SUU, Alm.del - 2022-23 (2. samling) - Bilag 82: Invitation til Nordic Rare Disease Summit 2023.

Sundhedsudvalget 2022-23 (2. samling)
SUU Alm.del Bilag 82
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ROADMAP FOR

RARE DISEASES

The Nordic Rare Disease Summit, organized as a virtual meeting on 12

and 13

of April 2021, gathered a wide range of rare

disease experts, decision-

and policymakers as well as representatives from NGO’s, patient organizations, academia and

industry from across the Nordic countries. All coming together to debate how to best overcome the special challenges

characterizing the rare disease area.

This Nordic Roadmap for Rare Diseases sums up key messages, discussions and new knowledge from the summit

–

with an

aspiration to provide policy guidance relevant for the Nordic countries, recommendations for future co-operation and a

shared call for action.

WHAT WE ARE FACING:

The special

challenges of rare diseases are…

The summit discussions revolved around three overarching

themes “Diagnostic Delay”, “Patient Empowerment” and

“Patients’ Access to Innovation”. Despite progress in these

areas, a stronger focus and an increased collaboration

amongst all stakeholders is needed to enable better lives for

people living with a rare disease. This need is reinforced by

the COVID-19 pandemic which has negatively impacted

quality of life and challenged access to necessary care.

Diagnostic Delay

The journey to diagnosis for people with rare diseases can

often be long and uncertain. On average it takes six to eight

years before a person with a rare disease receives the correct

diagnosis and more than 40% of rare disease patients are

misdiagnosed at initial presentation.

1,2,3

Due to the rarity of the diseases there is limited awareness

and knowledge of the signs and the symptoms of rare

diseases. Most physicians will only see a small number of

people with a rare disease, which makes it difficult to build up

the necessary clinical knowledge and experience to recognize

the symptoms.

In addition, the cooperation and pooling of knowledge across

expertise areas and across countries is unsystematic and

therefore the potential for knowledge exchange between

healthcare specialists remains untapped.

The issue of diagnostic delay and the need for better tools,

knowledge and cooperation to secure earlier diagnosis of

people with rare diseases was elaborated throughout the

summit.

Need for patient empowerment

Due to low prevalence, lack of expertise and poor quality of

life amongst many people living with a rare disease,

empowerment plays a crucial role.

Patients and their relatives hold unique knowledge of living

with a rare disease and should be involved and consulted on

all levels.

. There is a need for empowerment on individual

patient level in the form of personal skills and knowledge, on

community level in the form of mutual support groups,

information sharing and coalition building, and on policy level

to improve the shaping, prioritization and implementation of

policies targeted people with rare diseases.

These needs are far from met today. People living with rare

diseases are facing a lack of involvement and empowerment,

and more can be done to develop disease specific

information, guidelines and tools to strengthen patient

engagement.

Uneven access to innovative and adequate treatment

Rare

diseases typically have few

–

or no

–

treatment options, and

too often people living with a rare disease have delayed or

no access to the treatment they need.

In the Nordic region, the assessment systems are typically not

designed for rare diseases, and they often take a narrow

approach to assessing the value of new treatments

. The

current approach lacks a holistic view, that in a consistent

way includes patient experiences, preferences, needs and life

quality when assessing the value and price. The populations

are small, and rare disease trials often lack the large scale

datasets, which are requested by the authorities to

demonstrate treatment value. Consequently, some innovative

treatments for rare diseases never make it to the patients,

who need them most. At the summit, it was recognized that

delays and failure to gain access to innovative treatments

may root in insufficient assessment systems.

Diseases Europe

5 Nordic Rare Disease Summit

–

An Assessment of Alignment of P&R Systems with the

ORPH-VAL Principles, DOLON March 2021

1 Ronicke S, et al. Orphanet J Rare Dis 2019;14(1):69.

2 Vandeborne L, et al. Orphanet J Rare Dis 2019;14(1):99.

3 The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease

4 Marta De Santis, Clara Hervas, Ariane Weinman, Valentina Bottarelli, National

Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy, EURORDIS

–

Rare

SUU, Alm.del - 2022-23 (2. samling) - Bilag 82: Invitation til Nordic Rare Disease Summit 2023.

WHAT WE SHOULD STRIVE TO DO:

We can overcome the special challenges of rare

diseases by…

At the summit leading experts shared best practices and

reflected on potential solutions to the challenges of rare

diseases.

Securing access to innovative treatment

As part of addressing the unmet medical needs of people

living with rare diseases, we need to break the access

deadlock by recognizing value of treatment in a holistic way

and paying for innovation that adds true value for patients,

while securing financially sustainable healthcare systems.

The assessment processes across the Nordic region need to

be more transparent and must take the often limited

Securing advanced diagnosing

evidence of effect for medicines for rare diseases into

The improvement of diagnosis relies on innovative

account. Linked to this, a holistic view of patient value should

approaches, where technology innovators, patient advocates, be implemented considering all relevant elements of product

healthcare providers and researchers cooperate to tackle the value, e.g. quality of life, societal preferences, rarity, budget

challenge of rare disease diagnostics. This cooperation should impact and sustainability of innovation in rare diseases. The

be supported by European Reference Networks in EU as much expertise of health care professionals and patient groups

as in wider Europe, which can provide doctors with a

should be systematically integrated.

structure for sharing experiences and knowledge in an

efficient way. ERNs can serve as databases where healthcare Access to treatment could also be supported by provision of

professionals can find the right information at the right time.

funding at national level and by combining immediate access

for patients with models that allows for controlled uptake,

To shorten the journey towards accurate and timely diagnosis risk-sharing and on-going assessment of added value through

it is necessary to invest in pioneering diagnostic platforms and use of real world evidence.

exploit digital innovation to find new solutions. Timely

diagnosis requires timely action, and we need to include and

National plans and strategies for rare diseases to secure

offer neo natal screening programs systematically in all

progress and commitment in all areas

Nordic countries. Further, all countries need to secure

Despite an increased acknowledgement of the importance of

implementation of innovative technologies and easily

a national strategy for rare diseases, the implementation,

accessible information hotlines for HCPs and patients. Finally, including the financial support and political willingness, still

we need to implement internationally harmonised coding

varies within the Nordic countries. To overcome the

systems for rare diseases like OrphaCodes and establish

challenges, all countries need to commit themselves to set

registries on a national, regional and international level.

ambitious goals and monitor the implementation and effect

of the existing and future plans and strategies, including any

Empowering patients at all levels

additional challenges resulting from the COVID-19 pandemic.

Further, establishment of rare disease registries is an

Patients’ knowledge and expertise should be recognized and

important step towards achieving sufficient data that can

promoted as a resource on all levels of the healthcare

improve diagnostics and care.

systems: At micro level, empowerment will serve as a

resource for patients and their relatives to gain greater

control over decisions and actions concerning their health and In addition to this roadmap, the national plans and strategies

can take inspiration from the Rare 2030 recommendations

wellbeing. At community level, empowerment can improve

which sets out the need for a new European policy framework

social services and quality of health. Finally, at policy level,

empowerment is important to allow patients to contribute as for rare diseases to guide the implementation of national

a resource in development of sustainable healthcare systems. plans for rare diseases with the same measurable objectives.

This requires development of health policies that

acknowledges and focuses on patient empowerment, as well

as sustainable financial support systems for patient

organizations and education, employment and inclusion of

patient representatives in decision processes.

We need to recognize chronic patients as experts of their own

care by involving them as “co-managers” of their condition in

partnership with HCPs. By putting empowerment on the

agenda, health policies should guarantee education and

training of all stakeholders, patients, HCPs and institutions,

and thus contribute to a cultural change towards patient

empowerment on all levels.

Only with national strategies and cross-country cooperation -

supported by the necessary political and economic ambition

–

can we make lasting progress within rare diseases.

WE PROMISE EACH OTHER….

Today, we promise each other to continue to work together

across borders and expert fields to overcome the special

challenges of rare diseases. Due to the rarity and high

complexity, we need to recognize that rare diseases must be

treated different in order to secure the same progress as we

take for granted for people living with more common

diseases. In the Nordic countries, we have taken the first

steps, and will strive to pave the way for future international

collaboration to support the long-term vision of enabling

better lives for people living with rare disease.

6 The

EU Directive on Patients' Rights in Cross-Border Healthcare

requires the EU

Commission to support the development of ERNs throughout Member States.

The Rare 2030 “Recommendations:

The future of rare diseases starts today,

http://www.rare2030.eu/recommendations

Authors and endorsers of this Roadmap:

Authorship of the Nordic Roadmap lies with multiple stakeholders. The hosts and partners of the Nordic Rare Disease

Summit 2021 developed the foundation of the Nordic Roadmap, and contributions to the content derive from presentations and statements from speakers,

panelsts and participants at the Summit. As a result of the collaborative effort, no organization or individual should be made independently responsible for the

Nordic Roadmap. The Nordic Rare Disease Summit was hosted by Takeda in collaboration with Rare Diseases Denmark and the partners of the Summit were

EURORDIS, SBONN and LIF.