Leaving no-one behind:a set of policy principles tomeet the global challenge ofRARE DISEASESINTRODUCTION

Globally, some
7,000 rarediseases havebeen identified

350 million
people are
estimated to be
impacted byrare diseases
worldwide2

Rare diseases pose unique challenges to patients,
their families, society, healthcare professionals
and healthcare systems. Globally, some 7,000 rarediseases have been identified. Positively, a numberof significant events in the global policy agenda havehelped to give more momentum to rare diseases, suchas the UN 2030 Agenda and Sustainable Development
Goals (SDGs) and the drive towards universal healthcoverage, which are centred around leaving no-one
behind, as well as the recent establishment of theNGO Committee for Rare Diseases. Despite such
advancements, many countries do not have tailoredpolicy frameworks today and there still is a large
unmet medical need: of the known rare diseases, it
is estimated that only 5% have a licensed treatment.
This is due to the fact that a single condition
affects relatively few patients worldwide. However
globally, the total number of patients impacted byrare diseases is estimated to be 350 million people,
approximately 5% of the world population. As such,
IFPMA members believe that a shift in mindset isrequired whereby rare diseases are not considered
in isolation but rather regarded as a significant factor
within health policy frameworks.

Most rarediseases aregenetic

Most rare diseases are genetic and can beassociated with life-long disability, often starting inchildhood. Many are chronic, degenerative and lifethreatening conditions. Many rare disease patientsare undiagnosed. A supportive policy environment istherefore necessary to foster greater understandingof these diseases and how they impact patients, tostimulate more research, to encourage appropriate
disease management and empower patients andtheir wider communities.

Our vision is to promote equitable and timely
access to the tools and the appropriate healthcare
infrastructure and supportive care that patients needto manage their diseases. Our Members believe thateach person with a rare disease should expect to betreated with dignity and appropriate care, and we
propose guiding principles that would contributetowards the design of a global policy ecosystemthat recognises the need to improve the lives ofpatients with rare diseases.

3POLICY PRINCIPLES
Ensuring rare diseases
are a public health priority
Addressing the needs of rare disease patients should be a public health priority. Public
policy support is crucial to stimulate and accelerate the actions required to improverare disease care. Patients should have equitable and timely access to the information,
services and products they require to manage their disease. A prerequisite to patient
access to treatment, including medicines, is access to healthcare professionals anda healthcare infrastructure that fosters the correct diagnosis and can administer
appropriate, ongoing disease management.

The International Rare Diseases Research Consortium (IRDiRC) has teamed
up researchers and organizations investing in rare diseases research inorder to achieve two main objectives by the year 2020 - to deliver 200 new
therapies for rare diseases and the means to diagnose most rare diseases.

The road to an enabling environment for rare diseases:
Rare disease should be a public health priority. Globally, the number of patients
impacted by rare diseases is estimated to be 350 million people, approximately 5% of
the world population. Rare disease patients experience a mix of sensory, motor, mental
and physical impairments which could be better addressed by the implementation of
appropriate, patient-centered, public policies which incorporate rare disease care into
health system design strategies.

4Empowering patients andtheir wider communities
Rare disease patients should be empowered to play a greater role in managing theirdisease and influencing decisions that affect them. Due to the complexity of rarediseases and their severe debilitating and often life-threatening nature, patients havea unique insight that should be better understood and harnessed.

As the umbrella organisation for rare diseases in Europe, EURORDIS
represents patients on committees such as the European Union Committeeof Experts on Rare Diseases, the European Medicines Agency scientificcommittees and working parties and the International Rare Disease ResearchConsortium (IRDiRC). 1

The road to patient empowerment:u ore access to information on their disease and management. Patient-centredM
communication is critical to bring the patients closer to the scientific and politicalcommunities and inform further research and policy outcomes. Disease awarenessand patient-led education initiatives also can help to reduce the misdiagnosis
rate, which is often high within rare diseases, and guide patients to the mostappropriate treatments.

u	More emphasis on patient-reported outcomes registries. Patient registries areinvaluable in helping to translate basic and clinical research into therapeutic solutions.
By complementing clinician-reported data, patient-reported outcomes will also help toimprove the robustness, comprehensiveness and quality of registries.
u reater involvement in clinical research and evidence-based decision making.
GPatients and their caregivers are often very well-educated about their conditions, andcan help to bring patient perspectives to the healthcare professionals who they go tofor care. Patient networks are therefore often drivers of R&D and when involved early
on in clinical trial participation and design, can have a significantly positive impact on
drug development.

u	Greater involvement in service configuration for rare disease care. Patients and theirfamilies face numerous challenges in managing their conditions, including, for example,
delays in getting diagnosed, finding appropriate specialist providers, or getting help
at home or personal care.
u nable patients to be partners in regulatory decision making. Rare disease patientsEshould have a meaningful voice in regulatory and reimbursement assessments.

1.	Mavris, M. and Le Cam, Y. (2012), “Involvement of Patient Organizations in Research and Developmentof Orphan Drugs for Rare Diseases in Europe”, Molecular Syndromology, 2012 Nov; 3(5), 237-243
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3531929/

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POLICY PRINCIPLES
Promoting continued Research andDevelopment (R&D)
Although considerable progress has been made in the field of rare diseases, themajority of patients suffering from any one of the 7,000 or so rare diseases still haveno effective treatment options. An enabling environment, including a supportive
regulatory and intellectual property (IP) framework, as well as the commitment ofhealthcare services to invest in better care for patients with rare diseases, provides
the confidence and stability required to nurture investment and stimulate change.
International research collaboration efforts across all fields of biomedical research arealso key to discovering more treatments for patients with rare diseases.
There are various examples of where the development of orphan drug
legislation has helped to promote and support research in the area of rarediseases. Since the introduction of a key regulatory provision in the UnitedStates of America in 1983 – the Orphan Drug Act – over 500 orphan drugs
have been approved by the US Food and Drug Administration (FDA).2

The road to fostering further R&D:u	Greater collaboration between profit and not-for profit rare disease researchers. It isnot just the diseases which are rare; expertise is as well. International collaboration has
an even higher added-value in the case of rare diseases and is of major importancegiven their specificity – in other words, the limited number of patients and scarcity
of expertise. Knowledge must be shared and resources combined as efficiently as
possible to tackle rare diseases effectively as a whole.
u	Funding for basic research. Basic research is crucial for identifying the causes andmolecular mechanisms of rare diseases, associated disease targets and the developmentof diagnostics methods. However, funding for basic research on conditions that affectsmall numbers of people is often scarce.

6u egulatory frameworks should enable innovation. Due to the high unmet need facedRby many rare disease patients, orphan drugs are often granted breakthrough therapy
designation and faster approvals. Trial feasibility and finding other flexible solutions to
the logistical challenges of clinical development should also be considered by regulatory
authorities. Rare diseases pose unique challenges to the clinical development process,such as finding a sufficient number of people to participate in clinical trials, or evenonce they have been identified, addressing other barriers to participation such as
frequent travel requirements or overly restrictive inclusion criteria.

u arly dialogue with regulatory authorities. Orphan drug development would alsoE
benefit from early and continuous dialogue between applicants and regulatory
authorities. The ability to react flexibly and in a timely manner to unforeseen challenges
during the development process increases the chances of a successful registration andwith that the availability of novel drugs for patients with high unmet medical need.

u etter collection of data and use of disease registries. Data sharing is particularlyB
important in rare disease research, as small numbers of patients can be barriers toachieving major breakthroughs. Patient registries are critical tools to inform clinicalresearch, to help identify R&D priorities, and orient and optimize rare disease careenvironments. A registry regularly updated with high-quality data for each rare disease
will make it easier to assess the efficacy of a drug in larger numbers of patients andprovide valuable feedback on the effects of a drug.

2.	PhRMA (2016), “Great Strides Against Rare Diseases”
http://phrma-docs.phrma.org/sites/default/files/pdf/great-strides-against-rare-diseases.pdf

Ensuring sustainable patient access todiagnosis, treatment and care
Fragmented health systems can often lead to patients not being able to accessadequate ongoing care and disease management, which remains crucial for people
with rare diseases even where no treatment is available. Better integration of thedifferent components of a health system and improved coordination of individual carewould enhance the quality of life for people with rare diseases. A multidisciplinary
approach to providing care is critical.
Significant strides have been made in some geographies in improving accessto specialised care and healthcare provision for patients with rare diseases.
For example, nearly all countries in the European Union have now establishedCentres of Expertise (CEs), which are physical expert structures for themanagement and care of rare disease patients and which are recognised asa solution to the challenge of providing effective healthcare to rare diseasepatients.

The road to accessing better care:u reater knowledge and awareness of rare diseases by healthcare practitioners (HCPs).
G
Physicians (both primary care and specialists) have limited resources and information
to properly diagnose and manage patients with rare diseases, compared with morecommon diseases. At the same time, HCPs have a key role in supporting patients witha rare disease, across the life course. They play a central role in coordinating care andbrokering linkages with specialist health and social support services. It is therefore
important that they have access to accurate, locally relevant information that canassist them in making the right diagnosis.

u creening and better diagnostic testing. Making diseases easy to diagnose at an early
Sstage can have a significant positive impact on a patient’s life, even in the absenceof an adequate treatment. Diagnosis in particular represents an important tool inreducing the burden of rare disease. It can take an average of five years for a patient toreceive a proper diagnosis. In the meantime, misdiagnosis can have significant impacts
on healthcare systems and resources, leading to severe consequences including
inappropriate and costly medical interventions such as surgery and psychologicaltreatment.

u pecialized support services. Patient access to specialized services is critical. HealthSsystems should be able to integrate support services specific to rare diseases into
existing ones, in particular taking account of the consequences and disabilities thatrare disease patients suffer due to their conditions.

Where treatment options exist, all stakeholders must work in a collaborative way tofind a sustainable way of ensuring patients have access to the treatments they require.
Given the different nature and maturity of national healthcare systems, solutions must
be tailored. Experience in the treatment of other disease areas has demonstrated thatby working in a multistakeholder partnership, solutions can be found to enable patient
access.
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