EUROPID Presentation A presentation to give an overall view of PIDs in Europe. This has been presented at the EU Parliament and can be translated for use in support of national requests for funding PID services.
Immune system The major role of the IMMUNE SYSTEM is the defense of the host. The most important function is the fight against infections. Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 2
Immune Deficiences Immunodeficiences - defects in the function of immune system Primary - PID genetic disorders, mutation in genes coding for immune system components; they can be, and often are, inherited Secondary - deficiences caused by other conditions, for example AIDS or excessive malnutrition Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 3
How do Primary Immunodeficiencies happen? PID are mostly genetic - so they are present in families Patients do not “catch” them - Infants are born with the disease, though it may not be apparent until adulthood, as found in diabetes So babies, children & adults can be affected Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 4
The immune system is complex Immune system uses mechanisms that developed over billions of years The result is that there are very many genes that can go wrong i.e. mutate If a pathway no longer functions after a mutation that involves immunity, a PRIMARY IMMUNE DEFICIENCY results Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 5
The result for the patient is Severe and recurrent infections with common bugs a LIFE TIME of frequent infections, hospitalisation and in some cases, intensive care The result for healthcare system is Costly use of healthcare resources because………… Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 6
The patients suffer ……. RECURRENT infections lifelong SEVERE infections – bad enough to be in hospital/ intensive care or leading to lifelong disability or, rarely, to die even if treated PERSISTENT infections - many months off work or school, due to infections that antibiotics do not cure, despite several & types of antibiotics Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 7
PIDs are common, but easily missed The correct diagnosis of PID is easily missed if it is not thought about Often each infection is treated, but no-one thinks about an underlying cause Tests to make the diagnosis are cheap & widely available - [3- 9 euros for a test]: it’s awareness of PIDs which is missing Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 8
A European register of PIDs This was put together by ESID www.esid.org over 10 years ago 26 countries entered a total of >10,000 patients in this period Now an online register has started to capture more patients in more countries in Europe Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 9
Prevalence of PIDs in Europe 47 50 45 40 35 26 24 30 23 25 20 13 15 8 7 7 5 10 3 5 0 Spain Sweden Yugoslavia Germany France Poland Portugal Czech UK Hungary This graph shows the number of PID patients in the ESID register per million in each country. It is an indication of how aware different countries are of these conditions. Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 10
As is shown in last graph.. Number of PID patients per million population is variable: 5 per million in Germany to 47 per million in Sweden An appropriate mean for PID patients needing immediate treatment seems to be 25 per million There are at least twice as many patients with milder types of PID for whom medical attention and treatment are also needed. Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 11
What does this mean? Sweden has highest prevalence; are they using different diagnostic criteria ? ESID is working on standardised criteria Is the rest of Europe is too low and are there patients with PID who haven’t been diagnosed? Yes - We need improved awareness of PIDs (medical and lay) & access to specialist centres for PID patients Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 12
Are all PIDs equally severe? NO - they differ widely in the severity of the disease…. the severity reflects the extent of the immunodeficiency The most severe PID leads to the death before the age of 2 years - as both immune cells & antibodies are missing On the other side of the spectrum, partial antibody deficiency causes milder, but still repeated, infections Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 13
Grades of SEVERITY of Primary Immune Deficiencies Cells and antibodies are defective Antibody failure Only some antibodies missing Severe Combined Antibody deficiency Partial antibody Immune Deficiency deficiency Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 14
Treatment depends on what is missing ; cells/antibodies/both Replacement of protective antibodies by immunoglobulin therapy (since 1952) Bone marrow transplantation to replacement of immune cells (since 1968) Gene therapy to replace genes of the immune system (since 1990, and successfully since 2001) Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 15
Replacement of antibodies by Immunoglobulin therapy Two routes Intravenous Subcutaneous Patients can be trained to give their own infusions at home, under a Home Therapy programme Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 16
Subcutaneous Ig therapy in child Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 17
Intravenous therapy at home Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 18
Bone marrow transplantation to replace immune cells Life saving for Severe Combined Immune Deficiency Need to recognise early Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 19
Need for an early diagnosis & treatment of a severe PID A “healthy” baby until 4 months old, then Persistent cough Diarrhoea Growth failure Neurological regression Found to lack antibodies & T immune cells Could have been saved by bone marrow transplantation BUT IT WAS TOO LATE Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 20
Benefits of early diagnosis and optimal treatment by bone marrow transplant Afterwards the genetic defect was found Parents informed that there was a 25% chance that this could occur again in any pregnancy Prenatal diagnosis was done when the mother was pregnant next time Another affected foetus BUT this time a chance to save the baby’s life Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 21
Benefits of optimal treatment • Transplant done in utero , using dad’s bone marrow stem cells • A healthy 2.8 Kg baby was delivered at 38 weeks of gestation - he has dad’s immune system. • Home at 2 weeks - normal immune function • Now 6 six years old, healthy & lives at home. In first grade at elementary school;well. • No need for drugs - an active child. Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 22
Primary Immune Deficiency Diseases – where we are now Current estimates indicate that as many as 70-90% of PI’s are still undiagnosed undiagnosed patients These patients experience unnecessary suffering and depend heavily on healthcare resources for the treatment of lifelong complications and disabilities that result from untreated PIDs Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 23
The EU’s Public Health Programme – why PI’s are relevant The EU’s Public Health Programme priorities include: improving information & knowledge for the development of public health strategies promoting health, & so preventing disease Immune deficiency diseases are a clear area where lack of information/knowledge among doctors, sufferers and parents of sufferers is a barrier to the promotion of health and disease prevention. Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 24
The EU’s contribution to PID’s so far….. EU research grants in 4th and 5th Research Frameworks Enabled setting up the ESID register for PIDs Linked expert centers in Europe for sharing data, describing new diseases & coordinating treatments Improved understanding of mechanisms of disease - led to first clinical success of gene therapy in SCID in several countries & sharing of protocols and experience in Italy, France, UK Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 25
How will a Public Health approach benefit patients in the EU? o Create the link between existing research programmes o Reach out to patients & doctors Promote awareness as Early diagnosis is essential to cure and prevent long term complications and disability Funded by EURO-PID-NAS January 2005 - H Chapel QLRT-2001-02742 FP5 26
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