EUROPID Presentation

Transcription

1 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.

2 Immune system The major role of the IMMUNE SYSTEM is the defense of the host. The most important function is the fight against infections. QLRT FP5 2

3 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 QLRT FP5 3

4 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 QLRT FP5 4

5 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 QLRT FP5 5

6 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 QLRT FP5 6

7 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 QLRT FP5 7

8 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 QLRT FP5 8

9 A European register of PIDs This was put together by ESID 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 QLRT FP5 9

10 Prevalence of PIDs in Europe Yugoslavia Germany France Poland Hungary Portugal Czech UK Spain Sweden 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. QLRT FP5 10

11 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. QLRT FP5 11

12 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 QLRT FP5 12

13 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 QLRT FP5 13

14 Grades of SEVERITY of Primary Immune Deficiencies Cells and antibodies are defective Antibody failure Only some antibodies missing Severe Combined Immune Deficiency Antibody deficiency Partial antibody deficiency QLRT FP5 14

15 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) QLRT FP5 15

16 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 QLRT FP5 16

17 Subcutaneous Ig therapy in child QLRT FP5 17

18 Intravenous therapy at home QLRT FP5 18

19 Bone marrow transplantation to replace immune cells Life saving for Severe Combined Immune Deficiency Need to recognise early QLRT FP5 19

20 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 QLRT FP5 20

21 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 QLRT FP5 21

22 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. QLRT FP5 22

23 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 QLRT FP5 23

24 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. QLRT FP5 24

25 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 QLRT FP5 25

26 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 QLRT FP5 26

27 How will a Public Health approach benefit patients in the EU? Provide equal opportunities Set up systems that reduce unequal access to diagnosis & treatment in Europe Monitor efficacy and safety of interventions Build on and extend registries already in place Ensure information used can be utilised effectively by physicians QLRT FP5 27

28 European Parliament Directive 2004 PIDs - priority for Action in Rare Diseases, within the 2005 Work Plan of the Public Health Programme PIDs - included as part of the Life Sciences Programme within 7 th Research Framework Programme Ministries of Health in all Member States support the development of expertise to increase accurate diagnosis & eliminate senseless suffering QLRT FP5 28

29 Educational Opportunities ESID spring and summer schools For teaching and training young clinicians and scientists Primary goal of education on all aspects of primary immunodeficiencies Educational symposia ESID meetings with International Patient Organisation of Primary Immunodeficiencies (IPOPI) & International Nursing Group for Immunodeficiencies (INGID) Educational exchanges across Europe QLRT FP5 29