ICAR 2022 – Register now to avoid the late fee
The International Congress for Ataxia Research (ICAR) will be held on November 1-4, 2022, at Renaissance Dallas Addison Hotel in Dallas, Texas, USA. 

Register HERE before October 1st, 2022 to avoid the late fee. 

A preliminary program with invited speakers is now available here.

ICAR will also feature several mentorship and social events for junior investigators organized by the Trainee Organizing Committee. All young investigators are welcome, including current students, postdocs, and clinical trainees. You can view these events and how to participate in the Flash Talk Competition here.
Pharma News
Larimar Therapeutics Provides Updates on CTI-1601 Clinical Program Following a Type C Meeting with the U.S. Food and Drug Administration and Reports Second Quarter 2022 Operating and Financial Results 
Larimar Therapeutics, Inc. announced that it has received meeting minutes from the U.S. FDA following a recent Type C Meeting with the Agency. The purpose of the Type C Meeting was to obtain FDA feedback on the information needed to resolve CTI-1601's current clinical hold in full or in part, as well as to discuss a proposed change in CTI-1601’s clinical development plan to introduce a Phase 2 dose exploration study to precede initiation of an open label extension study. This study will provide data on extended dosing of lower doses of CTI-1601, including additional data on safety and tolerability as well as whether lower doses for longer periods of time can increase frataxin levels while maintaining acceptable exposures. To read the full press release, click here.
Recent FARA Funded FA Publications  
Frataxin controls ketone body metabolism through regulation of OXCT1.
Dong YN, Mesaros C, Xu P, Mercado-Ayón E, Halawani S, Ngaba LV, Warren N, Sleiman P, Rodden LN, Schadt KA, Blair IA, Lynch DR. 

This study shows that frataxin controls ketone body metabolism through regulation of 3-Oxoacid CoA-Transferase 1 (OXCT1), a rate limiting enzyme catalyzing the conversion of ketone bodies to acetoacetyl-CoA that is then fed into the Krebs cycle. Biochemical studies show a physical interaction between frataxin and OXCT1 both in vivo and in vitro. This regulation is mediated by frataxin-dependent suppression of ubiquitin-proteasome system (UPS)-dependent OXCT1 degradation.
Recent FA Publications 
Direct utility of natural history data in analysis of clinical trials: Propensity match-based analysis of Omaveloxolone in Friedreich ataxia using the FA-COMS dataset 
Lynch DR, Goldsberry A, Rummey C, Farmer J, Boesch S, Delatycki MB, Giunti P, Hoyle JD, Mariotti M, Mathews KD, Nachbauer W, Perlman S, Subramony SH, Wilmot G, Zesiewicz T, Weissfeld L, Meyer C 
 
This study performed a propensity-matched comparison of the data from the open-label MOXIe Extension (omaveloxolone) with that from the Friedreich Ataxia Clinical Outcome Measures Study (FA-COMS). Data from the MOXIe Extension show that omaveloxolone provides persistent benefit over three years when compared to an untreated, rigorously matched cohort from FA-COMS. This study details how propensity-matched analysis contributes to the understanding of the effects of therapeutic agents and demonstrates the direct value of natural history studies in the evaluation of clinical trials. 
 
This article is on a preprint service and has not been peer-reviewed. 

An open-label pilot study of recombinant granulocyte-colony stimulating factor in Friedreich's ataxia. 
Kemp KC, Georgievskaya A, Hares K, Redondo J, Bailey S, Rice CM, Scolding NJ, Metcalfe C, Wilkins A. 

This paper describes an open-label, pilot study of recombinant human granulocyte-colony stimulating factor (G-CSF) administration in seven people with FA (EudraCT: 2017-003084-34); each participant receiving a single course of G-CSF (Lenograstim; 1.28 million units per kg per day for 5 days). The authors show that administration of G-CSF to people with FA is safe. Sustained increases in cellular frataxin concentrations and raised PGC-1α and Nrf2 expression are detected.  

Replication dependent and independent mechanisms of GAA repeat instability. 
Masnovo C, Lobo AF, Mirkin SM. 

Here, the authors provide a brief historical overview on the discovery of (GAA)n repeat expansions and their association to FRDA, followed by recent advances in the identification of triplex H-DNA formation and replication fork stalling. The main body of this review focuses on the last decade of progress in understanding the mechanism of (GAA)n repeat instability during DNA replication and/or DNA repair.  

A systematic review of disease prevalence, health-related quality of life, and economic outcomes associated with Friedreich's Ataxia.  
Buesch K, Zhang R. 

The objective of this study is to systematically review the literature regarding the aspects of prevalence, health-related quality of life (HRQoL), and economic outcomes that are associated with FA, and to subsequently identify relevant knowledge gaps.  

Perspectives on current models of Friedreich's ataxia. 
Kelekçi S, Yıldız AB, Sevinç K, Çimen DU, Önder T. 

In this perspective article, the authors highlight studies conducted using FRDA animal models, patient-derived materials, and particularly induced pluripotent stem cell (iPSC)-derived models. Current challenges in using FRDA animal models and patient-derived cells are discussed.  
FARA Newly Awarded Research Grants  
General Research grant 
Louise Corben, PhD (Murdoch Children’s Research Institute) 
Measuring ataxia in children with Friedreich ataxia 
 
 
Postdoctoral Fellowship 
Sarah Robinson-Thiewes, PhD (St. Jude Children’s Research Hospital) 
Illuminating how SynGRs liberate gene expression from heterochromatin 
 
Changfan Lin, PhD (Caltech) 
Engineering adeno-associated viral vectors to evade immune responses
FARA Forum Webinars
The FARA Forum is a monthly webinar featuring investigators who have been awarded FARA grants. The webinar is open to FARA grant awardees and it is held on the second Tuesday of every month. Here are the next dates: 
 
September 13, 2022 – 12:00PM ET 
Erin Seifert, Thomas Jefferson University 
 
October 11, 2022 – 12:00PM ET 
Damon Feng, Watts lab, UMass medical school 
Grant Opportunities
FARA research grants: KMA Cardiac Award, KB Translational Research Award and BJK International Research Collaboration Award – LOI deadline is January 15, 2023; Award for Innovative Mindset – application deadline is February 1, 2023; General Research Grants – next LOI deadline is February 15, 2023. See FARA grant program priorities HERE.
 
Various grant opportunities on ataxia research are available from the National Ataxia Foundation (NAF). See grant types and deadlines HERE.
 
NIH funding opportunities, R03, Small Grant Program: The purpose of this funding opportunity announcement is to solicit applications for pilot projects to elucidate a role for understudied proteins associated with rare diseases. Awards will support generation of preliminary data and/or tools around eligible understudied protein(s). The next application deadline is October 17, 2022. 
 
Other grant opportunities from CIRM ca be found HERE.
Meetings of Interest to the FA Community
 
ASHG 2022 October 25-29, 2022 - Los Angeles, CA 
 
RNA at the Bench and Bedside III November 8-10, 2022 - Carlsbad, CA

Neuroscience 2022 November 12-16, 2022 - San Diego, CA 
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