Oral vitamin D spray as a novel treatment for 22q11 deletion syndrome

22q11 deletion syndrome is the most common genetic disorder, affecting about 1/2500 people (as common as cystic fibrosis). It is due to a small missing piece of chromosome 22 on the long arm (q) at position 11. Low vitamin D levels, due to abnormal development of the parathyroid glands occur in all people with 22q11 deletion syndrome. Low vitamin D levels are associated with impaired muscle strength and mobility, thin bones and low mood/anxiety. People with 22q11 deletion syndrome have poor adherence to medicines and dislike tablets. In this project we will perform a clinical trial to see if a vitamin D oral spray improves use of vitamin D, blood vitamin D levels and associated symptoms in 22q11 deletion syndrome. 100 people with 22q11 deletion will be randomised to either vitamin D oral spray (n=50) or usual treatment (n=50). At baseline detailed behavioural, psychiatric and cognitive phenotyping will be performed. Gait will be assessed using our state of the art gait analysis system. These assessments will be repeated at 6, 12 and 18 months. Vitamin D levels will be measured on finger prick blood samples. Statistical analyses will be performed to assess if vitamin D oral spray is superior to tablets in maintaining blood vitamin D levels and improving symptoms in 22q11 deletion.