Dr. Auray-Blais is the Director of the Quebec Provincial Mass Urinary Screening Program

 In Congresses, Fabry Disease, Hunter Syndrome

Dr. Auray-Blais is the Director of the Quebec Provincial Mass Urinary Screening Program for hereditary metabolic disorders since its inception more than 35 years ago. We recently had the pleasure of interviewing Dr Auray-Blais about her work on the Shire-supported project to generate a multiplex UPLC-MS analysis of biomarkers to diagnose MPS I, II, III, IV and VI. See below for the discussion and visit the Rare 2 Aware blog again for more information from leaders in the rare disease space. Interview with Dr Auray-Blais. September 7th 2016. Please briefly summarise the research you are presenting at SSIEM 2016 At present clinicians may be using a spectrophotometric analysis of total GAGs to diagnose and to monitor MPS patients, but this results in too many false negative and false positives. I have been working on a Shire-supported project to generate a multiplex UPLC-MS analysis of biomarkers to diagnose MPS I, II, III, IV and VI. What method of testing is optimal? DBS samples have a role in diagnosis and for enzyme-activity testing but urine samples will always be needed for monitoring patients’ response to therapy. Urine samples are less invasive than DBS for repeat sampling. What topics have caught your attention at SSIEM 2016? Piero Rinaldo’s talk highlighting the need to reduce the false positive rate resonated with me, and the need to be careful with the use of reference ranges, and to not stress parents for a second specimen for second tier testing. My work for the multiplex test of MPS basically combines first tier and second tier testing into one run and we are careful to always use age-matched controls. What is your view on the importance of newborn screening? MPS diseases are potentially debilitating diseases so it is important to detect them early. If we have the means to detect a disease early and the means to treat the disease, then we have no reason not to aim to detect patients as early as possible with newborn screening. In MPS diseases, what is your view on the importance of pedigree analysis? Pedigree analysis is very important for MPS disease and is part of standard procedure, because many individuals within a family can be affected. In your experience, what should raise suspicion of an MPS disease? Clinical presentation along with biomarkers. How important is early initiation of treatment in MPS? Do you think this is well established in your country? Do you think that country-wide/Europe-wide reference networks are needed to connect the rare disease community together and improve diagnostic and management procedures? Awareness is very important. Some doctors may only ever see a few patients, therefore there is still work to do to increase disease awareness and to ensure clinicians know what tests and what treatments are available. Country-wide reference networks and educational activities have a key role in increasing awareness. What are the biggest challenges in managing MPS diseases? The variability in genotypes and phenotypes is very challenging for clinicians. This is especially the case in Hunter syndrome where the correlation between genotype and phenotype is not straightforward. A future avenue of research I would like to pursue is a mass spec metabolomic study of Hunter syndrome to examine severe, attenuated and age-matched controls on a full profile of samples (blood, urine and CSF). I believe we could elucidate biomarkers to differentiate these patients. How useful do you think the Hunter/Fabry outcome survey are? In my research I regularly have the problem of needing both biological samples and clinical data when often you obtain one and not the other. If the outcome surveys could include a bank of biological sample, in particular from before the start of treatment, they would be exceedingly useful. What do you predict for the future of rare metabolic disease therapy? I have seen MPS cases where children of the same family with the same genotypes display different levels of biomarkers in response to therapy. Clearly each person has their own metabolic profile and an individualised metabolic response to the disease genotype and to therapy. Therefore I think that treatment might need to become personalised – at the simplest level, this might mean different dosing per patient. INTSP/C-ANPROM/RDBU/16/0036 September 2016 The post Dr. Auray-Blais is the Director of the Quebec Provincial Mass Urinary Screening Program appeared first on Rare2Aware.

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