1200 – 1300 | Home Infusion Therapy for Patients living with Mucopolysaccharidosis Type I (MPSI) in Canada | Sponsored by Genzyme (includes luncheon)
1400 – 1600 | Medunik Advisory Board Meeting (Invite Only)
1400 – 1600 | Dietitians’ Meeting/Webinar: Dietary Practices of Inherited Metabolic Disorders in the UK | Sponsored by Cambrooke Therapeutics and Vitaflo
Friday May 20
0730 – 0830 | A Difficult to Identify Metabolic Disease: Late Onset Lysosomal Acid Lipase Deficiency | Sponsored by Alexion (includes breakfast)
1230 – 1330 | New Evidence and Treatment in the Management of PKU | Sponsored by BioMarin (includes luncheon)
Saturday May 21
Thursday May 19
Jenn and Anisa Elder, Anisa Elder is an MPS I patient, together with her mother
Aneal Khan, University of Calgary
- Identify challenges to receiving enzyme infusion therapy in Canada.
- Compare advantages versus disadvantages of home versus institutional enzyme replacement therapy.
- Determine whether there is an advantage to using home infusion as standard of care.
1400-1510 Dietary Practices of Inherited Metabolic Disorders in the UK
Anita MacDonald, Consultant Dietitian in Inherited Metabolic Disorders, Birmingham Childrens Hospital, Birmingham, UK
- Participants will have gained insight in the UK dietary management of amino acid disorders.
- Participants will gain awareness to the UK approach to the type and dose of protein substitute used.
- Participants will understand the UK approach to monitoring and follow up of IMD patients with dietary disorders.
- Participants will gain awareness about UK approaches to infant feeding of infants with amino acid disorders.
Local dietary practices for IMD have been developed by a combination of research, systematic audit, and professional guidelines and consensus. We now have over 70 dietitians working in IMD in the UK, with all patients transitioning to adult services between the ages of 16 to 18 years of age. Many of the differences in services and management policies will be highlighted, using PKU as an example.
Management of phenylketonuria (PKU): Many of our patients have severe PKU and infants are screened 5 days of age and we have usually commenced treatment by day 12. Our policy is to restrict high protein foods, give a phenylalanine (Phe)-free-L-amino acid supplement, and allocate natural protein in the form of a 50 mg Phe exchange system (50 mg of Phe corresponds to about 1 g of natural protein). The exchange system works on the basis that the protein content of most foods contains 5% Phe (vegetables and fruit are an exception, with Phe accounting for 3–4% of protein content in most vegetables and 3% of protein content in fruits). After extensive research, we allow all fruits and vegetables (potatoes excepted) that contain a phenylalanine of ≤ 75mg/100g without measurement in the UK diet. Most of our protein substitutes (medical foods) used for children over 4 years of age are lower in carbohydrate, fat and consequently calories than USA medical foods. We use Phe-free infant formulas in infancy, ‘gel’ type protein substitutes are introduced from 6 months and liquid pouches usually from the age of 4 years. Protein substitutes and the majority of low protein special foods are available on the National Health Service (NHS) prescription system and are ‘free of charge’ for our children aged 16 years and under. Older patients have to make a small financial contribution towards their cost. We have started to use glycomacropeptide (GMP) but unfortunately, NHS England will currently not support the use of sapropterin.
In PKU, we aim to maintain blood phenylalanine levels up to the age of 12 years between 120 to 360 µmol/L and between 120 to 600 µmol/L after this age. We recommend treatment for life. Home monitoring of Phe is conducted regularly with patients having weekly blood Phe below 10 years of age and usually fortnightly to monthly thereafter. The UK is a small country, with the majority of our patients living within a 1-hour radius of each metabolic centre. This has enabled us to deliver a different style of care to our patients. All of our patients receive dietetic follow up in the homes as well as hospital. The frequency will depend on age, patient or parent skills and ability and adherence to dietary management.
The approach to PKU care will be compared with our management of other conditions.
1510-1540 Recent Clinical Data and Experience with GMP in PKU Treatment
Debra Hook, Metabolic Dietitian, Children’s Hospital Los Angeles, University of Southern California
1540-1600 Experiencing the PKU Diet, an RD’s Perspective
Geneviève Lafrance, Metabolic Dietitian, Fleurimont Hospital , l’Université de Sherbrooke
Friday May 20
Gordon A. Francis, University of British Columbia
Increase awareness of the clinical features and when to consider screening for LALD, the variable natural history of the disease.
This session will review the clinical presentation and natural history of early and later onset forms of LALD, challenges of identifying cases, and screening.
Dr. Gordon Francis is an endocrinologist and Professor of Medicine in the Centre for Heart Lung Innovation and Department of Medicine at St. Paul’s Hospital, UBC. Dr. Francis completed his BSc (Hons) in Biochemistry at Simon Fraser University, followed by MD training at McGill University, internship and internal medicine residency at UBC, and fellowship in endocrinology and metabolism at the University of Alberta. He was then a senior research fellow for 4 years studying basic and clinical lipid and lipoprotein metabolism at the University of Washington in Seattle. From 1994-2007 he was a member of the CIHR Group in Molecular and Cell Biology of Lipids and from 2000-2007 Director of the Cardiovascular Risk Reduction Clinic at the University of Alberta. In 2007 he returned to his home city of Vancouver to join the Centre for Heart Lung Innovation (formerly UBC James Hogg Research Centre) and direct the Healthy Heart Program Prevention (former Lipid) Clinic. Establishment of his laboratory in this Centre at St. Paul’s Hospital was funded by the Heart and Stroke Foundation of BC and Yukon. He holds research funding from CIHR and the Heart and Stroke Foundation of Canada, and is the principal investigator for a Canadian Foundation for Innovation Leading Edge Fund award funded in 2012, “Molecules to Human: Enhanced phenotyping for the discovery,prevention, & treatment of heart, lung, & blood vessel disease”. Previous awards have included an Alberta Heritage Foundation for Medical Research Senior Scholar Award, the University of Alberta Department of Medicine Award for Excellence in Academic Mentoring, and the Royal College of Physicians and Surgeons of Canada Medal in Medicine.
Dr. Francis’ research studies mechanisms of intracellular trafficking of cholesterol as it relates to expression of the membrane lipid transporter ATP-binding cassette transporter A1 (ABCA1) and high density lipoprotein (HDL) formation. Key observations from his research include identification of the defect in apolipoprotein-mediated lipid efflux from Tangier Disease cells (J Clin Invest 1995), demonstration of impaired ABCA1 regulation and HDL formation in the lysosomal cholesterol storage diseases Niemann-Pick Disease Type C and Cholesteryl Ester Storage Disease (J Biol Chem 2003, 2006, 2011), and the ability of HDL oxidized by tyrosyl radical to enhance cholesterol removal from cells, reduce development of atherosclerosis, and stabilize ABCA1 against degradation (PNAS USA 1993, J Biol Chem 1998, ATVB 2003, BMC Biochemistry 2012). His laboratory recently reported that smooth muscle cells represent at least 50% of all intimal foam cells, have a specific defect in ABCA1 expression, and comprise a large percentage of macrophage marker-expressing cells in human coronary atherosclerosis (Circulation 2014). He is also a member of the Canadian Cardiovascular Society Consensus Panel for the Diagnosis and Treatment of Dyslipidemia for the Prevention of Cardiovascular Disease.
Introduction and Overview
Jane Gillis, BC Children’s Hospital
ACMG and European PKU Guidelines including Canadian Perspective
John Mitchell, Montreal Children’s Hospital
- To provide update on ACMG guidelines, new European PKU guidelines and share current practice approach to PKU management/treatment at Montreal Children’s.
New treatments including clinical trial update on Pegvaliase
Jerry Vockley, University of Pittsburgh/Children’s Hospital of Pittsburgh
- To provide treatment update for managing PKU (diet, Kuvan, Kuvan Powder (in US), GMP, LNAAs), clinical trial update on Pegvaliase and any other updates.
Conclusion and Questions
Moderated by John Mitchell, Montreal Children’s Hospital