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NNEEWWSS
EFACTS Coordinator:
Prof. Massimo Pandolfo
EFACTS Patient Registry:
Prof. Jörg B. Schulz
(Director Registry)
Kathrin Fedosov
(Patient contact)
Department of Neurology
RWTH Aachen University
Pauwelsstraße 30
52074 Aachen
� +49-241-80-88253
� +49-241-80-82582
www.e-facts.eu
October 2014 • Issue 4
Imprint: Prof. Dr. Jörg B. Schulz for
the EFACTS Consortium
(European Friedreich’s Ataxia
Consortium for Translational
Studies) Director, Dept. of
Neurology, RWTH Aachen
University, Pauwelsstraße 30,
52074 Aachen, Germany.
The information contained in this
newsletter is subject to the
EFACTS Liability Disclaimer which
can be found at
http://www.e-
facts.eu/html/liability
–Please consult a doctor for
medical advice.–
Except as otherwise noted this
work is licensed under the
Creative Commons Attribution-No
Derivative Works 3.0 Unported
License.
Subscribe here to EFACTS
NEWS:
Please go to the URL below
and fill out the online form:
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ewsletter/subscribe
Please send us your
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overall feedback:
Content Page
Status of the EFACTS patient registry ___________ 2
Findings and Publications 3
‘Switching’ the Frataxin gene back ‘on’ in Friedreich’s ataxia 8
The Future of the Registry 9
Meetings & Dates 9
WWeellccoommee ttoo tthhee 44tthh
iissssuuee ooff EEFFAACCTTSS NNEEWWSS
The EFACTS (European Friedreich’s Ataxia Consortium for Translational
Studies) Consortium is approaching the end of its last year of funding
within the European Commission’s 7th
framework program and is
publishing its fourth and last annual newsletter EFACTS NEWS.
In the past four years, we have provided updates on the activities of
the network and progress in European Friedreich’s Ataxia research to
affected families, health care professionals, the scientific community,
and the general public. All issues of EFACTS NEWS will continue to be
available on the EFACTS Website.
Any comments, suggestions, questions or overall feedback on EFACTS
NEWS and the EFACTS network are always welcome at contact@e-
facts.eu.
In this last issue of EFACTS NEWS, we would like to present another
update on the status of the EFACTS patient registry which has begun to
see patients at their third annual follow-up visits.
Since the recruitment of a “core sample” was completed in the spring
of 2013, baseline data analyses have been underway and baseline
results will be published shortly. Basic science projects have provided a
lot of new important knowledge and short summaries of findings of the
past year can be found in this newsletter.
Finally, we would like to report on the progress of the nicotinamide
trial, present results from the completed nicotinamide dose-escalation
trial, and give you an outlook on the future of the EFACTS consortium
and registry.
SSttaattuuss ooff tthhee EEFFAACCTTSS
PPaattiieenntt RReeggiissttrryy
Registry recruitment and follow-up visits are ongoing!
The 604 patients who were enrolled by 30th
April 2013 were considered the “core
sample” of EFACTS and baseline analyses of collected patient data were based on this
group of patients. Results from these analyses will be published shortly. However, the
Consortium expects that for future treatment trials, a large number of patients will need
to be identified to obtain conclusive results on the effectiveness of tested treatments.
Therefore, the registry remains open for new patients!
Enrolment and retention
In addition to the 604 patients of the “core sample”, who are the largest group of
Friedreich’s ataxia patients ever followed for a minimum of 2 years to collect natural
history data, the registry has accepted 37 new patients since spring 2013. 1-year follow-up assessments on 496 patients of the “core sample” were concluded in
May 2014 and analyses of collected data have begun. By mid-October 2014 341 “core
sample” patients had returned for their 2-year follow-up assessment and 47 patients for
their third annual follow-up assessment.
“Core sample” enrolment and retention by centre
London Milan Madrid Paris Innsbruck Munich Brussels Aachen Tübingen Bonn Marburg
BL 151 138 78 49 41 39 31 30 22 18 7
1YFU 120 130 48 42 34 34 29 19 21 14 5
2YFU 118 92 0 28 33 0 23 16 15 3 3
3YFU 11 0 0 0 16 0 12 8 0 0 0
0
20
40
60
80
100
120
140
160
No. of patients
Participant characteristics at baseline
Male (%)/ female (%) 299 (47)/ 342 (53)
Mean age in years at (range) 34 (6-76)
No. of children (<18 years) 63
THANK YOU FOR YOUR INVESTMENT IN THE REGISTRY,
HELPING US FIND A TREATMENT FOR FRIEDREICH’S ATAXIA!
2 October 2014 • Issue 4
Clinical Study Sites and Contacts
Austria
Prof. Sylvia Boesch
Belgium
Dr. Myriam Raï
France
Paris: Sandra Benaich
Strasbourg: Prof. Mathieu Anheim
Germany
Aachen: Kathrin Fedosov
Bonn: Ilaria Anna Giordano
bonn.de
Marburg: Prof. Katrin Bürk
München: Ivan Karin
Tübingen: Prof. Ludger Schöls
tuebingen.de
Italy
Dr. Caterina Mariotti
United Kingdom
Prof. Paola Giunti
Friedreich’s Ataxia patient
associations in Europe
euro-ATAXIA
www.euro-ataxia.eu
United Kingdom
Ataxia UK
www.ataxia.org.uk
Italy
GoFAR
www.fa-petition.org
France
Association Française de l’Ataxie de
Friedreich
www.afaf.asso.fr
Germany
Deutsche Heredo-Ataxie Gesellschaft
e.V.
www.ataxie.de
Spain
Federación de Ataxias de España
www.fedaes.org
Netherlands
Autosomal Dominant Cerebellar
Ataxia Vereniging Nederland
www.ataxie.nl
Ireland
Ataxia Ireland
www.ataxia.ie
Friedreich’s Ataxia Research
Groups
Ataxia Study Group
www.ataxia-study-group.net
Friedreich’s Ataxia Research Alliance
www.curefa.org
EEFFAACCTTSS NNEEWWSS
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EEFFAACCTTSS NNEEWWSS October 2014 • Issue 4 3
Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with
Friedreich's ataxia: an exploratory, open-label, dose-escalation study.
Libri V, Yandim C, Athanasopoulos S, Loyse N, Natisvili T, Law PP, Chan PK, Mohammad T, Mauri M, Tam KT, Leiper J, Piper S, Ramesh A,
Parkinson MH, Huson L, Giunti P, Festenstein R.
Lancet. 2014 Aug 9;384(9942):504-13. doi: 10.1016/S0140-6736(14)60382-2.
Friedreich's ataxia is a progressive degenerative disorder caused by deficiency of the frataxin protein. Expanded
GAA repeats within intron 1 of the frataxin (FXN) gene lead to its heterochromatinisation and transcriptional
silencing. Preclinical studies have shown that the histone deacetylase inhibitor nicotinamide (vitamin B3) can
remodel the pathological heterochromatin and upregulate expression of FXN. We aimed to assess the epigenetic
and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia. In this
exploratory, open-label, dose-escalation study in the UK, male and female patients (aged 18 years or older) with
Friedreich's ataxia were given single doses (phase 1) and repeated daily doses of 2-8 g oral nicotinamide for 5 days
(phase 2) and 8 weeks (phase 3). Doses were gradually escalated during phases 1 and 2, with individual maximum
tolerated doses used in phase 3. The primary outcome was the upregulation of frataxin expression. We also
assessed the safety and tolerability of nicotinamide, used chromatin immunoprecipitation to investigate changes
in chromatin structure at the FXN gene locus, and assessed the effect of nicotinamide treatment on clinical scales
for ataxia. This study is registered with ClinicalTrials.gov, number NCT01589809. Nicotinamide was generally well
tolerated; the main adverse event was nausea, which in most cases was mild, dose-related, and resolved
spontaneously or after dose reduction, use of antinausea drugs, or both. Phase 1 showed a dose-response relation
for proportional change in frataxin protein concentration from baseline to 8 h post-dose, which increased with
increasing dose (p=0.0004). Bayesian analysis predicted that 3.8 g would result in a 1.5-times increase and 7.5 g in
a doubling of frataxin protein concentration. Phases 2 and 3 showed that daily dosing at 3.5-6 g resulted in a
sustained and significant (p<0.0001) upregulation of frataxin expression, which was accompanied by a reduction in
heterochromatin modifications at the FXN locus. In the short period of time, clinical measures showed no
significant changes. Nicotinamide was associated with a sustained improvement in frataxin concentrations
towards those seen in asymptomatic carriers during 8 weeks of daily dosing. Further investigation of the long-
term clinical benefits of nicotinamide and its ability to ameliorate frataxin deficiency in Friedreich's ataxia is
warranted.
Model of the nicotinamide molecule, C6H6N2O
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Deferiprone in Friedreich's Ataxia: A six-month randomized controlled trial.
Pandolfo M, Arpa J, Delatycki MB, Sang KH, Mariotti C, Munnich A, Sanz-Gallego I, Tai G, Tarnopolsky MA, Taroni F, Spino M, Tricta F.
Ann Neurol. 2014 Aug 11. doi: 10.1002/ana.24248.
We conducted a 6-month randomized, double-blind, placebo-controlled study to assess safety, tolerability, and
efficacy of deferiprone in Friedreich's ataxia. Seventy-two patients were treated with deferiprone 20, 40, or 60
mg/kg/day or placebo, divided into two daily doses. Safety was the primary objective, secondary objectives
included standardized neurological assessments (FARS, ICARS, 9HPT, T25FW, LCLA), general functional status
(ADL), and cardiac assessments. Deferiprone was well tolerated at 20 mg/kg/day, whereas more adverse events
occurred in the 40 mg/kg/day than in the placebo group. The 60mg/kg/day dose was discontinued due to
worsening of ataxia in two patients. One patient on deferiprone 20 mg/kg/day experienced reversible
neutropenia, but none developed agranulocytosis. Deferiprone-treated patients receiving 20 or 40 mg/kg/day
showed a decline in the left ventricular mass index, compared to an increase in the placebo-treated patients.
Patients receiving 20 mg/kg/day of deferiprone had no significant change in FARS, similar to the placebo-treated
patients, while those receiving 40 mg/kg/day had worsening in FARS and ICARS scores. The lack of deterioration in
the placebo arm impaired the ability to detect any potential protective effect of deferiprone. However, subgroup
analyses in patients with less severe disease suggested a benefit of deferiprone 20 mg/kg/day on ICARS, FARS,
kinetic function and 9HPT. This study demonstrated an acceptable safety profile of deferiprone at 20 mg/kg/day
for the treatment of patients with FRDA. Subgroup analyses raise the possibility that, in patients with less severe
disease, deferiprone 20 mg/kg/day may reduce disease progression, while higher doses appear to worsen ataxia.
MutLα heterodimers modify the molecular phenotype of
Friedreich ataxia.
Ezzatizadeh V, Sandi C, Sandi M, Anjomani-Virmouni S, Al-Mahdawi S, Pook MA.
PLoS One. 2014 Jun 27;9(6):e100523. doi: 10.1371/journal.pone.0100523.
LAY ABSTRACT
Previous studies of FRDA cell and mouse models have revealed a role for
certain proteins that usually repair damaged DNA, called mismatch repair
proteins, in GAA repeat instability: MSH2, MSH3 and MSH6 promote GAA
repeat expansions, while PMS2 inhibits GAA repeat expansions. These
effects may play important roles in FRDA disease progression. By studying
FRDA mouse models, we have now investigated the potential role of
another mismatch repair protein, MLH1, in GAA repeat instability. We
find that MLH1 promotes GAA repeat expansions. However, we also find
that loss of MLH1 and PMS2 can also reduce frataxin expression levels.
Therefore, both PMS2 and MLH1 have now been shown to modify the
molecular phenotype of FRDA. We propose that upregulation of MLH1 or
PMS2 could be potential FRDA therapeutic approaches to increase
frataxin expression.
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Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse
model of Friedreich's ataxia.
Perdomini M, Belbellaa B, Monassier L, Reutenauer L, Messaddeq N, Cartier N, Crystal RG, Aubourg P, Puccio H.
Nat Med. 2014 May;20(5):542-7. doi: 10.1038/nm.3510.
Cardiac failure is the most common cause of mortality in Friedreich's ataxia (FRDA), a mitochondrial disease
characterized by neurodegeneration, hypertrophic cardiomyopathy and diabetes. FRDA is caused by reduced
levels of frataxin (FXN), an essential mitochondrial protein involved in the biosynthesis of iron-sulfur (Fe-S)
clusters. Impaired mitochondrial oxidative phosphorylation, bioenergetics imbalance, deficit of Fe-S cluster
enzymes and mitochondrial iron overload occur in the myocardium of individuals with FRDA. No treatment exists
as yet for FRDA cardiomyopathy. A conditional mouse model with complete frataxin deletion in cardiac and
skeletal muscle (Mck-Cre-Fxn(L3/L-) mice) recapitulates most features of FRDA cardiomyopathy, albeit with a
more rapid and severe course. Here we show that adeno-associated virus rh10 vector expressing human FXN
injected intravenously in these mice fully prevented the onset of cardiac disease. Moreover, later administration
of the frataxin-expressing vector, after the onset of heart failure, was able to completely reverse the
cardiomyopathy of these mice at the functional, cellular and molecular levels within a few days. Our results
demonstrate that cardiomyocytes with severe energy failure and ultrastructure disorganization can be rapidly
rescued and remodeled by gene therapy and establish the preclinical proof of concept for the potential of gene
therapy in treating FRDA cardiomyopathy.
hFXN protein expression assessed by immunofluorescence in heart from
35-week-old treated Mck mice using antibody to FXN.
5 October 2014 • Issue 4
October 2014 • Issue 4 EEFFAACCTTSS NNEEWWSS
FFiinnddiinnggss aanndd PPuubblliiccaattiioonnss
To read about all previous and new EFACTS publications, please continue to visit www.e-facts.eu
6
Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence
and abnormal calcium metabolism.
Bolinches-Amorós A, Mollá B, Pla-Martín D, Palau F, González-Cabo P.
Front Cell Neurosci. 2014 May 13;8:124. doi: 10.3389/fncel.2014.00124. eCollection 2014.
LAY ABSTRACT
Frataxin deficiency is the cause of Friedreich ataxia (FRDA), a neurodegenerative and systemic disorder that has the
dorsal root ganglia (DRG) as a major target neural tissue. In this manuscript we are addressing new knowledge on the
effect of frataxin depletion on mitochondria and cells, and how modifications in the mitochondrion may affect different
cellular processes. We have investigated the mitochondrial and cellular consequences of frataxin deficiency in a
neuron-like model based on FXN gene silencing in the human neuroblastoma cell line SH-SY5Y. Frataxin silencing
provoked slow cell growth associated with cellular senescence. Cellular senescence should be considered as a
contributing factor for the incomplete neurodevelopment as suggested by necropsy studies. In an attempt to
understand such cellular senescence and its relationship with the disease neuropathology, we focused not only on the
characterization of bioenergetics and redox status of the cell model but also on other mitochondrial functions that
have been associated with neurodegeneration that have not received enough attention in FRDA pathogenesis
(mitochondrial dynamics and calcium homeostasis). We show that the reduction of frataxin induces mitochondrial
dysfunction due to a bioenergetic deficit and reduced Ca2+ uptake capacity of the mitochondria that were associated
with both oxidative and endoplasmic reticulum (ER) stresses. The ER stress is a cellular response from conditions that
interfere with the correct function of the ER, such as changes of the Ca2+ homeostasis. In addition, the depletion of
frataxin does not cause cell death but increased autophagy, an intracellular degradation system, which may have a
protective effect against cellular insults such as oxidative stress. However, under conditions of prolonged stress signals,
ER stress induces apoptosis. We propose that the manipulation of mitochondrial Ca2+ homeostasis, ER stress, and
cellular senescence should be explored as a potential therapeutic strategy for the treatment of FRDA patients. Quantification of the mitochondrial dynamic process in SH-SY5Y (human neuroblastoma cells). The
representative mitochondrial network shows increased fusion morphology in frataxin-deficient cells. © 2014 Bolinches-Amorós, Mollá, Pla-Martín, Palau and González-Cabo.
7EEFFAACCTTSS NNEEWWSS October 2014 • Issue 4
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For a more comprehensive understanding of Friedreich’s ataxia, past research findings and opinions on needed future
research studies please also see these review articles, which have been published by EFACTS investigators in the past year:
Epigenetic-based therapies for Friedreich ataxia. Sandi C, Sandi M, Anjomani Virmouni S, Al-Mahdawi S, Pook MA.
Front Genet. 2014 Jun 3;5:165. doi: 10.3389/fgene.2014.00165. eCollection 2014.
Friedreich ataxia (FRDA) is a lethal autosomal recessive neurodegenerative disorder caused primarily by a homozygous GAA
repeat expansion mutation within the first intron of the FXN gene, leading to inhibition of FXN transcription and thus reduced
frataxin protein expression. Recent studies have shown that epigenetic marks, comprising chemical modifications of DNA and
histones, are associated with FXN gene silencing. Such epigenetic marks can be reversed, making them suitable targets for
epigenetic-based therapy. Furthermore, since FRDA is caused by insufficient, but functional, frataxin protein, epigenetic-based
transcriptional re-activation of the FXN gene is an attractive therapeutic option. In this review we summarize our current
understanding of the epigenetic basis of FXN gene silencing and we discuss current epigenetic-based FRDA therapeutic
strategies.
Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster
deficit to mitochondrial iron accumulation. Martelli A, Puccio H.
Front Pharmacol. 2014 Jun 3;5:130. doi: 10.3389/fphar.2014.00130. eCollection 2014.
Friedreich ataxia (FRDA) is the most common recessive ataxia in the Caucasian population and is characterized by a mixed
spinocerebellar and sensory ataxia frequently associating cardiomyopathy. The disease results from decreased expression of the
FXN gene coding for the mitochondrial protein frataxin. Early histological and biochemical study of the pathophysiology in
patients’ samples revealed that dysregulation of iron metabolism is a key feature of the disease, mainly characterized by
mitochondrial iron accumulation and by decreased activity of iron-sulfur cluster enzymes. In the recent past years, considerable
progress in understanding the function of frataxin has been provided through cellular and biochemical approaches, pointing to
the primary role of frataxin in iron-sulfur cluster biogenesis. However, why and how the impact of frataxin deficiency on this
essential biosynthetic pathway leads to mitochondrial iron accumulation is still poorly understood. Herein, we review data on
both the primary function of frataxin and the nature of the iron metabolism dysregulation in FRDA. To date, the
pathophysiological implication of the mitochondrial iron overload in FRDA remains to be clarified.
Chronochemistry in neurodegeneration. Pastore A, Adinolfi S.
Front Mol Neurosci. 2014 Mar 31;7:20. doi: 10.3389/fnmol.2014.00020. eCollection 2014.
The problem of distinguishing causes from effects is not a trivial one, as illustrated by the science fiction writer Isaac Asimov in a
novel dedicated to an imaginary compound with surprising "chronochemistry" properties. The problem is particularly important
when trying to establish the etiology of diseases. Here, we discuss how the problem reflects on our understanding of disease
using two specific examples: Alzheimer's disease (AD) and Friedreich's ataxia (FRDA). We show how the fibrillar aggregates
observed in AD were first denied any interest, then to assume a central focus, and to finally recess to be considered the dead-
end point of the aggregation pathway. This current view is that the soluble aggregates formed along the aggregation pathway
rather than the mature amyloid fiber are the causes of disease. Similarly, we illustrate how the identification of causes and
effects have been important in the study of FRDA. This disease has alternatively been considered as the consequence of
oxidative stress, iron precipitation or reduction of iron-sulfur cluster protein context. We illustrate how new tools have recently
been established which allow us to follow the development of the disease. We hope that this review may inspire similar studies
in other scientific disciplines.
EEFFAACCTTSS NNEEWWSS October 2014 • Issue 4 8
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Epigenetic therapy for Friedreich's ataxia. Soragni E, Miao W, Iudicello M, Jacoby D, Demercanti S, Clerico M, Longo F, Piga A, Ku S, Campau E, Du J, Penalver P, Rai M, Madara JC,
Nazor K, O'Connor M, Maximov A, Loring JF, Pandolfo M, Durelli L, Gottesfeld JM, Rusche JR.
Ann Neurol. 2014 Aug 27. doi: 10.1002/ana.24260. [Epub ahead of print]
Objective: To investigate whether a histone deacetylase inhibitor (HDACi) would be effective in an in vitro model for the
neurodegenerative disease Friedreich's ataxia (FRDA) and to evaluate safety and surrogate markers of efficacy in a phase I
clinical trial in patients. Methods: We used a human FRDA neuronal cell model, derived from patient induced pluripotent
stem cells, to determine the efficacy of a 2-aminobenzamide HDACi (109) as a modulator of FXN gene expression and
chromatin histone modifications. FRDA patients were dosed in four cohorts, ranging from 30 mg/day to 240 mg/day of the
formulated drug product of HDACi 109, RG2833. Patients were monitored for adverse effects as well as for increases in FXN
mRNA, frataxin protein, and chromatin modification in blood cells. Results: In the neuronal cell model, HDACi 109/RG2833
increases FXN mRNA levels and frataxin protein, with concomitant changes in the epigenetic state of the gene. Chromatin
signatures indicate that histone H3 lysine 9 is a key residue for gene silencing through methylation and reactivation through
acetylation, mediated by the HDACi. Drug treatment in FRDA patients demonstrated increases in FXN mRNA and H3 lysine 9
acetylation in peripheral blood mononuclear cells. No safety issues were encountered. Interpretation: Drug exposure
inducing epigenetic changes in neurons in vitro is comparable to the exposure required in patients to see epigenetic changes
in circulating lymphoid cells and increases in gene expression. These findings provide a proof of concept for the development
of an epigenetic therapy for this fatal neurological disease. © 2014 American Neurological Association.
‘‘SSwwiittcchhiinngg’’ tthhee FFrraattaaxxiinn ggeennee bbaacckk ‘‘oonn’’ iinn FFrriieeddrreeiicchh’’ss aattaaxxiiaa
PPrrooff.. RRiicchhaarrdd FFeesstteennsstteeiinn,, IImmppeerriiaall CCoolllleeggee,, LLoonnddoonn,, UUKK
The Festenstein lab previously demonstrated that GAA-triplet repeats can induce gene silencing in a manner previously
described for the epigenetic phenomenon of position effect variegation (PEV) (Saveliev et al., 2003) which has been
instrumental in the development of the notion of a histone or epigenetic code (Jenuwein and Allis, 2001). This implicated
chromatin modifiers as disease modifiers in Friedreich's ataxia (Chan et al., 2013). In the last newsletter it was reported that
an exploratory clinical study was underway to determine whether the histone deacetylase inhibitor, nicotinamide, could
upregulate the frataxin gene in patients with Friedreich's ataxia. This study revealed upregulation of frataxin in patients using
large doses of nicotinamide which were generally well tolerated (Libri et al., 2014). The results support further investigation
of the safety and clinical efficacy in a larger randomised controlled clinical trial which is being planned. If frataxin can be
safely upregulated in a sustained manner it would be predicted that the treatment may prevent further decline in this
otherwise relentlessly progressive condition. Friedreich's ataxia could be viewed as a prototypic position-effect disease
making it possible that other diseases caused by a similar mechanism would be amenable to similar approach.
References:
Chan, P.K., Torres, R., Yandim, C., Law, P.P., Khadayate, S., Mauri, M., Grosan, C., Chapman-Rothe, N., Giunti, P., Pook, M., et al. (2013).
Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3. Hum
Mol Genet 22, 2662-2675.
Jenuwein, T., and Allis, C.D. (2001). Translating the histone code. Science 293, 1074-1080.
Libri, V., Yandim, C., Athanasopoulos, S., Loyse, N., Natisvili, T., Law, P.P., Chan, P.K., Mohammad, T., Mauri, M., Tam, K.T., et al. (2014).
Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-
escalation study. Lancet. 2014 Aug 9;384(9942):504-13.
Saveliev, A., Everett, C., Sharpe, T., Webster, Z., and Festenstein, R. (2003). DNA triplet repeats mediate heterochromatin-protein-1-sensitive
variegated gene silencing. Nature 422, 909-913.
EEFFAACCTTSS NNEEWWSS October 2014 • Issue 4 9
MMeeeettiinnggss && DDaatteess
Neuroscience 2014
15th
- 19th
November 2014
Washington, DC, USA
International Ataxia Research Conference
25th
– 28th
March 2015
Beaumont Estate, Windsor, UK
International Conference on Rare Diseases and
Orphan Drugs
12th – 17th October 2015
Mexico City, Mexico
28th February 2015:
Rare Disease Day
25th September 2015:
International Ataxia Awareness Day
Attendants of the 4th
annual meeting of the EFACTS
consortium, 27th
– 28th
June 2014,
Centro de Investigación Príncipe Felipe, Valencia, Spain
Photo courtesy of Dr. Michael H. Parkinson ([email protected]).
TThhee FFuuttuurree ooff tthhee RReeggiissttrryy PPrrooff.. JJöörrgg BB.. SScchhuullzz,, UUnniivveerrssiittyy HHoossppiittaall RRWWTTHH AAaacchheenn,, GGeerrmmaannyy
Funding of the EFACTS registry by the European Commission will come to an end by April 2015. By
then, we will have a complete 2 year follow-up of all patients which were retained in the database
and a 3rd year investigation by more than 50% of the patients. We have just applied for new funding
through the European Commission’s framework program Horizon 2020. If successful, this funding
will financially secure the patient registry and yearly follow-up investigations for four years. We
consider this to be of importance for successfully planning, designing, and running future clinical
interventional trials, testing e.g. gene therapeutic approaches, HDAC inhibitors or other approaches
for their safety and effectiveness. A decision on our grant application will not be available before
summer or fall 2015. The registry will therefore need to be run without funding starting in May 2015.
Meanwhile, we would welcome short-term financial support from patient associations and the
industry and we would like to strongly encourage patients and investigators to continue yearly
follow-up assessments (without financial compensation until additional funding is secured), thereby
keeping the registry and its value alive.
