Working Groups

Skeletal Rare Diseases

Members

Chair: ML Brandi

Members: G Adib, D Agnusdei, J Bilezikian, C Bogado, M Chandran, D Chappard, R Chapurlat, B Clarke, JP Devogelaer, R Eastell, A El Magrahoui, S Ferrari, G Guglielmi, N Hamdy, F Jakob, K Javaid, J Kanis, JM Kaufman, U Liberman, G Lyritis, L Masi, P Miller, N Napoli, S Papapoulos, R Rizzoli, S Silverman, N Watts

Co-opted: M Collins, W Högler, W van Hul, R Oheim, E Roldan, A Superti-Furga

Aim

To investigate skeletal rare disorders and skeletal complications in non-skeletal rare disorders.

Objectives

  • SRD Course worldwide
  • Expression of hypophosphatasia in adults
  • Review on the uptake of drugs that are available for SRD in different geographical areas of the world
  • Developing brochures and risk cards for various skeletal rare diseases

Projects

  • SRD Course
  • Creation of a coalition of associations worldwide
  • Paper describing the nomenclature of SRDs focusing on primary (congenital) metabolic diseases
  • Hypophosphatasia in adults

Related content

Skeletal Rare Disorders  - online detailed information about more than 90 of the main rare diseases that affect the skeleton.

Publication

  1. Masi, L., Ferrari, S., Javaid, M.K. et al. Bone fragility in patients affected by congenital diseases non skeletal in origin. Orphanet J Rare Dis 16, 11 (2021). 
  2. Masi, L., et al., Taxonomy of rare genetic metabolic bone disorders. Osteoporos Int, 2015. 26(10): p. 2529-58.