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FARA Energy Ball Research Panel

19th Sep 2014 Diseases, Friedreich's Ataxia

There were many excellent speakers at this year’s FARA Energy Ball that covered a wide variety of topics – from recent scientific breakthroughs to first-hand experiences of those suffering from the disease. Three leaders in the Friedreich’s ataxia research community spoke regarding current genetic approaches to therapies and shared some of their most recent findings.

One of the speakers was Joel Gottesfeld, Ph.D. Dr. Gottesfeld currently works as a professor in the Department of Molecular Biology at the Scripps Research Institute. He studies several genetic human diseases – one of which is Friedreich’s ataxia. In addition to studying general characteristics of this disease Dr. Gottesfeld and his staff are working to develop new treatments.

Their research has led to the discovery of a new group of histone deacetylase (HDAC) inhibitors. These small molecules were found to reverse the heterochromatin-mediated silencing of the frataxin (FXN) gene. Further research with mouse models has shown that these HDAC inhibitors can cross the blood brain barrier, do not appear to cause toxicity at expected therapeutic levels, and do act as HDAC inhibitors in the mouse brain. Even more promising, they demonstrated that the HDAC inhibitors increased the FXN gene expression and protein in the blood cells of FA patients.

Another speaker was Hélène Puccio, Ph.D. Dr. Puccio is the head of a research team at the Institute of Genetics and Molecular and Cellular Biology located at the University of Strasbourg, France, as well as a research director at the Insititute de Santé et de la Recherche Médicale (INSERM.) She has concentrated her research on the pathophysiological mechanisms involved in recessive ataxias, like Friedreich’s ataxia, in order to develop new animal and cell models.

During one of her studies she and her colleagues were able to use mice with no frataxin in their heart to demonstrate that gene therapy can be used to reverse heart damage and correct the mitochondrial metabolism. This finding leads to the possibility of using gene therapy as a treatment for the disease.

Finally, Massimo Pandolfo, MD works for Université Libre de Bruxelles at the Hôspital Erasme and has been the principal investigator of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS.) Dr. Pandolfo led an international collaboration that discovered the FA gene back in 1996 and has continued to contribute in many ways over the years. He has been working with everything from research trials to clinical care for patients. In addition, he has contributed to our understanding of the disease process, clinical characteristics, and has helped to advance drug development.

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FA Dyclonine Study Review

19th Sep 2014 Diseases, Friedreich's Ataxia

Freidreich’s ataxia (FA) is a recessive disease causing progressive damage to the nervous system. It is the most prevalent inherited cause of ataxia and affects about 1 in 50,000 people in the United States. Despite its prevalence, there is no cure or treatment beyond supportive care.

A recent article was published in the Human Molecular Genetics journal in regards to a potential new therapy for FA. The drug, dyclonine, was developed for use as a topical anesthetic and is found in the over the counter throat lozenge, Sucrets, as well as some Cepacol throat sprays. FA is caused by a genetic deficiency in the mitochondrial protein frataxin (FXN) and dyclonine was noticed to increase FXN protein in animal models. When the drug was given a mouse model of FA it prevented a performance decline during balance beam tests. A proof-of-concept clinical study was performed on eight patients, which showed an increase in buccal cell FXN.

Mice used in this study were tested with level balance beams of varying thickness that required them to walk from one end to the other in order to seek shelter. Mice were timed and video recorded in order to count the number of foot slips. The individual in charge of recording the data was blinded to which treatment group the mouse was in. Mice that were dosed with dyclonine had statistically significant improvements. Not only did their performance on the beams not worsen like the affected controls, but they even improved their time to cross.

The second part of the study involved using dyclonine as an oral rinse, since that is already FDA-approved, and then swabbing the cheeks for buccal cells. The cells were compared to pre-treatment cells from the same patients. Six of the eight showed an increase in FXN, two showed no increase, but two healthy controls showed increased levels. Interestingly, the patients with the most neurological impairment were the ones that showed the highest increase from the dyclonine mouth rinse. Neurological impairment was determined with a FARS (Friedreich’s Ataxia Rating Scale) score.

What’s next? Further clinical studies are required to see if the results achieved from the oral rinse can be duplicated systemically and show the same improvements as observed in the mouse model. Additionally, optimal dosing, toxicology, and pharmacokinetics all need to be studied and better understood before testing can proceed. Despite the questions that still need addressed, dyclonine could be a new treatment option for people affected by Friedreich’s ataxia.

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Enterovirus 68

19th Sep 2014 Diseases, Enterovirus 68

A rare respiratory illness has been all over the news recently, especially with the addition of two new states – Oklahoma and Pennsylvania. These states have recently been added to the growing group with confirmed cases of enterovirus 68. The other states include New York, Alabama, Indiana, Louisiana, Colorado, Illinois, Iowa, Kansas, Kentucky, and Missouri. Georgia, Michigan, Ohio, and Utah suspect that they have cases, but it has not been confirmed yet.

Enteroviruses are incredibly common, however enterovirus 68 is a rarer strain that can cause breathing problems in children. It was first isolated in California in 1962 and has generally turned up in sporadic, isolated instances. It usually surfaces later in the enterovirus season, which is equivalent to August-September in the Northern hemisphere. Outbreaks have become more common in the 21st century and have included countries like the Philippines, Japan, the Netherlands, and in multiple US states.

In general, children under 5 years of age are the most at risk, but the disease has been found in older children and adults with asthma as well as immunosuppressed adults. The disease causes typical respiratory illness symptoms.

There is no vaccine or treatment beyond supportive care, so it is recommended to use common sense and good hygiene for protection. Since the virus is spread through saliva, phlegm, and stool you should wash your hands regularly, cough or sneeze into your arm (not your hands) and avoid prolonged exposure with sick people. If you are ill try to avoid prolonged contact with immunocompromised individuals, very young children, and infants. The disease generally runs it course without any complications and very few people need to be hospitalized.

While enterovirus 68 has been a hot topic recently, it appears that the number of children with the illness has peaked toward the end of August. More states may be added to the list, but it should not be taken as a sign that the disease is suddenly spreading to new locations. Since only the CDC and a handful of other laboratories are able to test for this particular strain there is a backlog of samples.

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Dr. Robert Dean and the Friedreich’s Ataxia Research Alliance (FARA)

08th Jul 2014 Diseases, Friedreich's Ataxia

Dr. Robert Dean is actively involved with the Friedreich’s Ataxia Research Alliance (FARA) and working with them on ways to help find a cure. Friedreich’s Ataxia (FA) is a condition that causes damage to the nervous system. It will often start in childhood and worsen over time until it begins to impair movement. The disease impacts around 1 in every 50,000 people within the U.S. Unfortunately, the disease did not get very much attention, funding, or research until FARA was founded. The organization has led the awareness and research efforts since 1998 and continues to do so today.

What are the symptoms of Friedreich’s Ataxia?

The disease impacts people in different ways but generally speaking the symptoms will start to occur between the ages of five and fifteen. It typically starts by making it difficult for people to walk with the Ataxia spreading into the arms and core. Some patients will also lose their tendon reflexes and suffer from scoliosis. As time goes on patients may start to have their speech slur and develop hearing and vision loss, as well.

In addition to making large impacts on their ability to move, patients find it difficult to recover from common illnesses like colds and the flu. They become fatigues more easily and frequently suffer from chest pain, shortness of breath, and heart palpitations, common symptoms that result for accompanying heart disease.

Once the symptoms have started manifesting most patients only have ten to twenty years before they are confined to a wheelchair and eventually become incapacitated. This is incredibly devastating considering that most people start to suffer from Friedreich’s Ataxia when they are small children. By the time they are teenagers they could be permanently confined to a wheelchair.

How FARA Helps Patients

FARA was established in 1998 by a dedicated group of scientist and patient families that were determined to learn everything they could about the disease, what causes it and how to cure it. Their efforts have been successful in that millions of dollars have been poured into FA research and clinical trials throughout the world. With drugs in clinical trials, FARA continues to work on funding and creating public, private partnerships to further research and development.

Dr. Robert Dean and FARA

When Dr. Robert Dean became aware of Friedreich’s Ataxia, he was moved beyond measure. Witnessing small children suffer from an incurable genetic disease was something he could not stand by and watch. Listening to patients tell stories of heartbreak and learning to overcome their condition was inspirational and motivating. When children and young adults can be so confident in the face of a debilitating disease it brings what needs to be done into focus and Dr. Dean had to get involved. He has since been focused on bringing awareness to the disease, FARA, and the patients that are impacted by it. Through participation in various programs and fundraising activities, Dr. Robert Dean continues to push forward and partner with FARA to find a cure for those that need it most.

He invites you to join him in these efforts by learning more about FARA, volunteering, or donating so that those suffering from the disease can lead longer and fuller lives. To contact Dr. Dean, email contact@doctorrobertdean.com.

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