Lafora Disease Report to the WHDC AGM - Sept. 2013

Post date: Sep 28, 2013 9:31:58 AM

Sue Holt, Lafora Coordinator, presented the following report at the AGM of the Wirehaired Dachshund Club on 22nd September 2013.

Background

The Kennel Club and Breed Clubs donated funds to subsidise a research programme aimed at developing a test that would identify those miniature wire haired dachshunds that are Affected, Carriers or Clear of Lafora Disease. The Centogene laboratory could not successfully develop a robust and consistent test that would identify Carriers, although the saliva tests they did, could differentiate between Affected and Unaffected animals.

Dr Minassian at the Toronto Hospital For Sick Kids had successfully developed a test for Lafora Disease in Children and had used similar techniques to develop a test for dogs. When we told him about the issues we were having, he used his Research Assistant to work on developing a test that could successfully identify Clear, Carriers and Affecteds. The first batch of 41 blood and saliva samples was sent in April 2012. These tests took months to complete because of the complexity of the analysis and the risks of sample contamination. Therefore, before the next batch was sent in April 2013, Dr Minassian’s team revived a previously used method that proved to be very successful and a lot quicker, he calls this the “Southern Blot” method. It remains extremely complex and is not

a quick turnaround test.

The next batch of 46 was sent in April 2013 and by now it was apparent that saliva samples did not consistently offer robust results so just blood samples were sent. These results were turned round in approximately 10 weeks. The third batch was sent in July 2013 and we expect the complete results this week, although he has given us indicative figures to use in this report.

To date, a total of 322 dogs have been tested. Of those, 174 are Unaffected from the Centogene tests (we do not know if any of these are Carriers as they have not had the full test). 149 dogs have had the full spectrum test and the results of these are:

Affected: 14 (9.3%)

Carrier: 54 (36.2%)

Clear 81 (54%)

From the total dogs on our database (322) there are 37 Affected, which is an overall incidence of 13.4% (slightly inflated due to testing of some animals known to be affected and used as control samples). Whichever testing method has been used, the incidence per cohort has usually been around 10%.

Going Forward

• • Funds are limited so there is only sufficient subsidy for approximately 100 more dogs

  • There is another testing day in Lichfield on 20th November. Forms are available from Sue Holt Susan.Holt@talktalk.net or Nora Price laforatesting@mypostoffice.co.uk

  • We are in discussions with the Kennel Club about getting the test recognised

Details of the next Screening session can be found here and the database of test results is here.