Osteogenesis Imperfecta, Type I
Conditions
Keywords
Blood flow restriction, Exercise, Osteogenesis Imperfecta, Muscle, Bone, Quality of life
Brief summary
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.
Interventions
OTHERBlood 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).
Sponsors
University Hospital, Ghent
Brittle Bone Society
Osteogenesis Imperfecta Federation
University Ghent
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
TREATMENT
Masking
NONE
Masking description
Baseline measurements: participants and outcome assessor are blinded to intervention at that moment. After these measurements, participants will be randomised in either intervention or control group. They can't be blinded given the nature of the study (blood flow restriction training).
Eligibility
Sex/Gender
ALL
Age
18 Years to 65 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Muscle mass | Will be evaluated four times (at baseline, immediately, three, and six months after training (intervention group)/ 12 weeks of standard care (control group)) | 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). |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Other muscle parameters: muscle strength measurements | Will be evaluated four times (at baseline, immediately, three, and six months after training (intervention group)/ 12 weeks of standard care (control group)) | Indirect 1RM measurements (via 20RM; dynamic muscle strength; kg) of quadriceps (squats), hamstrings (knee flexion), and calves (toe stands) |
| Bone parameters | Will be evaluated four times (at baseline, immediately, three, and six months after training (intervention group)/ 12 weeks of standard care (control group)) | 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). |
| Quality of life | Will be evaluated four times (at baseline, immediately, three, and six months after training (intervention group)/ 12 weeks of standard care (control group)) | 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. |
Countries
Belgium
Contacts
CONTACTMarie Coussens, PhD
CONTACTPatrick Calders, Prof.
PRINCIPAL_INVESTIGATORCharlotte Verroken, PhD, MD
University Hospital, Ghent
Outcome results
None listed