Behavior; Skin and Connective Tissue Diseases; Signs and Symptoms; Kinesiophobia; Pain; Fatigue; Marfan Syndrome; Motor Activity; Amino Acids, Peptides, and Proteins; Proteins; Carbohydrates; Glycoproteins; Glycoconjugates; Extracellular Matrix Proteins; Scleroproteins; Fibrillins
• Other Study ID Numbers: ActMarf

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No