-Current state of play of the study about histones deacetilases inhibitors HDAC

-Growth factor IGF-1. Study on animal models-Biochemical parameters in ataxias.

-Genic therapy.

-Cellular therapy.

-Gamma receptor agonist in Friedreich's ataxia.

-Clinical trials with: Idebenone, Riboflavine, EPO, IGF-1, Deferiprone, Pioglitazone, Lithium.


SUBJECTS: Neurologists, neuro-pediatricians, researchers and management members of European ataxia associations.

PARTICIPANTS: 80 persons.

CONFERENCE ORGANIZATION: Spanish ataxia federation. Euro-ATAXIA

DATE: 25th and 26th September 2009.

TIMETABLE: established in the program.

PLACE: Hotel Meliá Olid. Plaza San Miguel, nº 10. VALLADOLID, Spain.



SCIENTIFIC PROGRAM: 25th September 2009.

08,45-09,00 Data collection.




Isabel Campos. Deputy chairwoman of Fedaes.

“Presentation video of FEDAES”

Francesc Palau: Deputy chairman of Euroataxia.

“Director of CIBER of rare diseases, Valencia- National strategy on rare diseases”


09,30-13,30 Session I – General investigation on recessive ataxias

Coordinator: Dr. Francesc Palau


09.30-09.50 Dr. Massimo Pandolfo. (Hôpital Erasme-Université Libre de Bruxelles, Belgium) “Current state of histone deacetylase inhibitors investigation’’.

09.50-10,10 Dr. José Vicente Llorens Department of Genetics. University of Biology. University of Valencia.

“Drosophila and frataxin: effects of its reduction and overexpression”.

10.10-10.30 Dr. Daniele Marmolino. Laboratoire de Neurologie Expérimentale, Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium. “PPAR-gamma Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA.expression. New Implications for the Friedreich’s Ataxia Therapy”.

10.30-10.50 Dr. Ignacio Torres Alemán: Laboratory of Neuroendocrinology. (Institute Cajal. CSIC. Madrid)

" Response of Friedreich ataxia murine models to the IGF-1 "

10.50-11.10 Dr. Isaac Amela Abellán. Laboratory of Bioinformatics Institute of Biotechnology and Biomedicine (IBB) Universitat Autònoma de Barcelona “Friedreich Ataxia, computacional dynamic Model of the proteins that form the complex Iron - sulphur in Saccharomyces cerevisiae”


11.10-11.30h: Coffee break


11.30-11.50 Dr. Dr. Juan Antonio Navarro. Universität Regensburg. Germany.“Altered lipid metabolism in a Drosophila model of Friedreich Ataxia“

11.50-12.10 Dr. Javier Diaz Nido. Departament of Molecular Biology. Centre of Molecular Biology "Severo Ochoa" (CSIC-UAM). University Autonoma of Madrid.

”Knock-down of frataxin gene expression in human neuron-like cells as a cell model for Friedreich´s ataxia”.

12.10-12.30 Dr. Filip Lim. Faculty of sciences. Department of Molecular Biology Severo Ochoa. University Autónoma of Madrid. “Human neuronal cell models and gene therapy strategies for Friedreich´s ataxia”

12.30-12.50 Dr. Salvador Martínez Pérez. Institute of Neurosciences. University Miguel Hernández. Campus de San Joan. Alicante. “Cellular therapy on ataxia: Possibilities of application ”

Discussion on results facilitated by Dr. Francesc Palau


13.30-15.00 lunch.


15.10-17.00 Session II – General Investigation on dominant ataxias

Coordinator: Dr. Mercedes Pineda


15.10-15.30 Dr. David Genís. Servicio de neurología. General Hospital of Gerona. Spain. “Current state of the investigation on dominant ataxias”

15.30-15.50 Dr. Antoni Matilla Dueñas. Investigator in Neurosciences of the Spanish National Health System Coordinator of Basic Research in Ataxias and Neurodegenerative diseases. Neurosciences Department and Neurology Service Health Sciences Research Institute Germans Trias i Pujol (IGTP) Autonomous University of Barcelona. “Spinocerebellar ataxia type 1 (SCA1): molecular pathways, pathogenic mechanisms, and therapy.”

15.50-16.10 Dr. Luís Pereira de Almeida. Faculty of Pharmacy & Center for Neurosciences and Cell Biology University of Coimbra. Portugal “RNA interference on SCA-3”

16.10-16.30 Dr. Manuel Álvarez Dolado. Sevilla. "Cell Therapy in a Mouse Model Purkinje Cell Degeneration, or PCD "


Session III – Clinical Trials

Coordinator: Dr. Antoni Matilla


17.00-17.20 Dr. Francisco Javier Arpa. Department of Neurology. Hospital La Paz.- Madrid. “Clinical trials in adults with Deferiprone, idebenone, Riboflavin, IGF-1”

17.20-17.40 Dr. José Luis Muñoz. Servicio de Neurología. Hospital Gregorio Marañón. Madrid. “Clinical trials with GH and EPO”

17.40-18.00 Dr. Mercedes Pineda Marfá y Dr. Asunción Aracil. Neuropediatrics. Hospital San Joan de Deu. Barcelona. “Ataxia with Co Q deficiency in children”.


18.00-18.30 Coffee break


18.30-18.50 Dr. Rafael Artuch Iriberri. Hospital Sant Joan de Deu. Department of clinical biochemistry. “Friedreich ataxia’s patients Monitorship”

18.50-19.10 Dr. Giuseppe De Michele. Dipartimento di Scienze Neurologiche Università Federico II. Naples. Italy. “New therapeutic strategies for hereditary ataxias, in particular our results on erythropoietin”

19.10-19.30 Dr. Pierre Rustin Hopital Robert Debre, Paris. Francia. "Pioglitazone in FRDA: Why and How?

19.30-19.50 Dr. Benedicta Catalán. Hospital Universitario de Valladolid. “Results of the clinical trials with Fosfatil-B vitamin complex”

19.50-20.10 TAKEDA. “Results of the multicentric clinical trial with Idebenone”.WAITING FOR CONFIRMATION

Discussion on results facilitated by Dr. Antoni Matilla


21.30h: Dinner






ASSOCIATIONS PROGRAM: 26th September 2009.

10.00-13.00 Session IV. Interventions of patient’s associations

Coordinator: Dr. Sue Millman


-What activities could we develop to achieve European financing?

-Meeting of the steering committee of Euroataxia.




From 10.00 to 13.00 we will organize a touristic tour going round all the emblematic places of Valladolid. (It will be for the participants who haven’t to take part in Session IV)



The participants who have formalized their inscription, will be supplied with the conference documentation on Friday 25th September, 08.45h, where the conference will take place.

You can find more information about the program and the social work of FEDAES in:



See also: (ESP)

The legacy of Marie Schlau: literature to help cure Friedreich's Ataxia

If you feel like reading an unputdownable novel while collaborating with a just and solidary cause, "The Legacy of Marie Schlau" is your book! 100% of all funds raised will be dedicated to medical research to find a cure for Friedreich's Ataxia, a neurodegenerative disease that affects mostly young people, shortening their life expectancy and confining them to a wheelchair.

The life of Marie Schlau, a German Jewish girl born in 1833 hides great unsolved mysteries: accidents, disappearances, enigmas, unknown diagnoses, disturbing murders, love, tenderness, greed, lies, death ... alternatively a different story unfolds every time and takes us closer to the present. Thus, there are two parallel stories unravelling, each in a different age and place, which surprisingly converge in a revelatory chapter.

Paperback and Kindle versions for "The legacy of Marie Schlau" available for sale at Amazon now!


Research projects currently being financed by BabelFAmily

Currently, BabelFAmily is financing two promising research projects aimed at finding a cure for Friedreich's Ataxia. Whenever you make a donation to us or purchase a copy of "The legacy of Marie Schlau", this is where all funds raised will be devoted to:

1) Gene Therapy for Friedreich's Ataxia research project:

The project is the result of an initiative of Spanish people affected by this rare disease who are grouped in GENEFA in collaboration with the Spanish Federation of Ataxias and the BabelFAmily. The Friedreich’s Ataxia Research Alliance (FARA), one of the main patients’ associations in the United States now joins the endeavour.

2) Frataxin delivery research project:
The associations of patients and families Babel Family and the Asociación Granadina de la Ataxia de Friedreich (ASOGAF) channel 80,000 euros of their donations (50% from each organisation) into a new 18-month project at the Institute for Research in Biomedicine (IRB Barcelona). The project specifically aims to complete a step necessary in order to move towards a future frataxin replacement therapy for the brain, where the reduction of this protein causes the most damage in patients with Friedreich’s Ataxia.

The study is headed by Ernest Giralt, head of the Peptides and Proteins Lab, who has many years of experience and is a recognised expert in peptide chemistry and new systems of through which to delivery drugs to the brain, such as peptide shuttles—molecules that have the capacity to carry the drug across the barrier that surrounds and protects the brain. Since the lab started its relation with these patients’ associations in 2013*, it has been developing another two projects into Friedrich’s Ataxia.



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