By Gian Piero Sommaruga

October 21 2013 - This evening I finally had the opportunity to speak with Dr. Testi. Unfortunately, there is no news yet regarding the results from the Interferon gamma USA trial on children. He just confirmed that the results they got so far in vitro and animals are encouraging.
In two years time at the most they should be able to understand if interferon gamma really works for FA, after some clinical trials. Importantly, he also told me that the trial in Rome on adult FA patients has started. They have already recruited the ten people who will be part of this Italian pilot trial, which will last approximately 5/6 weeks. Each patient will be given a total of three shots of interferon gamma, one single shot every two weeks, in an ascending dosage of 100, 150 and 200 micrograms. During these 6 weeks they will check if there is an increase in frataxin levels. The study that is being conducted in US in children is somehow different since there will be no ascending dosage but shots of 100 micrograms three times/week for three months. They will check whether frataxin is increased but also look for any neurological improvement. In this study the number of participants will be of 12 children.   I told him that some people have contacted me saying that they want to start this treatment. He commented that  - if they manage to get the drug – which is extremely expensive and obviously not yet covered for FA by the health care system - they can try this therapy but should be strictly followed by a doctor or a neurologist. This doctor/neurologist would also be welcome to keep in contact with Dr. Testi or contact him for any enquiry. The more data they get from people using this drug, the best. What is really important before starting this therapy with interferon gamma is checking first if  the patient is responsive to it. It seems that  a small fraction of FA patients do not respond to interferon gamma, i.e. they have no increase in frataxin levels. This means that, as Gunnhild did, a blood test to check the response to interferon gamma is recommended before starting with it. Also, there might be different side effects, since every person is different, but generally interferon gamma is well tolerated and side effects can be easily managed with an antipyretic drug. Interferon gamma is being used by patients with other health issues - different from FA –mostly children, who are supposed to take it all their life long.

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!

https://www.amazon.com/Legacy-Marie-Schlau-collective-Friedreichs-ebook/dp/B01N28AFWZ

 

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:

https://www.irbbarcelona.org/en/news/international-patient-advocates-partner-to-fund-spanish-gene-therapy-project-to-treat

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:

https://www.irbbarcelona.org/en/news/new-research-front-to-tackle-friedreichs-ataxia
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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