Treatment

• Myozyme Treatment

• Paediatric NCG Centres
• Adult NCG Centres
• Infusions
• Travel
• The Hospital Travel Cost Scheme (HTCS)
  

Myozyme^�

An Enzyme Replacement Therapy (ERT), developed by The Genzyme Corporation (www.pompe.com) is now available to patients around the world. The enzyme replacement is called Myozyme and is available in England by referral to one of the NCG (formerly NSCAG) expert centres. NHS funding for this very expensive therapy is not assured for every patient and in Scotland and Wales it is proving very difficult for some late-onset patients to access the therapy.

Clinical trials have proven the benefits of Myozyme for Pompe infants, but for the late-onset patients trials are still in progress. These studies should be complete in 2007 and if successful they should provide the evidence needed to secure the therapy for all UK patients.

Genzyme have an International Charitable Access Program (ICAP) whereby infants and severely affected late-onset Pompe patients can be recommended to receive the therapy on a compassionate basis before NHS funding is eventually approved.

Paediatric NCG Centres

Addenbrookes, Cambridge

Birmingham Children's Hospital

Chris Hendriksz
Consultant in Clinical Inherited Metabolic Disorders
Steelhouse lane
Birmingham
B4 6NH
United Kingdom

Tel: +44 (0)121 3339907/8
Fax: +44 (0)121 3339909
email: chris.hendriksz@bch.nhs.uk

Dr. Anupam Chakrapani
Consultant in Inherited Metabolic Disorders
Tel: +44 121 333 9907/9908
FAX: +44 121 333 9909

Catherine Stewart

Enzyme Replacement Therapy
Clinical Nurse Specialist

Tel: 07917 175500

email: Catherine.Stewart@bch.nhs.uk

GOSH London

Willink, Manchester

Dr Ed Wraith
Willink Biochemical Genetics Unit
Royal Manchester Children's Hospital
Pendlebury
Manchester M27 4HA UK

Adult NCG LSD Centres

Addenbrookes, Cambridge

Dr Patrick Deegan
Addenbrookes Hospital,
Hills Road
Cambridge
Cambridgeshire CB2 2QQ

Web: www.addenbrookes.org.uk/serv/clin/med/metabmed1.html
Email: pbd21@medschl.cam.ac.uk

The Hope, Manchester

Dr Stephen Waldeck
Consultant Renal Physician, Department of Nephrology
H4 Teaching Block
Hope Hospital
Salford. M6 8HD

Secretary: 0161 206 4365
Mobile: 07801 149995
Email: steve.waldek@srht.nhs.uk

Dr Mark Roberts
Room 21, Home 4
Withington Hospital
Nell Lane, West Didsbury
Manchester M20 2LR

Tel: 0161 445 8111

Secretary
Email: joyce.hall@smuht.nwest.nhs.uk

The National, London

Dr Robin Lachmann
Charles Dent Metabolic Unit
National Hospital for Neurology and Neurosurgery
Queen Square
London WC1N 3BG

Email: robin.lachmann@uclh.nhs.uk

Tel: 020 7837 3611 ext 8778
Direct: 020 7829 8778
Fax: 020 7209 2146

The Royal Free, London

Dr Atul Metha and Dr Derralynn Hughes
Lysosomal Storage Disorders Unit
The Royal Free NHS Trust
Pond Street
London NW3 2QG

Web: www.royalfree.org.uk

Email: Atul.Mehta@royalfree.nhs.uk

d.hughes@medsch.ucl.ac.uk

LSDU direct line and fax: 0207 472 6409
Secretary (Ms. June Elliott) ext 33264

Infusions

The following extracts are taken from the Pompe Connections at www.worldpompe.org/006_Practical.pdf

What practical arrangements should I make to accommodate my treatment?
Once your Myozyme treatment has been arranged, you need to set aside some time to think about some very practical things. Each treatment will take about 4 to 5 hours. Realistically, you should allow about one full day for each infusion session. You'll need to give yourself time to get to the hospital, wait for a short time before your infusion appointment, have the infusion, and then if necessary, wait again after the infusion to make sure that there are no adverse effects. Then of course, you need to factor in the time to return home. You may find that you are tired after your day at the hospital, so think about whether you should drive to the hospital or arrange for a ride there and back. It may be a smart idea to have someone accompany you to the hospital to provide support before, during and after the treatment.

How will treatment affect my work or school studies?
Your Myozyme treatment is likely to require you to spend one day every two weeks at the hospital. You will need to arrange for that time off from your job or school or additional care for your children at home. Talk to your employer or school director and explain your situation. Some countries may have special regulations in place which make it easier to receive time off for medical treatment. If you are a student, ask your teacher to provide you with the work that you'll miss so you can keep pace with your studies.

Am I able to skip a treatment when necessary? For example when I go on holiday?
Myozyme is a life-long treatment and it is important that you follow the schedule. However, in most situations it will be possible to negotiate with your physician to skip a treatment to be able to go on holiday or when you don't feel well. In the case of a holiday it's important to discuss a change in your infusion schedule well in advance with your physician. Your physician is responsible for informing the pharmacist and the medical staff of your absence. A skipped infusion can be received before or directly after your holiday or made up in other ways. It's important to look at the amount of days between your infusions and available options should be discussed with your physician. For special events like weddings or funerals that take place on your infusion day it's also possible to ask your physician to get the infusion on another day, for example a day earlier or later. In this case it's also important to discuss this with your physician as early as possible.

Can I receive treatment at home?
At the beginning of your Myozyme treatment, you will be treated in the hospital. Myozyme is not an everyday medication, and its administration needs to be carefully monitored by medical specialists. However, as your treatment progresses and if the physician agrees that it is a good idea and the law and reimbursement plan in your country allows it you may be able to receive infusions from the comfort of your home. Of course, administration in a home environment must be carefully organized. The Myozyme infusion may need to be prepared by the hospital pharmacist, then either picked up at the hospital or delivered to your home. A trained professional home-care nurse would then go to your home and administer the treatment. In that situation, you should also arrange to have a family member or a friend with you during and after the infusion. This person should know what to do or who to call in the case of any treatment difficulties.

How should I manage my diet and exercise during treatment?
For everyone (and especially if you have Pompe disease) it is important to pay attention to your nutritional and physical habits. Arrange to meet with a dietician or a nutritionist for advice on the type of food or additional vitamins and minerals that you should eat when you are receiving treatment.
Make an appointment for an overall physical examination before you start treatment.

Osteoporosis is a common problem in people with mobility impairment, so that condition should be closely monitored. Physical exercise is also a very important component of your overall wellness plan. Be sure to talk to your physician or to a physical therapist about the type of exercise that will help you improve your body and optimize your physical abilities. For more information, read the publication "Exercise and Physical Therapy" in the Pompe Connections brochure available on the website
www.worldpompe.org/pompeconnections.html.

Travel

As Pompe folk around the UK are being prescribed Myozyme at one of the NSCAG LSD expert centres a new problem is beginning to emerge. The treatment centres are not always conveniently located for many patients and travelling to and from fortnightly infusions will be time-consuming, physically challenging and financially demanding; including an overnight stay to alleviate the physical challenge only compounds the time and financial costs.

Some of you will be helped by family or friends, others may be unable to manage public transport and opt for long and expensive taxi journeys. It may be that some hospitals will be able to provide transport in their package of care, but I fear that many patients will find themselves too mobile to qualify for hospital transport yet feel too frail and vulnerable to trust public transport.

As it would seem that many of you will need to bear the financial burden of travelling to infusion sites, we would advise you to ensure that you are fully aware of all the benefits to which you may be entitled. Family or friends may also qualify for benefits to make life for them a little easier. Take a look at our benefits section for a brief summary of what you may be entitled to.

The hospital travel costs scheme (HTCS)

Financial help is available under the NHS hospital travel costs scheme (HTCS), to those patients who do not have a medical need for ambulance transport and who cannot meet the cost of travel to hospital. The scheme operates under the provisions of the National Health Service (Travelling Expenses and Remission of Charges) Regulations 1988 as amended.

It should be noted that the HTCS is an NHS scheme and local Jobcentre Plus Offices do not have any responsibilities for its operation, except for the confirmation of entitlement to benefit.

Page last modified on the 18/02/2010.