1. Living with Pompe Disease
Sharing Experiences
Maryze Schoneveld van der Linde
Cluj - Napoca, Romania, 27 June 2009

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. 8 years: The diagnosis Pompe Disease

4. Life continues….

5. Before we had a medicine
….

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. The different stages of Pompe disease
10 years 16 years 21 years
29 years 24 years
37 years
27 years

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9. New Hope
14th November 1996: Pharming
announces that medicine will be developed
in genetically modified rabbits to treat
Pompe patients.

10. Collaboration
Patients
Science Industry

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. Increasing knowledge and
awareness worldwide:
- Improving diagnosis
- Receiving optimal care
- Receiving early treatment
- Finding patients for
clinical trials

13. Problems we needed to deal with ….
Animal Welfare Organisations
Delays in market launch
Political parties
Financial problems manufacturer

14. Chinese Hamster Ovary cells Start culture
Ovary cells
Chinese hamsters
Bioreactors
End Product
Purification of the product

15. The Genzyme plants
USA
BELGIUM

16. IPA conferences to share expertise and
experience

17. Collaboration with science with designing,
collecting and analyzing of the IPA/Erasmus
Questionnaire to improve knowledge on
Pompe disease.

18. Providing information to patients worldwide
Available in:
Turkish
English
German
Dutch
Spanish
French
Italian
Japanese
www.worldpompe.org/versionsofpompeconnections.html
www.worldpompe.org/versionsoftreatmentedition.html

19. The impact of Myozyme on the lives of patients and their families

23. Reimbursement for Orphan Drugs
Minister Hoogervorst visits
Vereniging Spierziekten Nederland

24. Meet with EMEA & FDA to provide the patient
perspective
European Medicines Agency

25. Myozyme™ Receives Positive Opinion from
European Regulatory Committee
Date: January 27, 2006
Proposed Indication Includes All Patients with
Pompe Disease

26. - 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

27. 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

29. 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.

30. 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.

31. 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.

32. 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.

33. 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.

34. 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

35. Myozyme: my experience
• Halt of the progression
• More energy
• Better endurance
• Better breathing
• No use of enteral (G-tube) feeding
• Good appetite
• ……………….

36. My new future perspective
Old age pension
Job career
Housing
Social network
Care and Rehabilitation

37. 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

38. 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

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