Genotyping and phenotyping of skeletal deformities in patients with Osteogenesis Imperfecta

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON23070

Enrollment

120

Registered

2020-12-21

Start date

2021-03-01

Completion date

Unknown

Last updated

2025-03-24

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Osteogenesis Imperfecta

Interventions

None listed

Eligibility

Inclusion criteria

Inclusion criteria: main inclusion criteria: - Patients with confirmed Osteogenesis Imperfecta - Adult (>18 years) - Recent DEXA-scan ( < 3 years)

Exclusion criteria

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.

Design outcomes

Primary

Measure	Time frame
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). 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.	—

Measure

Time frame

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). 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.

—

Secondary

Measure	Time frame
Secondary parameters include clinical characteristics of OI (wheelchair dependency, scoliosis, bone deformity, hear loss, blue sclerae, medical history of fracture) and causative genetic mutation. These parameters have been obtained for OI diagnosis and are available at the OI Expertise Center. Patients have consented use of these data for this study.	—

Contacts

Public ContactRoelina . Munnik

Isala, Zwolle

r.munnik@isala.nl+31384245375

Outcome results