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FARAFARA Cure FA

 

Scientific News

FARA funds research progress

In this section, you will find the most recent FA research publications, many of which are funded by FARA, as well as information on upcoming conferences and symposiums. You can search for articles by date using the archive box in the right hand column. To locate FARA Funded or Supported Research, click the hyperlink in the right hand column. You may also search for specific content using key words or phrases in the search button at the top right of your screen. Please be sure to visit other key research sections of our website for information on FARA’s Grant Program and the Treatment Pipeline.

 


 

CRISPR Therapeutics Awarded Grant from FARA to Collaborate with University of Alabama at Birmingham on Gene-edited Treatments for Friedreich’s Ataxia

ZUG, Switzerland and CAMBRIDGE, Mass., Oct. 13, 2017 (GLOBE NEWSWIRE) -- CRISPR Therapeutics (NASDAQ:CRSP), a genome editing company focused on creating transformative medicine for serious diseases, today announced the receipt of the Kyle Bryant Translational Research Award from Friedreich’s Ataxia Research Alliance (FARA), a non-profit organization that is focused on curing Friedreich’s Ataxia (FA). The grant is awarded to fund research on in vivo CRISPR/Cas9-based gene-editing approaches to treat FA, which will be performed in collaboration with Dr. Marek Napierala at University of Alabama at Birmingham. This announcement coincides with FARA’s rideATAXIA Philadelphia event, a lead location in an annual bike ride program founded by patient Kyle Bryant, that increases FA awareness and raises funds to treat and cure FA through research.

Read the full Press Release HERE

IARC 2017 Follow Up

The FARA Team returned from the four-day International Ataxia Research Conference (IARC) in Pisa, Italy a bit jet-lagged but buzzing with energy that results from the sharing of good research results. IARC2017 was co-organized by goFAR, Ataxia UK and FARA and simply by the numbers included:

  • over 400 attendees- researchers, clinicians, patients, and government, regulatory, and industry representatives.
  • Representatives from 22 countries
  • >15 pharma/ biotech companies
  • >30 platform presentations on FA
  • Over 95 poster presentations on FA!!!

In addition to the impressive engagement numbers, the IARC had many meaningful research and collaboration take-aways such as:

Young Investigators
The IARC2017 welcomed an increasing number of young investigators, demonstrating growing interest in research for the ataxias. The host organizations believe in developing and mentoring the next generation of researchers and were honored to give nine scholarships to graduate students and post-doctoral fellows who submitted competitive abstracts. In order to help these young investigators make contacts in the field and develop their careers in ataxia research, FARA provided a lunch at the start of the meeting to help young investigators meet more senior investigators and learn about options for career development within the field. In addition, among more than 50 competitive Young Investigator Posters, Nesli Ece Sen and Saba Saqlain earned honors for best Young Investigator Posters for their work in ataxia and Friedreich’s ataxia respectively.

International Collaboration
Ataxia is not just a US or a European disease. It is a global disease, requiring international collaboration on all fronts. These collaborations are the power behind research advancement and treatments for FA. The research advocacy organizations held a meeting at IARC2017 and discussed the importance of the FA Global Patient Registry as an essential resource for both clinical trial readiness and advancing research. The partner organizations committed to further collaboration in expanding and growing the patient registry. https://curefa.net/registry/

Exercise is Good
Several researchers presented data on the benefits of exercise for people living with FA. Dr. Zen Yan from University of Virginia presented data in mice showing that long term aerobic exercise is seen to slow FA onset (Click here for more information) Dr. Sarah Milne from Monash University in Australia also presented a poster demonstrating that physical rehabilitation improved physical and emotional health. There were also several other poster and platform presentations drawing attention to the need to treat symptoms of visual dysfunction, hearing loss, speech and swallowing and depression.

Patient & Clinical Trial Design Roundtables
Individuals with ataxia and parents and caregivers joined the meeting for a special patient roundtable discussion to share their personal stories and need for treatment. This roundtable made clear statements about the need to not only focus on stopping and curing the disease, but also asserted that treatments which target symptoms are meaningful. If therapies could improve symptoms such as vision and hearing loss or speech impairment, this would be significant for people living with ataxia. (Click here for more information) There was also informative roundtable on clinical trial design for ataxias that featured representation from the European Medical Association, ataxia patient community, clinical neurologists and pharmaceutical companies. This allowed for important discussion among all stakeholders on good clinical trial design. Some themes that arose from this discussion included the need for better communication between study sponsors and study participants and the need for objective outcome measures.

Advancing Therapies
The conference included more than 20 platform and poster presentations focused on drug discovery, preclinical and clinical outcomes in FA. These presentations demonstrated progress in many aspects of the treatment pipeline. Encouraging results of recent clinical trials were reported including Reata's Phase 2 MOXIe study, as well as a number of talks on new therapeutic options that may reach the clinic soon. There has been significant growth and advancement in drug discovery and development for therapies that target frataxin (ie the root cause of FA). This was most notable in the number of presentations on genetic based therapies including oligonucleotide and gene replacement strategies. To read more about some of the research presented at the conference, click one of the links below:

Thank you to all who made IARC2017 a success- the host organization- goFAR, steering committee, presenters, and participants. You’ve shown once again that Together We Will Cure FA!
 

The Subclinical Cardiomyopathy of Friedreich's Ataxia in a Pediatric Population

Identification of a subclinical cardiomyopathy in a pediatric patients with Friedreich's ataxia (FA) has not been well-described. This group therefore performed echocardiography (echo), cardiac magnetic resonance imaging (cMRI) and neurologic assessment in a cross-sectional analysis of 48 genetically-confirmed FA subjects aged 9-17 years with moderate neurologic impairment but without a cardiovascular history. They found that echo showed that left ventricle measurements exceeded age-based normal values in 85% of subjects and cMRI-determined that these measurements correlated with depression of both diastolic and systolic tissue Doppler velocity as well as increased early diastolic Doppler flow velocity/tissue velocity ratio, a marker of elevated left ventricle filling pressure. Similar associations were found with echo left ventricle mass. Depressed left ventricle relaxation and increased left ventricle stiffness were observed in 88% and 71% of subjects despite a normal left ventricle ejection fraction in almost all cases. concentric remodeling and concentric hypertrophy were present in 40% and 44% of the study group. The group concludes that a subclinical hypertrophic cardiomyopathy is common in pediatric FA patients and cardiac hypertrophy is associated with both diastolic and systolic dysfunction.

Read the entire article HERE

FDA awards six grants for natural history studies in rare diseases

The U.S. Food and Drug Administration today announced it has awarded six new research grants for natural history studies in rare diseases. The aim of the research is to inform medical product development by better understanding how specific rare diseases progress over time. One potential application of these studies is the opportunity to eventually use natural history models to augment the need for placebo arms in studies of drugs that target very rare disease, where trial recruitment can be challenging.

This is the first time the FDA is providing funding through its Orphan Products Grants Program to conduct rare disease natural history studies. The FDA is providing a total of $6.3 million over the next five years to fund four natural history studies. In addition, through a partnership with the National Institutes of Health’s (NIH) National Center for Advancing Translational Sciences (NCATS), the FDA received $3.5 million to be combined with FDA funding to fund an additional two studies. NCATS’ support was made possible through its Therapeutics for Rare and Neglected Diseases (TRND) program.

Read the entire article HERE

Frataxin-deficient neurons and mice models of Friedreich ataxia are improved by TAT-MTScs-FXN treatment

Friedreich ataxia (FA) is a rare disease caused by deficiency of frataxin, a mitochondrial protein. As there is no cure available for this disease, many strategies have been developed to reduce the deleterious effects of such deficiency. One of these approaches is based on delivering frataxin to the tissues by coupling the protein to trans-activator of transcription (TAT) peptides, which enables cell membranes crossing. In this study, we tested the efficiency of TAT-MTScs-FXN fusion protein to decrease neurodegeneration markers on frataxin-depleted neurons obtained from dorsal root ganglia (DRG), one of the most affected tissues. In mice models of the disease, we tested the ability of TAT-MTScs-FXN to penetrate the mitochondria and its effect on lifespan. In DRG neurons, treatment with TAT-MTScs-FXN increased cell survival, decreased neurite degeneration and reduced apoptotic markers, such as α-fodrin cleavage and caspase 9 activation. Also, we show that heat-shock protein 60 (HSP60), a molecular chaperone targeted to mitochondria, suffered an impaired processing in frataxin-deficient neurons that was relieved by TAT-MTScs-FXN addition. In mice models of the disease, administration of TAT-MTScs-FXN was able to reach muscle mitochondria, restore the activity of the succinate dehydrogenase and produce a significant lifespan increase. These results support the use of TAT-MTScs-FXN as a treatment for Friedreich ataxia.

Read the entire article HERE

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