RARE DISEASES:
shaping a future with
no-one left behindTABLE OF CONTENTS

Executive Summary .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  . 4Introduction - about rare diseases  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  . 61. Key challenges in the diagnosis and care of rare diseases .  .  .  .  .  .  .  .  .  .  .  . 82. Issues in clinical development and access to treatment and care  .  .  .  .

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3. Policy priorities for rare diseases  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  . 14
4. The way forward .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  .  . 20

EXECUTIVE SUMMARY
Rare diseases are a group of conditions which affect very small numbers of people. Definitions vary,although generally a disease is considered rare if it affects fewer than 1-5 individuals per 10,000 in thegeneral population.
Most people suffering from rare diseases do not have any treatment options available for their condition.
Yet many countries do not have plans, policies or legislation to help lead research on rare diseases andimprove the management of these many conditions.
Awareness and understanding of rare diseases is often low, and many patients struggle to find adequate
information about their condition. As a result, upon diagnosis, patients may feel isolated, overwhelmed
and unsupported. The emotional, psychological and financial impact of being diagnosed and living witha rare disease is also considerable.
Traditionally, research and development of treatments for rare diseases has been neglected in favourof more common diseases. However, in the last twenty years, concerted public policy efforts have
led to a marked improvement in our understanding of many rare diseases and availability of effective
treatment options.
Rare diseases pose particular challenges for research and clinical development. This is due to thesmall numbers of patients, limited epidemiological data on the natural history of many rare diseases,
and all stages of research and development being more challenging and lengthy than for morecommon diseases.
Generally, patients face difficulties in accessing high-quality care and support. Even if treatments exist,
patients may wait several years for a correct diagnosis, and many patients are unable to receive themas often they are not reimbursed by their national health care system, or are simply not available in theircountry.
It is essential that rare diseases be seen as a policy priority in all healthcare systems. Patients with rarediseases should have the same right to treatment and care as patients with more common diseases.
Improving care for patients affected by rare diseases should therefore be prioritised by national
governments across the globe.
This brochure aims to present a clear view of the unique challenges that rare diseases present to healthcare systems, and to outline what policies may help improve their management for the benefit of patientsaround the world.

4

Key recommendations include:
Ensure rare diseases are a public health priority,
raising awareness of rare diseases among
policymakers, health care professionals and thegeneral public

Empower patients and their wider communities,
enabling better disease management and forpatients to further influence the decisions that
affect themPromote continued research and development,
building political commitment to drive research,innovation and policies for rare diseases andincreasing collaborative research efforts to enhancescientific understanding of all rare diseases

Ensure sustainable access to diagnosis,
treatment and care, improving the workforce
and infrastructure to treat rare diseases anddeveloping and strengthening legislation thatenhances access to orphan drugs

5INTRODUCTION - ABOUT RARE DISEASES
What are rare diseases?
Rare diseases are a diverse group of conditions, generally defined by the fact that very few people areaffected by them in comparison to more common conditions like diabetes or heart disease.1-3
Rare diseases tend to be severe, chronic conditions and in many cases, they are progressive, debilitating,and life-threatening.1-8 For example, 30% of rare disease patients die before the age of five.2
There is no universal definition of rare diseases,9 and countries differ in the threshold they use to definea disease as ‘rare’ (see Box 1).

BOX 1 –
Definitions of rare diseases around the world
The threshold that defines rare diseases varies by country, as can be seen in Table 1. Many
countries do not have an official definition,10 although suggested thresholds often exist.10 11 Dueto the complex nature of rare diseases, it is important that each country or region develops adefinition in the context of their own population, culture, resources and health care system.10 12
However, along with prevalence, there may also be other situations which apply for rare diseases.
For example in Japan, rare diseases are defined mainly as diseases that chronically develop, andrequire a significant amount of care from the patient and their families.13
Table 1 – Rare disease prevalence (cases per population) across various countries14-20

6

USA

EU

Japan

Singapore

RussiaAustralia

7.5 per
10,000(affecting
fewer than
200,000
people)5 per
10,000

1 per
2,500

~ 37 per100,000(affecting
fewer than
20,000patients)

1 per
10,000

1 per
10,000(affecting
fewer than
2,000
peopleper year)How many people are affected by rarediseases?
While each individual rare disease affects a small population,
it is estimated that collectively 350-400 million people
worldwide have a rare disease.21 22 Together, rare diseases
affect approximately 6-10% of the population and 3-4%of births.1 8 10 23

What causes rare diseases?
80% of rare diseases are genetic, and the rest may occur asa result of viral or bacterial infections, allergies and otherenvironmental causes.1 2 5 24

350-400 million
people worldwide

80% ofrare diseases
are genetic

How many rare diseases are there?
There are between 5,000-8,000 rare diseases, and new rarediseases are being discovered all the time.1 2 4 5 25-27 Thesediseases can affect people very differently - even people
with the same condition can have very different signs andsymptoms, or there may be many subtypes of the same
condition.1 6 8 This diversity presents a significant challenge
to healthcare practitioners and scientists alike in termsof being able to acquire sufficient experience of a given
condition for the most appropriate and timely definition,
diagnosis and management.

There are between
5,000-8,000
rare diseases

Rare cancers are a sub-group of rare diseases, and there are
198 estimated types of rare cancer. In the European Union,
rare cancers account for 22% of all cancer diagnoses.28

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1

KEY CHALLENGES IN THE DIAGNOSISAND CARE OF RARE DISEASES“No human life should be judged by a statistic – every rare disease patientdeserves treatment and support, no matter their disease or where they live.”
Prasanna Kumar B Shirol, Organisation for Rare Diseases India

Diagnosis and care key challenges presented by rare diseases:?
Delays andfrequent errors
in diagnosis,
often with severe
consequences
for patient
outcomes

Lack ofclinical
expertise,leading tovariable qualityof careFew
treatment
options
available

Limitedinformationand support
for patients

A considerable
impact on thequality of lifeof patients andtheir families

Delays to diagnosis are common, often with severe consequences
for patients.
Delays to diagnosis are commonly experienced by patients and may be due to poor awareness of rarediseases by health professionals and the small number of patients affected.
These delays in diagnosis can be significant for many patients and may lead to irreversible progressionof the patient’s condition.1 2 7 24 For example, in the UK and USA, the average time to obtain a correct
diagnosis for rare diseases was found to be 5-7 years, and in this time there were 2-3 incorrect diagnoses
for a given condition.29
As a result of incorrect and delayed diagnosis, unnecessary tests and treatments are often carried out,
sometimes at the patient’s expense8 but often also coming at a significant cost to the healthcare system.8
Patients are often left feeling frustrated and anxious, and may lose confidence in the healthcare system
as a result.1

8

Expertise in rare diseases is limited due to the rarity of these
conditions.
It is often difficult for rare disease patients to find healthcare professionals with adequate experiencein their condition to provide the best quality care.
It can be challenging for healthcare professionals to gain adequate experience in rare diseases due tothe small numbers of patients.1 However, if treatment and management are not led by specialists, thismay result in incorrect diagnosis, inappropriate treatment and poorer patient outcomes.27 30 31
Even when specialists are available, patients often must travel significant distances for treatment, atgreat cost to their families.1

Treatments are unavailable for many rare diseases.
It is estimated that 95% of rare diseases do not have a treatment option.6
The limited number of treatments available for rare diseases is possibly the greatest challenge
for patient care – and may be explained by lack of research on rare diseases and barriers in making
treatments available in different countries. (See Section 3) Lack of research on rare diseases has hindered
the development of evidence-based clinical guidelines to inform best practice.1
The different regulatory processes across the globe mean that even if a drug exists, it may not be
available in every country.

Patients often do not receive support and information to help themcope with their diagnosis and condition.
Receiving a rare disease diagnosis may have a significant psychological and emotional impact onpatients and their families.
Studies suggest that many patients feel they receive limited information and support after diagnosis.1 7 8This may be a result of wider system challenges including poor support networks and limited resources
for information, follow-up or psychological care.
Patients are often left feeling isolated, overwhelmed and in many cases deeply frustrated after theirdiagnosis. Peer-to-peer support groups may be very helpful to patients and their families. However,the small patient populations involved often mean that many rare diseases do not have support
groups available.1 2 7
There are, however, examples of organisations providing helpful support for rare disease patients andtheir families. Case Study I describes an example of a support service available in Norway.

9CASE STUDY I
Frambu Resource Centre for Rare Disorders, Norway
The Frambu Resource Centre is a multidisciplinary centre of excellence for rare disorders in
Norway, providing care for over 2,000 people each year. Its aim is to “collate, develop and impartknowledge about rare disorders and disabilities”,32 and to provide the best possible quality of life
for all rare disease patients it sees.32 33 It provides:
u Educational courses and camps for children and familiesu	Specific services for parents to help better understand and care for children withrare diseasesu Research into the patient experience and perspectives to improve services and careu Communication and outreach work within the local communityu Home visits to patients and their familiesu Advice for both patients and professionals“There is too little support for patients and their carers in dealing with the
day-to-day impact of a rare disease and how to best manage life beyond
their condition. Patient groups can meet this need; however, most areunderfunded and need greater support to fulfil their potential.”
Florá Raffai, Findacure

A rare disease diagnosis may have a considerable financial andquality of life impact on patients and their families.
The diagnosis of a rare disease is often associated with many additional and unforeseen costs. Patientsand their caregivers are also often unable to fully participate in work or education - deeply impacting
their quality of life and financial stability as a result.1 8 12 31 34
For example, it has been estimated that 61% of rare disease patients and their families in Europe haveexperienced reductions or interruptions to their professional activities.8 In many countries, there
are few government benefits or supportive policies in place to help patients with rare diseases andtheir families.10 12 31 35
Patients may also incur significant expenses for their care, linked to obtaining a second opinion, travelto specialists and adaptations to their homes.1 2 7 8 12 Delays in access to treatment, particularly in low
resource settings, may often mean that patients have to pay for drugs out-of-pocket.10 34 35
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2

ISSUES IN CLINICAL DEVELOPMENT AND
ACCESS TO TREATMENT AND CARE

“Advances in the diagnosis, treatment and care of rare diseases only began inearnest when patient groups began demanding political commitment andorphan drug legislation. Mobilising patient groups is central to change.”
Dr Durhane Wong-Rieger, Rare Diseases International

The process of drug development and approval is expensive and time-consuming and poses specificchallenges for rare diseases, ultimately affecting patients’ access to new treatments. Development oftherapies for these conditions is also challenging due to differing definitions of rare diseases between
countries (see Box 1).
To encourage pharmaceutical companies to conduct research and develop drugs for rare diseases,
the special designation of ‘orphan drugs’ has been given to medicines that treat rare diseases– with specific legislation to match.36 However, not all drugs used to treat rare diseases have anorphan designation.
Orphan drug legislation has made a significant difference to the number of treatments available for rarediseases.1 36-39 For example, in the European Union only 8 treatments were authorised for rare diseases
before the Orphan Medicinal Products Regulation was enacted, whereas since its launch, over 125
products have been authorised.40 However, treatments are still only available for approximately 5% ofrare diseases, and many challenges remain.6

Orphan drugs key challenges from discovery to patient access:?
Limited scientificknowledge of manyrare diseases to guidediscovery and earlyphase research

Difficulties inrecruiting patientsand conducting
traditional
clinical trials

Lack of expertise inrare diseases amongst
regulatory agencies,
often leading todelays in marketing
authorisation

Significant differencesin access to
medicines and highquality care between
and within countries

11

6

s

+ year

Discovery and early phase research
Greater scientific understanding of rare diseases is essential as it will leadto the development of new orphan drugs and treatments.2 11 27 30
As mentioned above, inadequate knowledge and understanding of thecauses and clinical progression of rare diseases may make it difficult
to determine the best strategy for targeting a given condition.5 6 36
Also, research efforts are often scattered with little overarching organisation
between groups,1 9 27 41 which may result in duplication of research. This may,in turn, slow down research efforts and possibly the development of new
drugs for rare diseases.

Discovery anddevelopment takes
approximately
6 years for
medicines
for common
conditions.
It can take much
longer for rarediseases.

Clinical trials
Clinical trials are designed to test if a new medicine is effective and safe
for use in humans. Specific challenges for clinical trials in rare diseases are:u	Small patient populations make recruitment of sufficient participantsdifficult, making it challenging to obtain statistically significant results.5 6u	Patients may be spread across large geographic regions, making trials
expensive and complex to run.36u	A large proportion of rare diseases affect children, often in very small
numbers, and they need special considerations in clinical trials.6u	There are often no other available treatments for a rare disease.
However, using a placebo as a comparison in a clinical trial may
present ethical challenges if the new product is very effective.36 Thisis a challenge for other diseases as well, but is a much more common
occurrence for rare diseases.

Clinical trials
are very lengthy
and pose many
challenges for morecommon diseases.
However, rarediseases present theirown set of issues andobstacles, making
clinical trials morechallenging to run.

Registration and marketing authorisation
In order to bring new medicines to market, registration or marketing
authorisation must be obtained in each country. Regulatory processes
differ considerably between countries, resulting in significant variations
in when potentially life-saving medicines become available to patients.9
24 27 36 37 39 42 43

Existing regulatory processes are often ill-suited for rare diseases. For
example, regulators and their advisors often lack expertise on given rarediseases, causing significant delays in the regulatory approval process.36 37
In addition, countries do not have legislation to promote the registrationand marketing approval for orphan drugs. Patients in these countries are
therefore forced to access medicines through other means, some of which
are described in Case Study II.
12Registrationand marketing
authorisation isa lengthy process
for all medicines,
but for rarediseases processes
may be difficult
to streamline.

CASE STUDY I I
Increasing access to orphan medicines in Turkey
As of yet, there is no Turkish legislation to promote the development and marketing of orphan
drugs,42 and so equitable access to care and treatments is a significant challenge. In the absenceof approved medicines, patients must gain access to treatment via other means including:42 44 45u	Named-patient imports – medicines can be imported for personal use by the patient’s
physician if approved for use in other major regions. Permission for this is granted on a caseby-case basisu	Off-label use – drugs which are approved by the Turkish Medicines and Medical Devices
Agency for a given indication are used to treat a rare diseaseu	Compassionate use programme – medicines which are currently going through phase 3 trials
overseas can be used in Turkey if there are no existing Turkish trials

Access to high quality, safe and effective treatment
Even once a new medicine is approved, it is not necessarily available immediately to patients. Eachcountry must decide whether it will fund or reimburse each drug and this can be a lengthy process.
Delays in access may depend on who is paying for new treatments - governments, private insurance or
patients. In some countries, these decisions take place at the regional level, which may further delay thetime it takes for new treatments to reach patients.36
In addition, existing access processes are often not adapted to the specific challenges of rare diseases
and orphan drugs, leaving patients responsible for paying out-of-pocket for new treatments, often withcrippling financial consequences.36 37
As comprehensive and structured reimbursement or regulatory processes are rare, particularly in low- andmiddle-income countries, many patients do not have access to treatment. And as such, in some places
the only way to gain access to treatment has been through litigation and court cases, such as in Brazil
and India.31 46

General access to high quality care
Even when medicines are available, patients may face challenges in obtaining high-quality and timely
diagnosis, care and support due to lack of available specialist services.1 2 8 27 30 31 (See Section 1)
Few rare diseases have clinical guidelines for best practice, challenging the provision of optimal carefor patients.1 Even when guidelines exist, healthcare practitioners may not be aware or fully trained on
their contents.
Due to the often complex nature of their condition, it has been recommended that rare disease patientsbe managed by a multidisciplinary team.47-49 However, in many cases this does not happen, contributing
to poorer outcomes for patients.1 7
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3

POLICY PRIORITIES FOR RARE DISEASESIn light of the challenges identified previously, there is a clear need for continued political commitment
to improve the care offered to patients with rare diseases.
Key policy priorities for rare diseases are listed in the table below and described in more detail in thefollowing section.

Ensure rare diseases are a public health priority,
raising awareness of rare diseases among
policymakers, health care professionals and thegeneral public

Empower patients and their wider communities,
enabling better disease management and forpatients to further influence the decisions that
affect themPromote continued research and development,
building political commitment to drive research,innovation and policies for rare diseases andincreasing collaborative research efforts to enhancescientific understanding of all rare diseases

Ensure sustainable access to diagnosis,
treatment and care, improving the workforce
and infrastructure to treat rare diseases anddeveloping and strengthening legislation thatenhances access to orphan drugs

14Ensure rare diseases are a public health priority
Awareness of rare diseases needs to be increased
Awareness of rare diseases is often low and greater public and political awareness of these conditions
is essential to adequately support those affected by rare diseases.
Political awareness is essential to create supportive policies for rare disease patients, such as
legislation on equal access to healthcare, orphan drugs, or employment and education for
individuals with disabilities.1 12
Increased awareness in the general public may also help prevent some cases of rare diseases
caused by various cultural and social practices such as consanguineous marriages (e.g. marriages
between cousins).10 44
Rare Disease Day exists to raise awareness of rare diseases and of their impact on the lives of patients(see Case Study III), but much more can be done to increase the awareness of rare diseases.

CASE STUDY I I I
Rare Disease Day
Rare Disease Day was initiated in Europe by EURORDIS, but over the past 10 years it has grownsignificantly and now over 80 countries participate in awareness raising activities and events.50
EURORDIS works closely with patient organisations around the day, which takes place on thelast day of February each year and aims to raise awareness and increase understanding of rarediseases amongst the general public, researchers and policymakers across the globe.
Establishing Rare Disease Day has been essential to create the political momentum andcommitment necessary to help rare disease patients to access new medicines and the best
possible care. Its establishment and ongoing actions has contributed to the development of
national plans, strategies and policies for rare diseases in a number of countries.50

15

Patients and caregivers need to be empowered as experts in theirrare disease
Due to the limited support and information in place, patients often must become experts and advocatesin their own condition. Patients should therefore be further supported to engage with and shape thepolicies and systems which affect them.
Patients and carers have unique insights and perspectives that should be better heard throughout
research and development, regulatory processes, campaigns and policy development. Efforts suchas establishing more patient groups, either in person or on social media, and developing educational
materials and supportive policies across all sectors will be central to better empowering patients todrive change.

“Findacure strongly believes that patient groups have a fundamental roleto play in addressing needs and advocating for what matters. Any change
intended to benefit patients must include them in the process.”
Florá Raffai, Findacure“At the Tuberous Sclerosis Alliance, we believe collaboration between those
we serve with tuberous sclerosis complex, healthcare providers, researchersand funding organizations is crucial in our efforts to ensure a better future
and more meaningful treatment options.”
Jaye Isham, Tuberous Sclerosis Alliance16

Promote continued research and development forrare diseases
Greater collaboration at all levels is needed to help drive researchand improve care
Significant collaboration and cooperation between scientists, politicians and policymakers, healthcare
practitioners and patients is essential to continue to drive new research and improve care.9 51
International research groups are leading the way in research, such as the International Rare Diseases
Research Consortium (IRDiRC), which aims to develop diagnostic processes for most rare diseases
and 200 new therapies by 2020.52 Another example of collaboration at a national level can be seen inCase Study IV.
However, the vast majority of rare diseases still do not have a treatment,6 and further prioritisationof research and collaboration is essential to provide treatment options and improve care for all raredisease patients.

CASE STUDY I V
Chinese Rare Diseases Research Consortium
The Chinese Rare Disease Research Consortium (CRDRC) was established in 2013 by the
Huazhong University of Science and Technology. Over 20 universities are involved in research
efforts, collaborating and enhancing the research base for rare diseases in China throughthe establishment of a rare disease registry and focusing on research and development oftherapies for rare diseases. The CRDRC is a member of the wider International Rare Diseases
Research Consortium.35 53“IRDiRC is focused on exponential improvement in the efficiency andeffectiveness of rare diseases research, diagnosis, and treatment. The
increased participation of global partners in this endeavor is key to the goalof a true international rare diseases research community and improved
health of rare disease patients worldwide.“International Rare Diseases Research Consortium (IRDiRC)

17

Ensure sustainable access to diagnosis, treatment
and careInequalities in access to treatment and care must be reduced
Efforts to reduce inequalities in access to care and treatment will require strong political will in lightof limited resources.12 31 35
Access to treatments and care are often restricted to those who can afford to pay for their care or thoseable to travel to receive expert advice.1 54 Inequalities in access such as these are regularly seen withincountries as well as between countries,24 36 37 driven by limited availability of specialists and differing
regulatory and reimbursement processes. (See Sections 2 and 3)

Legislation is required to continue to increase access to orphan drugs
It is important to develop orphan drug and rare disease legislation in countries without such frameworks,
and to strengthen and improve existing regulatory processes - particularly as our understanding ofrare diseases increases.34 55
The Orphan Drug Act of 1983 in the United States of America was the first piece of legislation to recognise
the lack of treatments for rare disease patients and the urgent need to prioritise these diseases in drug
development.18 A number of countries have followed suit with legislation and incentives, (Box 2) whichhave led to significant improvements in treatment options for rare disease patients.

BOX 2 –
Orphan drug legislation timeline

1983 1991 1993 1997 2000 2003 2014

USA

SingaporeJapan

Australia

EU

South Korea

BrazilTaiwanOther countries are actively promoting regulation of rare diseases and orphan drugs. For example,
many countries in south east Asia are in the process of drafting legislation.27 However, many
countries across the globe are still lacking legislation or even definitions for rare diseases.
18

Investment in the health workforce and infrastructure for rarediseases is needed
Limited expertise and infrastructure for the diagnosis and management in rare diseases is a continuous
challenge for rare disease patients.
To decrease inequalities in access to treatment, it is essential to invest in the health workforce andsupport specialisation in rare diseases and genetics in every country.10 31 35 Additionally, improving
physical resources for the diagnosis and management of rare diseases, such as genetic testing,newborn screening and pathology, may improve the diagnosis and prevention of rare diseases.10 31 35“Advocacy should not just stop at legislation. Patients and advocacy groups
need to continuously push for greater awareness, better understandingof treatment inequalities and demand continuous improvements andinvestments in care from national and regional decision makers.”
Advocacy Service for Rare and Intractable Diseases’ stakeholders - ASrid Japan

19

4

THE WAY FORWARD“Collaboration between national and international patient organisations,research groups and international players, like the United Nation and theWorld Health Organization, can help support every country, regardless of
size, wealth or health service development, to include rare diseases in theiragenda.”Dr Durhane Wong-Rieger, Rare Diseases International

In recent years, there have been significant advances in the understanding and treatment of rare diseases,
and patient advocacy has been central to these developments. Despite this progress, much work stillneeds to be done to reduce the unmet needs of patients and their families.
Many policymakers may not be aware of the various challenges faced by patients to obtain a diagnosis
or adequate treatment. Awareness raising efforts are essential to ensuring that rare diseases are seen
as a key public health priority.
Access to treatment remains a key issue for rare disease patients across the globe, and stakeholders
must work together to establish rare diseases as a global priority on the health agenda and increase
equitable access to treatment and care.
Existing knowledge and understanding of rare diseases must be shared. Collaboration between all
stakeholders is critical to make the best possible use of existing understanding and ensure that efforts
are not duplicated.
The unique expertise and insights provided by patients should be integrated into research and policies,
allowing patients to help shape the decisions and policies to meet their specific needs.
Enabling legislation to facilitate the development and access to orphan drugs must be continued.
Regulatory processes should continue to be improved and efforts are needed to reduce inequalities inaccess to treatment and all aspects of care.
Rare diseases are a key health challenge that should not be ignored. A supportive global, regionaland national policy environment is essential to ensure that patients receive the high-quality specialised
diagnosis, care and support that is essential to manage their condition - and to offer the 95% of patients
who still have no treatment options available to them a chance at improved outcomes and better qualityof life.

20

5

ABOUT IFPMAIFPMA represents research-based pharmaceutical companies and associations across the globe. The
industry’s 2 million employees research, develop and provide medicines and vaccines that improve
the life of patients worldwide. Based in Geneva, IFPMA has official relations with the United Nations
and contributes industry expertise to help the global health community find solutions that improveglobal health.
The IFPMA Rare Diseases Working Group was established to recognise the importance of addressing
the unmet needs in rare diseases around the world. It aims to support the rare disease community
through focused activities in four critical areas: awareness, incentives, partnerships and access.
The vision of its members is to promote equitable and timely patient access to the tools and solutions
that are essential for the management of rare diseases. Based on shared experiences, Members propose
guiding principles to inform and help improve the policy environment to enable better care for all raredisease patients.

21

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February 2017
This project was managed by Vanessa Peberdy with drafting support from the Health Policy Partnership.

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