Aim The Wolfram Syndrome (WS) national MDT clinics were established in 2011 with 4 paediatric and 3 adult clinics held annually. Patients with suspected or confirmed diagnoses are referred for assessment from Scotland, England and EU countries with reciprocal arrangements. We aimed to review all 75 patients referred to clinic and map their clinical features, demographics and genetic testing to determine UK disease-spread, atypical cases, statistics on affected individuals, consanguinity levels and types of Wolfram diagnosed. Background WS is a rare ( 1 in 770,000) progressive neurodegenerative condition and is extremely variable, though the four commonest features are; Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness ( DIDMOAD ). Other features are seen ([Table 1][1]). It is caused by mutations in the WFS1 gene, Chromosone 4. ![Abstract G438 Figure 1][2] Abstract G438 Figure 1 Patient with Wolfram’s by UK region (no data for Wales or Northern Ireland). Size of spot indicates relative number of patients per region with WS Methods We reviewed records of all 75 patients seen since 2011 including: age, address, ethnicity, clinical features, consanguinity, individuals affected per family and genetic testing. Results Out of 75 referrals; 66 patients have Wolfram Syndrome (type 1, AR) and 2 have Wolfram-like Disease (AD) 54 families are affected from which 16 parents are related (consanguinity level 30%) 14 of the 68 patients are from BME communities (21%), 5 from Southern Europe (7%). Number of families with: One affected individual (41) Two affected (12) Three affected (1). Patients from all regions of England have been seen, with the greatest affected areas; East/West Midlands ([Table 2][3] and [Figure 1][4]). ![Abstract G438 Table 1][2] Abstract G438 Table 1 ![Abstract G438 Table 2][2] Abstract G438 Table 2 Conclusion The combined population of England (53.5) and Scotland (5.3) is 58.8million (2012 Census). If 1 in 770,000 people are affected, we expect to identify 76 patients. We identified 65 patients within this region (3 others were diagnosed from the EU) and we are aware of patients who chose not to be referred. Thus most patients with WS have been referred. However, it is possible that WS is more common and is currently under-diagnosed. With increased awareness, more patients may benefit from this specialist service. We identified 7 patients with atypical features/unusual mutations who are being investigated for novel mutations. Of whom; none had Diabetes Insipidus, Optic Atrophy tended to occur later and mutations were generally missense. [1]: #F2 [2]: pending:yes [3]: #F3 [4]: #F1