EUROPID Presentation A presentation to give an overall view of PIDs - - PowerPoint PPT Presentation

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.

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 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.

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 3

Immune Deficiences

Immunodeficiences - defects in the function

• f 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

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 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

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 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

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 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…………

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 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

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 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

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 9

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

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 10

Prevalence of PIDs in Europe

 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.

3 5 7 7 8 13 23 24 26 47

5 10 15 20 25 30 35 40 45 50

Yugoslavia Germany France Poland Hungary Portugal Czech UK Spain Sweden

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 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.

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 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

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 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

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 14

Grades of SEVERITY of Primary Immune Deficiencies

Severe Combined Immune Deficiency Antibody deficiency Partial antibody deficiency

Cells and antibodies are defective Antibody failure Only some antibodies missing

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 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)

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 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

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Subcutaneous Ig therapy in child

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Intravenous therapy at home

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 Life saving for Severe Combined

Immune Deficiency

 Need to recognise early

Bone marrow transplantation to replace immune cells

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 20

Found to lack antibodies & T immune cells Could have been saved by bone marrow transplantation BUT IT WAS TOO LATE

Need for an early diagnosis & treatment

• f a severe PID

A “healthy” baby until 4 months old, then Persistent cough Diarrhoea Growth failure Neurological regression

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 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

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 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.

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 23

Primary Immune Deficiency Diseases – where we are now

undiagnosed patients Current estimates indicate that as many as 70-90% of PI’s are still undiagnosed These patients experience unnecessary suffering and depend heavily on healthcare resources for the treatment of lifelong complications and disabilities that result from untreated PIDs

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 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.

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 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

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 26

How will a Public Health approach benefit patients in the EU?

• Create the link between existing research

programmes

• Reach out to patients & doctors

 Promote awareness as  Early diagnosis is essential to cure and

prevent long term complications and disability

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 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

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 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 7th Research Framework Programme

 Ministries of Health in all Member States

support the development of expertise to increase accurate diagnosis & eliminate senseless suffering

January 2005 - H Chapel Funded by EURO-PID-NAS QLRT-2001-02742 FP5 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