Universität zu Köln

Semler, Oliver ORCID: 0000-0003-0029-7556, Rehberg, Mirko, Mehdiani, Nava, Jackels, Miriam and Hoyer-Kuhn, Heike (2019). Current and Emerging Therapeutic Options for the Management of Rare Skeletal Diseases. Pediatr. Drugs, 21 (2). S. 95 - 107. NORTHCOTE: ADIS INT LTD. ISSN 1179-2019

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Abstract

Increasing knowledge in the field of rare diseases has led to new therapeutic approaches in the last decade. Treatment strategies have been developed after elucidation of the underlying genetic alterations and pathophysiology of certain diseases (e.g., in osteogenesis imperfecta, achondroplasia, hypophosphatemic rickets, hypophosphatasia and fibrodysplasia ossificans progressiva). Most of the drugs developed are specifically designed agents interacting with the disease-specific cascade of enzymes and proteins involved. While some are approved (asfotase alfa, burosumab), others are currently being investigated in phase III trials (denosumab, vosoritide, palovarotene). To offer a multi-disciplinary therapeutic approach, it is recommended that patients with rare skeletal disorders are treated and monitored in highly specialized centers. This guarantees the greatest safety for the individual patient and offers the possibility of collecting data to further improve treatment strategies for these rare conditions. Additionally, new therapeutic options could be achieved through increased awareness, not only in the field of pediatrics but also in prenatal and obstetric specialties. Presenting new therapeutic options might influence families in their decision of whether or not to terminate a pregnancy with a child with a skeletal disease.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Semler, Oliver UNSPECIFIED orcid.org/0000-0003-0029-7556 UNSPECIFIED Rehberg, Mirko UNSPECIFIED UNSPECIFIED UNSPECIFIED Mehdiani, Nava UNSPECIFIED UNSPECIFIED UNSPECIFIED Jackels, Miriam UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoyer-Kuhn, Heike UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-151558
DOI:	10.1007/s40272-019-00330-0
Journal or Publication Title:	Pediatr. Drugs
Volume:	21
Number:	2
Page Range:	S. 95 - 107
Date:	2019
Publisher:	ADIS INT LTD
Place of Publication:	NORTHCOTE
ISSN:	1179-2019
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language IMPERFECTA TYPE-VI; OSTEOGENESIS-IMPERFECTA; SCLEROSTIN ANTIBODY; INTRAVENOUS NERIDRONATE; DENOSUMAB TREATMENT; MESENCHYMAL CELLS; DNA METHYLATION; MOUSE MODEL; CHILDREN; BONE Multiple languages Pediatrics; Pharmacology & Pharmacy Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/15155