Angelika Klucken* , Heike Jaskolka , Patricia Wood , Naveed Ali

The international umbrella organization NBIA
Alliance and its mutual empowerment with the
EU-FP7-funded collaborative project TIRCON
1
Klucken* ,
1
Jaskolka ,
2
Wood ,
3
Ali ,
4
Lopez ,
5
Nagel ,
6
Scalise ,
6
Scalise ,
Angelika
Heike
Patricia
Naveed
Antonio
Alie
Fabrizia
Natale
5
7
8
9
10
Maayke Van Schijndel , Jean-Loup Vasseur , Florence Gauzy-Krieger, PhD , Susan Hayflick, MD , Thomas Klopstock, MD
1Hoffnungsbaum
2NBIA
3NBIA
4ENACH
5Stichting
e.V., Velbert, Germany;
Disorders Association, El Cajon, CA, USA;
UK, Berkshire, UK;
Asociación, Seville, Spain;
6
7
8
9
Ijzersterk, Beek en Donk, The Netherlands; AISNAF, Rossano, Italy; AIDNAI, Paris, France; Bavarian Research Alliance, Munich, Germany; Oregon Health & Science
University, Portland, OR, USA; 10The Ludwig Maximilian University of Munich, Munich, Germany
INTRODUCTION
•
NBIA RESEARCH AND LAY ADVOCACY – A HISTORY OF AN INTERRELATIONSHIP
NBIA DISORDERS
Neurodegeneration with Brain Iron Accumulation (NBIA) is a group of ultra-rare hereditary neurological
movement disorders characterized by high levels of iron in the basal ganglia and a progressive degeneration of
the nervous system. Currently, there is no cure or proven therapy for any of the NBIA forms
The international consortium TIRCON (Treat Iron-Related Childhood-Onset Neurodegeneration), funded by FP7
of the EU, is dedicated to the investigation of NBIA. 13 partners from 8 countries are conducting a clinical therapy
study, preclinical studies for novel therapies and the setup of an NBIA patient registry and biobank in order to
improve the infrastructure for NBIA research and care in Europe and the USA
The lay advocacies, NBIA Disorders Association (USA) and Hoffnungsbaum e.V. (Germany), are full partners in
TIRCON, AISNAF (Italy) associated as external partner. Based upon their experience in such collaborative projects,
the long-standing NBIA advocacies have been promoting the creation of further interconnected patient groups
The NBIA Alliance is the first informal international umbrella association for NBIA lay advocacies
Its main objectives are to increase awareness of NBIA in the health care community and the public, and to
support cooperative research into NBIA Disorders
The NBIA Alliance is an information platform and a first contact point for patients and clinicians where dedicated
structures are not yet in place. It plays an important role in translating scientific data into patient-friendly clinical
knowledge
We describe the launch, development, goals, activities, constraints and future options of the NBIA Alliance
We emphasize the mutual empowerment of the NBIA patients’ movement and the NBIA research and care
community in TIRCON
•
•
•
•
•
•
•
MUTUAL EMPOWERMENT OF TIRCON AND THE NBIA ALLIANCE
GOALS OF THE NBIA ALLIANCE
TIRCON‘S IMPACT ON THE NBIA ALLIANCE
ALLIANCE‘S IMPACT ON TIRCON
• NBIA patient representatives involved in the TIRCON consortium from the very beginning of the application process,
leading to a full partnership of HoBa and NBIADA in TIRCON and an integration of AISNAF as external partner
• Start of an informal international NBIA umbrella, the NBIA Alliance, as part of TIRCON dissemination at the TIRCON
Kick-off meeting in Munich in 2012
• NBIA Alliance patient day at the 2nd Joint International Symposium on NA and NBIA in Ede, Netherlands, in 2012
• Inspiration for new attendees in Munich and Ede to launch their own NBIA patient organizations in Spain, the
Netherlands and the UK and to expand the range of represented disorders to all NBIA variants by AIDNAI in France,
respectively
• Continuous support of NBIA Alliance meetings and dissemination activities by TIRCON, thus impelling the
development of the NBIA Federation
• Connection of NBIA Alliance partners to the network of NBIA experts in TIRCON, who share latest medical knowledge
with the Alliance, thus enhancing the advocacies’ dissemination about NBIA research and medical care to different
target groups
• Telemedicine support of TIRCON clinicians to NBIA patients world-wide, when a consultation with NBIA experts is
required, especially where NBIA expert centers are still missing
• TIRCON provides an infrastructure for collaborative research and medical care, thus providing hope to patient families
and their advocacies
Due to their networking capacities, the NBIA lay advocacies are playing an
active role in TIRCON, mainly in the field of dissemination and contributing
patients’ needs and views to the research project
• Support for TIRCON patient recruitment for the NBIA registry, biobank
and clinical study by identification of eligible patient families
• Helping identify further clinical and research centers, suitable for closer
connection to TIRCON, thus enlarging the NBIA expert community
• Enhancing TIRCON‘s outreach as multiplicators of TIRCON dissemination
activities
• Fundraising efforts for NBIA research projects and research-related
events, which help to advance the goals of TIRCON
• Awarding a research prize for early-career scientists performing
outstanding research on NBIA
• Engaging in a dialogue with stakeholders in the field of biomedical
research and public health care to raise awareness on NBIA
• Endorsing promising collaborative research projects after TIRCON
FIRST MEETING
NBIA ALLIANCE PARTNERS
Name of organization
Country
NBIA Disorders Association (NBIADA)
Association internationale de Dystrophie
Neuro Axonale Infantile (AIDNAI)
Hoffnungsbaum e.V. – Verein zur
Förderung der Erforschung und
Behandlung von NBIA (HoBa)
ENACH Associación – Asociacion Española
De Enfermos Con Neurodegeneracion Por
Acumulacion Cerebral De Hierro
Stichting Ijzersterk – Vereniging voor de
bevordering van onderzoek naar NBIA en
de ondersteuning van patiënten
NBIA UK
BEGINNING STEPS AND ACHIEVEMENTS
Networking TIRCON and other researchers to Spanish scientists.
fltr: B. Nafria, A. Darling, M. Serrano, B. Pérez (CIBERER / San Joan de Deu), M.
Kurian (UCL), S. Hayflick (TIRCON), A. López (NBIA Alliance / ENACH Associación)
RESOURCES THAT WE NEED
• Funding to employ professional staff because we need to complement the
volunteers’ work with additional manpower
• Management tools to achieve a clear organizational structure including internal
governance
• Improved tools to overcome language barriers because we need to reach out to
NBIA communities in different countries
• A strategy and action plan for long-term capacity building to strengthen our
competencies and skills
• A legal entity to act as an international recognized research-funding charity
Non-profitstatus
Contact
to NBIA
patients
Milestones
USA
1996
Yes
150
France
2000
Yes
9
• Extension to all NBIA Disorders
• Identifying patients in France
50
• 7 Family conferences
• 3 grants (co-) funded
• Focus on Networking
18
• Raising Awareness in Italy
• 6 grants awarded
• Support for 3 Symposia
36
• Promoting 2 proposals
• Cooperation with 16 hospitals
• 26 patients in a short time
Italy
Spain
2003
2006
2013
Yes
Yes
Yes
Netherlands
2014
Yes
8
• First successful fundraising
• Launch of a foundation
• Identifying patients in NL
UK
in process
in process
11
• Identifying patients in UK
NBIA ALLIANCE ONLINE
DEVELOPMENT
ACKNOWLEDGEMENT
= NBIA Alliance Partners
= TIRCON Consortium
= NBIA Alliance & TIRCON countries
2nd Symposium on NA & NBIA 2012: a step towards Stichting Ijzersterk (NL)
fltr: Antonio (Spain), Jean-Loup (France), William, Maayke, Alie, Rikkert (all
Netherlands), Patty (USA), Angelika (Germany)
CURRENT AGENDA
IMPLEMENTING OUR GOALS: POINTS OF DISCUSSION
• Defining the structure and long-term strategic agenda of the NBIA Alliance
• Raising awareness and increasing knowledge on all NBIA subtypes
• Expansion of the NBIA Alliance by reaching out to new NBIA groups in other
countries
• Networking and sharing information with emerging NBIA lay advocacies and
patient families world-wide, with clinicians and biomedical scientists, with
stakeholders in Health Care policy and the rare disease field
• Defining criteria that qualify hospitals as NBIA expert centers
• Updating and harmonizing verified disease information in lay advocacy and
other public health media in multiple languages
• Ongoing support for the development and implementation of “Best Practices
Guidelines on the Management and Care of PKAN patients”, jointly funded by
three NBIA Alliance partners in 2011
• Promoting the development of Best Practices Medical Guidelines on all NBIA
subtypes to improve patients’ quality of life
• Establishing group forums for therapists treating NBIA patients to discuss
therapy methods, resources, challenges and successes
• Advancing the NBIA Alliance site on RareConnect
• Planning for the First Joint international NBIA Family Conference supported
by all NBIA Alliance partners
• Increasing fundraising efforts for research grants
Development of a stragegic plan on actions to advance
• the NBIA Alliance itself:
 Creation of a legal entity to promote sustainability, public recognition and funding opportunities
 Establishment of an NBIA Alliance governance responsible for the setting and implementation of
strategic actions in the field of NBIA related biomedical research towards therapy development,
improved health care for our patients and advocacy in order to increase the NBIA Alliance’s impact
 Gaining financial support to enable the NBIA Alliance to employ a part-time assistant
• NBIA research and care:
 Promotion of collaboration of basic and clinical researchers in an NBIA Research Alliance
 Creation of an NBIA Alliance Scientific Advisory Board that is representative of all countries of the
Alliance and supports the goals of the NBIA Alliance
 Implementation of NBIA Alliance Research Grants
 Establishment of an annual NBIA Alliance Research Prize as an incentive for early-career scientists
 Supporting and enhancing an international clinical infrastructure for NBIA within the framework of
quality criteria for national „Centers of Expertise“ and „International Rare Disease European Reference
Networks“, recommended by the EUCERD
• NBIA ALLIANCE public outreach:
 Creation of an NBIA Alliance website and an online-newsletter to help spread our message
 Development of information packages based on the upcoming „Best practices guidelines“ for both
clinicians and NBIA families
Family Conference
2012 in Germany
Barcelona, Sept. 2013
• Representing all NBIA diseases as an internationally united group with one
voice, sharing a common vision and approach
• Defining common goals of the NBIA ALLIANCE
• Implementation of a Corporate Identity for the Alliance‘s dissemination
• International online accessibility in 5 languages by an NBIA Alliance site and
forum on the EURORDIS platform RareConnect as a virtual connector
• Creation of an NBIA Alliance information brochure
• Encouraging families in other countries to start non-profits in their country and
providing advice and experience during this process
• Participating in the EU-funded FP7 project TIRCON with some members of the
Alliance as full partners and others participating as external partners
• Working as a group to expand the pool of researchers studying NBIA
• First steps to create an international NBIA Alliance Scientific Advisory Board
with leaders in the NBIA research field.
Year of
foundation
• 7 Family conferences
• Funding over $1M in research
• Involved in 5 symposia
Germany
Associazione Italiana Sindromi
Neurodegenerative Da Accumulo Di Ferro
(AISNAF)
Launch of the NBIA Alliance during the TIRCON Kick-Off
meeting in January 2012 in Munich, Germany,
on the left: Patty (USA), Natale (Italy), Angelika (Germany),
on the right: Naveed (United Kingdom), Antonio (Spain),
Jean-Loup (France)
• To bring together all NBIA lay advocacy organizations around the world in a
united voice of collaboration for our common goals
• A strategic plan for the future which will be implemented by all partners
• Financial and organizational support for NBIA research, thus helping to
move the biomedical research towards more effective and, ultimately,
curative treatments
• Promoting improved health care with early diagnosis, effective therapies,
and an adequate psychosocial support with access for all those affected
• Helping NBIA families cope with these rare disorders and enabling them to
network on an international level
• Distributing harmonized, validated biomedical and social information on all
NBIA Disorders appropriately to different target groups
• Encouraging the growth of NBIA organizations in other countries and
striving to help newly developing groups by sharing knowledge and being a
resource to help them flourish and join the Alliance
• Networking and exchanging experiences with other organizations, research
institutions and industry that share the Alliance’s goals in the field of rare
diseases
• Identifying, encouraging and supporting new researchers interested in
studying NBIA disorders
CONCLUSIONS
• Startup and growth of the NBIA Alliance with the emergence of new NBIA patient groups, guided by the
long-standing NBIA lay advocacies and the TIRCON-consortium, has an impact on the implementation of
TIRCON projects and vice versa
• The NBIA Alliance and TIRCON are interconnected lay advocacy and scientific networks of outstanding
importance and with impact on NBIA patients, physicians and researchers worldwide
• The NBIA Alliance is an interface between different stakeholders in both the NBIA and Rare Disease
community (see adjacent graphics)
• The NBIA Alliance is a multiplicator of the rising knowledge of NBIA disorders
• The NBIA Alliance is a promoter of sustainable, collaborative NBIA research
• The NBIA Alliance is a supporter of the development of Best Practices guidelines for all NBIA Disorders that
will have an immediate impact on the medical care for NBIA individuals
• The NBIA Alliance faces funding constraints for its lay advocacy work and serious time constraints of its
volunteers, making growth more difficult
ACKNOWLEDGEMENT
REFERENCES
This work was funded by the European
Commission’s Seventh Framework Programme
(FP7/2007-2013, HEALTH-F2-2011, grant
agreement No. 277984, TIRCON).
EUCERD Recommendations on Rare Disease European
Reference Networks (RD ERNS), 31. 01. 2013
EUCERD Recommendations on Quality Criteria for Centres of
Expertise for Rare Diseases in Member States, 24. 10. 2011
NBIA UK
MAY 2014 by NBIA Alliance