The ESE Rare-CaPaB programme is a new educational initiative aimed at addressing the unmet needs of the calcium, phosphate and bone community, and to advance the knowledge and the medical education in five rare calcium, phosphate and bone conditions, and ultimately improve the awareness and the standards of care for patients suffering with these disorders.
The main aims of the ESE Rare-CaPaB are:
- Identify the priorities to address concerning calcium, phosphate and bone disorders, and how to action these
- Understand and support the journey and management of patients, including in the transition from paediatric to adult care, as well as the ongoing needs of such patients throughout adulthood
- Establish ways to increase clinical awareness and diagnosis, including for the late onset forms
- Increase support and education of expert and non-expert healthcare audiences who regularly manage such patients
Rare disorders of calcium and phosphate metabolism, such as inherited causes of PTH-dependent or independent hypercalcemia, or hypoparathyroidism, inactivating PTH/PTHrp signalling disorders and X-linked and other genetic causes of hypophosphatemia, directly affect calcium and/or phosphate metabolism and alter the function of various target organs such as the kidneys and bone.
Metabolic bone diseases are caused by genetic abnormalities that may directly or indirectly affect the bone, or by other factors (hormones, tumours, diet, or drugs) that alter bone cell function. These diseases are rare, many are caused by changes in genes that can be passed on to children of affected adults; others may develop after birth from medical problems that were not inherited. For others, the cause remains unknown.
These disorders may result in abnormal growth and development of the skeleton and/or the inability to maintain healthy bones. Proper medical management of these rare conditions requires specialised training and experience. The issues faced with rare bone disorders, specifically, can be multi-fold, and may present quite an overlap with the general issues faced around other rare diseases due to:
- Insufficient awareness of the disease, leading to delays in diagnosis and treatment initiation
- Lack of research investment/options due to the low patient numbers
- Complicated differential diagnosis requiring expert opinion
- Unfamiliarity with and/or limited access to disease reference and expert centres
- Availability and/or access to innovative drug treatments
A specific consideration for rare calcium, phosphate and bone disorders is that due to the onset of many disorders beginning in childhood, it is especially important to assess the best approaches to treating patients as they transition from adolescence to adulthood. In this regard, special attention needs to be considered regarding the:
- Structure of transitional care needed for patients that move from paediatric to adult care settings
- Appropriate range of support and patient information provided to their family and caregivers
- Ongoing treatment and management of patients following transition from paediatric to adult care
The ESE Rare-CaPaB programme is focused on the following five conditions:
- Osteogenesis imperfecta
- Hypoparathyroidism (with a focus on rare causes, i.e. genetic, autoimmune)
- Pseudohypoparathyroidism
- XLH and other rare causes of hypophosphatemia
- Hypophosphatasia
Chairs and Programme Leads:
- Elena Tsourdi (Germany)
- Peter Kamenický (France)
Steering Committee:
- Giovanna Mantovani (Italy)
- Agnes Linglart (France)
- Carola Zillikens (Netherlands)
- Ralf Oheim (Germany)
- Andrea Palermo (Italy)
- Maria Yavropoulou (Greece)
- Outi Mäkitie (Finland)
- Corinna Grasemann (Germany)
Members of the Expert Panel:
- Liesbeth Winter (Netherlands)
- Adalbert Reimann (Austria)
- Natasha Appelman-Dijkstra (Netherlands)
- Luís Cardoso (Portugal)
- Tanja Sikjaer (Denmark)
- Martin Kuzma (Slovakia)
- Heide Siggelkow (Germany)
- Catherine Chaussain (France)
- Guiomar Perez de Nanclares (Spain)
- Neil Gittoes (UK)
- Justine Bacchetta (France)
The programme is designed to be of benefit to various clinical communities:
- International parathyroid disorder experts
- General endocrinologists
- All ESE Members
- Non-endocrine practitioners
- Patient stakeholder groups
ESE is grateful to Amolyt Pharma, Ascendis Pharma, BridgeBio, Inozyme and Kyowa Kirin for their support to this programme via restricted educational grants.
None of the supporters played any role in the objectives, aims, scope, faculty selection, nor will participate in the development and outputs of the educational programme. All steering committee and expert panel members declared any conflicts of interest in respect of these organisations and received ESE approval to take part.