Translational therapy in patients with osteogenesis imperfecta - a pilot trial on treatment with the RANKL-antibody Denosumab

Phase 2

Conditions: Q78.0
Osteogenesis imperfecta

Registration Number: DRKS00004521

Lead Sponsor: Klinik und Poliklinik für Kinder- und Jugendmedizin

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Complete

Sex: All

Target Recruitment: 10

Inclusion Criteria

Male or female subjects between 5 years and 10 years of age with molecular proven Osteogenesis imperfecta (COL1A1/2 mutation)
Subjects must have been treated for a minimum of 2 years with i.v. bisphosphonates prior to study entry

Exclusion Criteria

Hypocalcemia (<1.03 mmol/l ionized Calcium)
Subjects with reduced renal function (estimated GFR (Schwartz formula) <30ml/min/1.73m2)
Any other abnormal finding such as physical examination or laboratory evaluation, in the opinion of the investigator that is indicative of a disease that would compromise the safety of the patient when getting Denosumab s.c.

Study & Design

Study Type: interventional

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Changes of areal bone mineral density (BMD [g/cm2]) in DXA of the lumbar spine in study week 48 after 36 weeks of treatment with Denosumab compared to baseline

Secondary Outcome Measures

Name	Time	Method
Decrease of osteoclastic activity measured by Deoxypyridinolin (DPD) every two weeks and changes of bone metabolism (Parathormone, N-Telopeptides, Osteocalcin) every 12 weeks.<br>Mobility of patients (Gross Motor Function Measurement score and 1 minute walking test) study week 0, 24, 48.<br>Skeletal pain (visual pain scale) study week -12, 0,12, 24, 36, 48.<br>Changes of areal bone mineral density of the whole body study week 0, 48<br>Morphometry of spine (Severity Score of the spine) study week 0, 48<br><br>