Targeted syndrom under study
Williams-Beuren syndrome
Abstract
We aim to investigate the natural history of adult patients with Williams-Beuren syndrome with regard to the vitamin D and calcium metabolism and (patho)physiology. The current treatment algorithm recommends not to supplement vitamin D in adults with Williams-Beuren because there have been cases of hypercalcemia in children. However, adult patients often have osteopenia or osteoporosis and a vitamin D deficiency and would therefore benefit from vitamin D (and even calcium) supplementation. We aim to analyse adult patients with Williams-Beuren syndrome and asses the prevalence of vitamin D deficiency, of osteopenia/osteoporosis, of hypercalcemia (and its underlying pathophysiology), and whether or not supplementation of vitamin D (or calcium) is safe and effective in adults with WBS.
Coordinating clinicians/researchers
Dr. Laura de Graaff, Associate Professor Internal medicine for Rare Genetic Syndromes – l.degraaff@erasmusmc.nl ; g.vanessen@erasmusmc.nl (Trui van Essen, PhD-student, MD),
Institution
Erasmus Medical Center, Rotterdam, the Netherlands
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: No