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Living With Pompe Disease, Sharing Experience, Cluj, Romania 27 June 2009


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Living With Pompe Disease, Sharing Experience, Cluj, Romania 27 June 2009

  1. 1. Living with Pompe Disease Sharing Experiences Maryze Schoneveld van der Linde Cluj - Napoca, Romania, 27 June 2009
  2. 2. Pompe Disease Dr. J.C. Pompe (1901-1945) • Babies die before the age of 1 due to heart and respiratory failure. • In older patients muscles deteriorate. Respiratory support is inevitable. Muscle functions of legs, arms, neck and waist are lost, severe fatigue, muscle aches, problems with swallowing etc.
  3. 3. 8 years: The diagnosis Pompe Disease
  4. 4. Life continues….
  5. 5. Before we had a medicine ….
  6. 6. Baby’s and adult patients died: Wil, 42 years (The Netherlands) Paolo, 20 years (Italy) José, 34 years (Puerto Rico) Kelly, 9 years (United States) Gretchen, 39 years (United States) Feroza, 7 months (United Kingdom) Christelle, 33 years (France) Nada, 9 months (Gaza) Paul, 50 years (The Netherlands) Lina, 3 years (Gaza) Marg, 54 years (The Netherlands) Sofia, 8 months (Lithuania) Cody, 19 years (United States) Michelle, 40 years (United Kingdom) Rosa, 7 months (India) Jayne, 45 years (Australia) Dan, 55 years (United States)
  7. 7. The different stages of Pompe disease 10 years 16 years 21 years 29 years 24 years 37 years 27 years
  8. 8. 19 193 cla 54: G de 2: J s .C a G ssifie .T.C SD s P ori dis cribe . Pom om eae s t h pe 19 . pe se. e pu 66-1 as bli 97 cl a ca 196 ss tion 0: 1 st Po 3: H ica l P s ab m om ou dis pe a .G. H 19 pe t no ord s er pre 68 -19 n er . a l ys s e. a oso . sp na m a eci f tal 70: l st y dia 1 196 ora 198 gn st at os t NM 7: F ge gro 0: D i s. em p D A oun up i t sso dat s V agno cia ion SN si s 197 ti o V bo 9: T n). SN ( Du un at c 198 d hro he g t ch mo ene tra 6: B so m is n sp o e 1 foun lan nema 7. d 199 tat 198 pub 1: A ion rrow 3: O . f ai l s. rph upt lish 1 T. v/d an ak e st r P 198 D ru in m esu loeg 8 gA usc lts e e.a. com : A. ct i les nzy J. J nU of m me alp plete . Re SA h a- pub use i ce g lu 199 . co s l i cat i o r e. a. ann 6: Ph ida n se. clon enz ounce armin 199 ing ym s g 2 T: e in prod r eat 200 rab ucti y of bits on M aa A ct 0 O : . stri in E rph 199 cht uro an Dru 9: Fo pe g Pom pe A undat 200 sso io O 1: ciat n Int. rp Ste ion ( IP A of H han Dr eringg 200 ) e u ro pub 0: J .M.P in Science, Patients, Politics and Industry 200 alth gs by M up l i sh inis abo . v/d H st ar 3 : E xp and ter ut E o Research and Development ts fo 200 RT ut e.a pati ents r seve ed A 2 ove : Gen in p . . r el y ccess r en z atie nts 200 af f e cted zym yme ta e pr kes . 9: A odu of 4 ct i o 000 pprova 200 n LM l Myo 6: R yoz by EM zym egistra ym e EA e in ti Eur on of ope
  9. 9. New Hope 14th November 1996: Pharming announces that medicine will be developed in genetically modified rabbits to treat Pompe patients.
  10. 10. Collaboration Patients Science Industry
  11. 11. Members of the International Pompe Association Argentina Hong Kong Poland Australia India Portugal Austria Israel Singapore Belgium Italy South Africa Brazil Japan Spain Canada Malaysia Sweden China Mexico Switzerland Czech Republic Netherlands Taiwan Denmark New Zealand Turkey France Norway Ukraine Germany Peru United Kingdom Greece Philippines USA With contacts in: Iran, Rumenia, Hungary, Algeria en Georgia
  12. 12. Increasing knowledge and awareness worldwide: - Improving diagnosis - Receiving optimal care - Receiving early treatment - Finding patients for clinical trials
  13. 13. Problems we needed to deal with …. Animal Welfare Organisations Delays in market launch Political parties Financial problems manufacturer
  14. 14. Chinese Hamster Ovary cells Start culture Ovary cells Chinese hamsters Bioreactors End Product Purification of the product
  15. 15. The Genzyme plants USA BELGIUM
  16. 16. IPA conferences to share expertise and experience
  17. 17. Collaboration with science with designing, collecting and analyzing of the IPA/Erasmus Questionnaire to improve knowledge on Pompe disease.
  18. 18. Providing information to patients worldwide Available in: Turkish English German Dutch Spanish French Italian Japanese
  19. 19. The impact of Myozyme on the lives of patients and their families
  20. 20. Reimbursement for Orphan Drugs Minister Hoogervorst visits Vereniging Spierziekten Nederland
  21. 21. Meet with EMEA & FDA to provide the patient perspective European Medicines Agency
  22. 22. Myozyme™ Receives Positive Opinion from European Regulatory Committee Date: January 27, 2006 Proposed Indication Includes All Patients with Pompe Disease
  23. 23. - Orphan Drug Act (EU) - People’s health - Approval medicine by - Law and Regulations - Use Laboratory Animals EMEA / FDA (GCP). - Reimbursement of medicines - Recommendations - Legislation Laboratory Animals neonatal screening by National Health Advisory Environment Board Politics - Animal Laboratory Authorities Research - Biotechnology (cloning, genetic modification, gene therapy) Industry Patients Science - Development and production of medicines - Designing and execution of clinical trials Society - Public opinion Interest groups Media - Solidarity - Economic support - Critical attitude towards medical developments and technologies - Reporting that involve animals (Animal - Correct information Welfare Associations) - Image building
  24. 24. Patients and families can try to find solutions Meeting Prime Minister Howard Launch of the PSOD in Manilla A Royal Decoration for my mum for all her work at the VSN
  25. 25. Nidhi (1999) was diagnosed at October 2007 due to respiratory failure She started treatment at 28-4-2008 She regained her weight and lot of strength. All the activites has improved. In short it is a great turnaround beyond expectation. She now can be without ventilator during the day.
  26. 26. Fida (15 – 5 – 1982) was diagnosed in January 2003, but she experienced problems at the age of 16 – 17 years already. She started treatment at 30 – 5 – 2007 when she was already on night time ventilation, but still able to walk with the typical gait. Since treatment her breathing, energy and appetite have improved. Her weight has increased and she can walk faster. Before treatment she was admitted often to the hospital because of frequent pneumonias and now she hasn’t been sick for over a year. She also slept a lot during the day and now she only sleeps at night.
  27. 27. Tiffany (22-1-1983) participated in the trial with rabbit milk enzyme in Rotterdam at June 1999. In 2001 she started her study at the University of Texas after not having being able to attend school in 5 years. In September 2007 she started her study at Law School.
  28. 28. Karen (3-3-1996) started her treatment with Myozyme in February 2005 Karen doesn’t have problems with respiratory infections anymore. Karen’s body needs to adjust to the many (sports)activities she is doing. She now has much muscle pain due to over exercising. The physicians see this as a clear proof that she really uses her increased muscle strength.
  29. 29. Jamie (6–12–1989) started treatment with Myozyme on February 2005. His lungfunction improved. He can take short ‘naps’ without his ventilator. Jamie plays tennis for 2 hours a week with his peers. His coach said that he sees progression in his speed and strength. Jamie goes to college and studies english, photography and music technology. His ambition is to work in the film business.
  30. 30. Treatment in Practice • Every two weeks • Infusion lasts 4 hours • In hospital or at home • Active exercise during infusion • Active and passive exercises to train the muscles • Good and healthy nutrition intake is important
  31. 31. Myozyme: my experience • Halt of the progression • More energy • Better endurance • Better breathing • No use of enteral (G-tube) feeding • Good appetite • ……………….
  32. 32. My new future perspective Old age pension Job career Housing Social network Care and Rehabilitation
  33. 33. Empowerment; what can you do?  Know the English language!  Know what is going on in your own and other countries  Know what the needs of the people you represent are  (Pro) Active attitude towards developments  Critical attitude towards developments  Good contacts with the different parties (physicians, scientists, industry, other patient groups)  Empowerment of patient leaders (f.e. a training)  Using own knowledge and experience  Get good professional support of a strong patient organisation
  34. 34. Partnership Results Accelerated the development of a treatment & helped improve patient care • IPA recruited participants for clinical trials, solved insurance problems  Faster enrolment of patients • Erasmus / IPA questionnaire  published results, useful information for clinical trial design • Flying with Pompe brochure  trial participation • EAP criteria  greater access • Program updates & Pompe Connections  Up-to-date information • IPA met with EMEA / FDA  Market approval and reimbursement of treatment
  35. 35. Copyright Copyright of all published material including photographs, drawings and images in this document remains vested in Patient Centered Solutions. Accordingly, neither the whole nor any part of this document shall be reproduced in any form nor used in any manner without express prior permission and applicable acknowledgements. No trademark, copyright or other notice shall be altered or removed from any reproduction.