Universität zu Köln

Hoyer-Kuhn, Heike, Starke, Christina, Franklin, Jeremy ORCID: 0000-0003-1536-0925, Schoenau, Eckhard and Semler, Oliver (2017). Correlation of Bone Mineral Density on Quality of Life in Patients with Osteogenesis Imperfecta during Treatment with Denosumab. Pediatr. Endocrinol. Rev. PER, 15. S. 123 - 130. NETANYA: MEDICAL MEDIA. ISSN 1565-4753

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Abstract

Osteogenesis imperfecta (O1) is a rare hereditary skeletal disease leading to recurrent fractures, short stature and impaired mobility. The phenotype varies from mildly affected patients to perinatal lethal forms. In most cases an impaired collagen production due to mutations in COL1A1 or COL1A2 cause this hereditary bone fragility syndrome with an autosomal dominant inheritance. Currently an interdisciplinary therapeutic approach with antiresorptive drugs, physiotherapy and surgical procedures is the state of the art therapy. The effect of such a therapy is evaluated by measuring different surrogate parameters like areal bone mineral density or by using different mobility tests or questionnaires. Up till now the impact of these parameters on quality of life of the patients is not evaluated. Currently pharmacological strategies are based on antiresorptive treatment with bisphosphonates. In this trial we investigated the effect of an antiresorptive therapy with the monoclonal antibody denosumab decreasing the activity of osteoclasts. Denosumab was administered subcutaneously in a dose of 1mg/kg body weight in 10 children with 01 (5-10 years of age) every 12 weeks for 48 weeks. Areal bone mineral density, mobility, pain scores and quality of life were measured. The results showed a good effect of the treatment on bone mineral density but this improvement showed no correlation to pain and quality of life. In conclusion further trials have to define parameters to assess interventions which influence activities of daily life of the patients. An interdisciplinary approach including physicians, basic researchers and patient organisation is needed to focus research on topics improving quality of life of patients with severe skeletal diseases.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Hoyer-Kuhn, Heike UNSPECIFIED UNSPECIFIED UNSPECIFIED Starke, Christina UNSPECIFIED UNSPECIFIED UNSPECIFIED Franklin, Jeremy UNSPECIFIED orcid.org/0000-0003-1536-0925 UNSPECIFIED Schoenau, Eckhard UNSPECIFIED UNSPECIFIED UNSPECIFIED Semler, Oliver UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-218148
DOI:	10.17458/per.vol15.2017.hsf.correlationbonemineraldensity
Journal or Publication Title:	Pediatr. Endocrinol. Rev. PER
Volume:	15
Page Range:	S. 123 - 130
Date:	2017
Publisher:	MEDICAL MEDIA
Place of Publication:	NETANYA
ISSN:	1565-4753
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language CHILDREN; MUTATIONS; FRAGILITY Multiple languages Endocrinology & Metabolism Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/21814