Genotyping and phenotyping of skeletal deformities in patients with Osteogenesis Imperfecta
- Conditions
- Osteogenesis Imperfecta
- Registration Number
- NL-OMON23070
- Lead Sponsor
- Isala, Zwolle
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Pending
- Sex
- Not specified
- Target Recruitment
- 120
Inclusion Criteria
main inclusion criteria:
- Patients with confirmed Osteogenesis Imperfecta
- Adult (>18 years)
- Recent DEXA-scan ( < 3 years)
Exclusion Criteria
main exclusion criteria:
- Patients who have had a fracture at recent medical history (<2 years) at both distal radii and tibiae.
- Patients who have had a malignancy at recent medical history (<2 years), who have been treated with glucocorticoids less than 3 months ago, who have severe kidney disease (eGFR <30 ml/min) or who suffer from other metabolic diseases affecting bone.
- Female patients who are pregnant.
Study & Design
- Study Type
- Observational non invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method The main outcome parameters are volumetric BMD and tissue mineral density (TMD), cortical and trabecular microarchitecture, and strength of the distal radius and tibia assessed with HR-pQCT. More specifically, BMD-parameters are determined for the total (Tt.BMD), cortical (Ct.BMD), and trabecular (Tb.BMD) bone and similar for TMD (Tt.TMD, Ct.TMD, and Tb.TMD, respectively). Microarchitecture parameters include trabecular bone volume fraction, number, thickness and separation (Tb.BV/TV, Tb.N, Tb.Th, and Tb.Sp, respectively) as well as cortical thickness (Ct.Po) and cortical porosity (Ct.Po). Parameters describing bone strength are estimated by means of micro-finite element (µFE-) models of the distal radius and tibia that are based on the HR-pQCT scans and include bone stiffness and failure load (FL). <br>The parameters will be obtained from the scans acquired with fixed and with length-dependent offset distance. For both scan protocols, the parameters will be averaged for each OI-type. <br>
- Secondary Outcome Measures
Name Time Method Secondary parameters include clinical characteristics of OI (wheelchair dependency, <br> scoliosis, bone deformity, hear loss, blue sclerae, medical history of fracture) and <br> causative genetic mutation. These parameters have been obtained for OI diagnosis <br> and are available at the OI Expertise Center. Patients have consented use of these <br> data for this study.