An Interventional Study to Evaluate the Impact of Blood Flow Restriction Training on Muscle, Bone, and Quality of Life in Adults With Osteogenesis Imperfecta Type I

Background: Due to fear of injury and risk of fractures, many people with osteogenesis imperfecta (OI) avoid vigorous exercise that is likely to improve muscle and bone weakness common in this disorder. Low-intensity muscle strength training with blood flow restriction (BFR-LI) via an inflatable cuff leads to similar improvements in muscle size and strength to conventional high-intensity strength training but has not been applied in OI.Objectives: To evaluate the effect of BFR-LI on muscle and bone health and quality of life in adults with OI type I.Methods: For this randomized controlled trial, 40 adults (18-65y) with OI type I will be recruited. Exclusion criteria include pregnancy or <6 months postpartum, deep vein thrombosis, acute fractures, recent surgery, regular vigorous exercise, or contraindications to exercise. Participants will be randomly assigned to perform BFR-LI or standard care. The BFR-LI group will perform home-based exercises 2-3 times/week for 12 weeks at low training intensity (20% of 1-repetition maximum) which will increase every 4 weeks. Muscle and bone parameters will be evaluated using scans (peripheral computed tomography and dual-energy x-ray absorptiometry) and muscle strength tests, and quality of life (mental well-being, participation, pain and fatigue) by the PROMIS questionnaire at baseline, immediately, three, and six months after training.

Study Overview

• Status: Recruiting
• Conditions: Osteogenesis Imperfecta, Type I
• Intervention / Treatment: Other: Blood flow restriction training

• Study Type: Interventional
• Enrollment (Estimated): 40
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Marie Coussens, PhD; Phone Number: +32 (0)9 332 69 24; Email: marie.coussens@ugent.be
• Study Contact Backup: Name: Patrick Calders, Prof.; Email: Patrick.Calders@ugent.be

Study Locations

• Belgium
  • Ghent, Belgium, 9000
    • Recruiting
    • Ghent University (Hospital) - department of endocrinology and department of rehabilitation sciences and physiotherapy
    • Contact: Patrick Calders, Prof.; Email: Patrick.Calders@ugent.be
    • Contact: Marie Coussens, PhD; Phone Number: +32 9 332 69 24; Email: marie.coussens@ugent.be
    • Sub-Investigator: Marie Coussens, PhD

Participation Criteria

Eligibility Criteria

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

Description

Inclusion Criteria:

• Osteogenesis imperfecta type I, aged between 18 and 65 years old

Exclusion Criteria:

• Lower limbs:

Edema; Recent surgery; Acute fractures

• Pregnancy/<6 months postpartum
• Deep vein thrombosis (now or history of)
• Cardiovascular, respiratory, or neuromuscular diseases
• Recent cardiovascular events/untreated hypertension
• Diseases affecting vascular function (e.g., diabetes)
• Vigorous strength training in year before study
• Other contraindications to perform exercise

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Training group	Other: Blood flow restriction training; The validated Smartcuffs PRO will be used. Maximal occlusion pressure (MOP), i.e., the pressure needed to fully occlude blood flow in the limb, is determined using a pulse pressor sensor while lying. 80% of the MOP is used for the training, achieving partial arterial occlusion and total venous occlusion. Resistance exercises (squats, hamstring curls, toe stands) are performed at 20% 1RM and in 4 sets (1x30, 1x15, 1x15, and 1x until failure). Participants will perform the 12-week training program from home, for 2-3x per week with a minimal 48-h interval between each session. After 12 weeks, they have the possibility to train for another 12 weeks (so 24 weeks in total). After each 4 weeks of training, 1RM estimates will be remeasured, to ensure progression of the training. Participants in the control group will have the option to switch to the training group after 6 months. They will be followed up for 6 months (same protocol as intervention group, though without the 9 month-follow-up).
No Intervention: Control group; Usual care (control group): this may consist of medication intake (e.g., bisphosphonates); physical therapy (low intensity strength training, mobility, coordination, physical activity programs and recommendations); nutritional support (balanced diet) or psychological support (counseling and physical activity counseling). After six months, participant can choose whether or not they join the intervention group or remain in the control group.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Muscle mass	Subtotal lean mass (whole body minus head; kg), lean mass of both legs, and arms (as control parameters that could assess any systemic effects of the training) will be measured by dual energy X-ray absorptiometry (DXA; Hologic QDR- Discovery device; software version 2.3.1; Hologic, Bedford, MA, USA).	Will be evaluated four times (at baseline, immediately, three, and six months after training (intervention group)/ 12 weeks of standard care (control group))

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Other muscle parameters: muscle strength measurements	Indirect 1RM measurements (via 20RM; dynamic muscle strength; kg) of quadriceps (squats), hamstrings (knee flexion), and calves (toe stands)	Will be evaluated four times (at baseline, immediately, three, and six months after training (intervention group)/ 12 weeks of standard care (control group))
Other muscle parameters: muscle strength measurements	Handheld dynamometry of quadriceps, hamstrings, and calves (isometric muscle strength; N).	Will be evaluated four times (at baseline, immediately, three, and six months after training (intervention group)/ 12 weeks of standard care (control group))
Other muscle parameters: muscle strength measurements	Peak power (kW) during the chair rise test, single two leg jumping, and heel rise test (mechanography; Leonardo Mechanograph; Novotec Medical Inc., Pforzheim, Germany; dynamic muscle strength).	Will be evaluated four times (at baseline, immediately, three, and six months after training (intervention group)/ 12 weeks of standard care (control group))
Bone parameters	Bone mass (bone mineral content, g) will be determined through whole body/lumbar spine/bilateral femoral neck DXA measurements and 3D shaper-software (3D-shaper Medical 2025).	Will be evaluated four times (at baseline, immediately, three, and six months after training (intervention group)/ 12 weeks of standard care (control group))
Bone parameters	Bone geometry (bone area, cm2) will be determined through whole body/lumbar spine/bilateral femoral neck DXA measurements and 3D shaper-software (3D-shaper Medical 2025).	Will be evaluated four times (at baseline, immediately, three, and six months after training (intervention group)/ 12 weeks of standard care (control group))
Bone parameters	Bone density (areal bone mineral density, g/cm2) will be determined through whole body/lumbar spine/bilateral femoral neck DXA measurements and 3D shaper-software (3D-shaper Medical 2025).	Will be evaluated four times (at baseline, immediately, three, and six months after training (intervention group)/ 12 weeks of standard care (control group))
Bone parameters	Estimates of bone strength (mm3) will be determined through whole body/lumbar spine/bilateral femoral neck DXA measurements and 3D shaper-software (3D-shaper Medical 2025).	Will be evaluated four times (at baseline, immediately, three, and six months after training (intervention group)/ 12 weeks of standard care (control group))
Quality of life	Different domains of quality of life will be measured using following aspects of the Patient-Reported Outcomes Measurement Information System (PROMIS), based on the recommendations of Nijhuis et al. (2021) for the comprehensive assessment of OI: (a) pain: PROMIS - pain interference and pain intensity subscales; (b) Fatigue: PROMIS - fatigue; (c) Emotional well-being: PROMIS - anxiety and depression subscales; (d) Participation: PROMIS - ability to participate in social roles and activities and PROMIS - satisfaction with social participation. Raw scores range from 8 to 40 and can be converted to T scores, except for (a) pain intensity of which the raw score ranges from 0 to 10. Higher scores on (a), (b), and (c) indicate higher pain interference/intensity, higher fatigue, and higher anxiety/depression levels, respectively. Higher scores on (d) indicate higher functional participation/satisfaction with social participation.	Will be evaluated four times (at baseline, immediately, three, and six months after training (intervention group)/ 12 weeks of standard care (control group))

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Feedback training	Participants will be asked for feedback on the training to optimize its implementation in future in clinical practice. We will do this by one-to-one semi-structured interviews. All interviews will be conducted face-to-face. Open-ended questions will be used to understand the experiences of the participants.	Immediately after finishing training
Physical activity	Physical activity will be measured through the International Physical Activity Questionnaire (IPAQ). This questionnaires measures activity in minutes/week and Metabolic Equivalent of Task (MET)-minutes/week. Based on MET-minutes/week, activities are categorized in light, moderate or vigorous activity. Scores (min/week for each activity, MET-min/week for each activity and total MET-min/week) range between zero and unlimited. The higher the scores, the more active the participant. Additionally, participants will be asked to report any changes in participation to vigorous exercise.	Will be evaluated four times (at baseline, immediately, three, and six months after training (intervention group)/ 12 weeks of standard care (control group))
Number of patients with changes in participation to exercise	Participants will be asked to report any changes in participation to vigorous exercise during the study	Will be evaluated four times (at baseline, immediately, three, and six months after training (intervention group)/ 12 weeks of standard care (control group))

Collaborators and Investigators

• Sponsor: University Hospital, Ghent
• Collaborators: University Ghent; Brittle Bone Society; Osteogenesis Imperfecta Federation
• Investigators: Principal Investigator: Charlotte Verroken, PhD, MD, University Hospital, Ghent

Study record dates

Study Major Dates

• Study Start (Actual): August 19, 2025
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026

Study Registration Dates

• First Submitted: July 14, 2025
• First Submitted That Met QC Criteria: March 12, 2026
• First Posted (Actual): March 17, 2026

Study Record Updates

• Last Update Posted (Actual): March 17, 2026
• Last Update Submitted That Met QC Criteria: March 12, 2026
• Last Verified: July 1, 2025

More Information

Terms related to this study

• Keywords: Exercise; Quality of life; Bone; Muscle; Blood flow restriction; Osteogenesis Imperfecta
• Additional Relevant MeSH Terms: Bone Diseases; Musculoskeletal Diseases; Genetic Diseases, Inborn; Connective Tissue Diseases; Osteochondrodysplasias; Bone Diseases, Developmental; Collagen Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Behavior; Skin and Connective Tissue Diseases; Osteogenesis Imperfecta; Motor Activity; Therapeutics; Physical Therapy Modalities; Patient Care; Exercise Therapy; Rehabilitation; Aftercare; Continuity of Patient Care; Blood Flow Restriction Therapy
• Other Study ID Numbers: ONZ-2024-0333

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