The International Congress for Ataxia Research (ICAR) was held on November 1-4, 2022, at Renaissance Dallas Addison Hotel in Dallas, Texas, USA. It was a successful collaborative effort with our colleagues at the National Ataxia Foundation and Ataxia UK.
With 458 delegates, over 330 abstract submissions and more than 110 oral presentations this was the largest international ataxia conference ever! We are ecstatic that more than one third of the participants were junior investigators, and we remain committed to bringing new talent to the field and supporting the next generation of Ataxia researchers.
The program was exciting and engaging. It started with a keynote address by Nina Schor- NIH Deputy Director for Intramural Research, who talked about the role of academia, industry, patient and family advocates and government for successful ataxia clinical trials, followed by an inspiring panel of ataxia patients who shared their life experiences with ataxia. The conference concluded with some thought-provoking late-breaking research.
You can view abstracts and the full program HERE.
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C-Path and EFACTS Announce
Data Sharing Agreement
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Critical Path Institute (C-Path) and the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) announced a data sharing agreement to incorporate patient data into C-Path’s Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP®) solidifying RDCA-DAP as the largest worldwide database for Friedreich’s ataxia. Click HERE to read the full press release.
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Reata Pharmaceuticals Announces that the FDA Does Not Plan to Hold an Advisory Committee Meeting to Discuss the NDA for Omaveloxolone for Friedreich’s Ataxia
Reata Pharmaceuticals, announced that the U.S. Food and Drug Administration has informed the Company that it does not plan to hold an advisory committee meeting in connection with its review of the Company’s New Drug Application for omaveloxolone for the treatment of patients with Friedreich’s ataxia. Click HERE to read the full press release.
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Recent FARA Funded FA Publications
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Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS.
Rummey C, Harding IH, Delatycki MB, Tai G, Rezende T, Corben LA.
In this paper, the authors apply the modified Friedreich Ataxia Rating Scale (mFARS), the Scale for the Assessment and Rating of Ataxia (SARA), and the International Cooperative Ataxia Rating Scale (ICARS) to a large cohort of people with Friedreich's ataxia, provide regression coefficients for scale interconversion and discuss insights into the differential sensitivities of mFARS and SARA to disease progression.
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases.
Corben LA, Collins V, Milne S, Farmer J, Musheno A, Lynch D, Subramony S, Pandolfo M, Schulz JB, Lin K, Delatycki MB; Clinical Management Guidelines Writing Group.
In this paper, the Grading of Recommendations Assessment and Evaluation (GRADE) framework for rare diseases developed by the RARE-Bestpractices Working Group was adopted to update the clinical guidelines for FRDA. A panel representing international clinical experts, stakeholders and consumer groups provided oversight to guideline development within the GRADE framework.
Spinal cord magnetic resonance imaging and spectroscopy detect early-stage alterations and disease progression in Friedreich ataxia.
Joers JM, Adanyeguh IM, Deelchand DK, Hutter DH, Eberly LE, Iltis I, Bushara KO, Lenglet C, Henry PG.
Here, the authors investigated early-stage cross-sectional alterations and longitudinal changes in the cervical spinal cord in Friedreich ataxia, using a multimodal magnetic resonance protocol comprising morphometric (anatomical MRI), microstructural (diffusion MRI), and neurochemical (1H-MRS) assessments.
Selection of Synthetic Proteins to Modulate the Human Frataxin Function.
Pignataro MF, Herrera MG, Fernández N, Aran M, Gentili H, Bataglini F, Santos J.
Here the authors have investigated the possibility of obtaining small proteins exhibiting a high affinity for frataxin. Affi_224, one of the proteins that were selected after five rounds of selection, was able to increase Cys NFS1 desulfurase activation exerted by the FRDA frataxin variant G130V.
SARS-CoV-2 in patients with Friedreich ataxia.
Shen MM, Rodden LN, McIntyre K, Arias A, Profeta V, Schadt K, Lynch DR.
This study reviews the course and outcomes of COVID-19 in a single site sub-cohort of a large natural history study to examine characteristics of FRDA that may guide future risk stratification in this population.
Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia.
Rezende TJR, Adanyeguh IM, Arrigoni F, Bender B, Cendes F, Corben LA, Deistung A, Delatycki M, Dogan I, Egan GF, Göricke SL, Georgiou-Karistianis N, Henry PG, Hutter D, Jahanshad N, Joers JM, Lenglet C, Lindig T, Martinez ARM, Martinuzzi A, Paparella G, Peruzzo D, Reetz K, Romanzetti S, Schöls L, Schulz JB, Synofzik M, Thomopoulos SI, Thompson PM, Timmann D, Harding IH, França MC Jr.
The objective of this study was to perform a characterization of cervical spinal cord structural damage in a large multisite FRDA cohort. The authors performed a cross-sectional analysis of cervical spinal cord (C1-C4) cross-sectional area and eccentricity using magnetic resonance imaging data from eight sites within the ENIGMA-Ataxia initiative.
Characteristics of the Isu1 C-terminus in relation to [2Fe-2S] cluster assembly and ISCU Myopathy.
Lewis BE, Campbell CJ, Rodrigues A, Thompson L, Pandey AK, Gallagher SN, Pain D, Dancis A, Stemmler TL.
In this report, the yeast ISCU ortholog "Isu1" has been characterized to gain a better understanding of the role of the scaffold protein in relation to [2Fe-2S] assembly and ISCU Myopathy.
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Phenotype and management of neurologic intronic repeat disorders (NIRDs).
Finsterer J.
This review aims at summarizing and discussing previous findings and recent advances concerning the etiology, pathophysiology, clinical presentation, and therapeutic management of the most common NIRDs.
Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC-neurons and cardiomyocytes.
Angulo MB, Bertalovitz A, Argenziano MA, Yang J, Patel A, Zesiewicz T, McDonald TV.
In this study, the authors generated iPSC-derived neurons and cardiomyocytes from an FRDA patient and upregulated FXN expression via lentivirus to get insight into specific roles of frataxin deficiency pathogenesis in neurons and cardiomyocytes.
Evolution of an Iron-Detoxifying Protein: Eukaryotic and Rickettsia Frataxins Contain a Conserved Site Which Is Not Present in Their Bacterial Homologues.
Alves R, Pazos-Gil M, Medina-Carbonero M, Sanz-Alcázar A, Delaspre F, Tamarit J.
In this work, the authors analyze conservation of amino acid sequence and protein structure among frataxins and CyaY proteins to identify four highly conserved residue clusters and group them into potential functional clusters.
Blood Transcript Biomarkers Selected by Machine Learning Algorithm Classify Neurodegenerative Diseases including Alzheimer's Disease.
Huseby CJ, Delvaux E, Brokaw DL, Coleman PD.
In this study, the authors set out to discover a small set of blood transcripts that can be used to distinguish healthy individuals from those with Alzheimer's disease, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, Friedreich's ataxia, or frontotemporal dementia.
Prediction of the disease course in Friedreich ataxia.
Hohenfeld C, Terstiege U, Dogan I, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Fichera M, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodríguez de Rivera Garrido FJ, Schöls L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Rauhut H, Schulz JB, Reetz K.
This study explores whether disease severity of Friedreich ataxia can be predicted using data from clinical examinations.
The Effect of Positive Charge Distribution on the Cryoprotective Activity of Dehydrins.
Smith MA, Graether SP.
Here, the authors examine the importance of positive charges in dehydrin sequences by making substitutions and comparing their effects in the cryoprotection of two different proteins, yeast frataxin homolog-1 (Yfh1) and lactate dehydrogenase (LDH).
RNA as a Major-Groove Ligand: RNA-RNA and RNA-DNA Triplexes Formed by GAA and UUC or TTC Sequences.
Zhang J, Fakharzadeh A, Roland C, Sagui C.
Here, the authors present an in silico investigation of all possible triplexes formed by GAA:TCC repeats by attaching a third RNA strand to an RNA:RNA or DNA:DNA duplex, complementing previous DNA-based triplex studies.
The Use of Enhanced Recovery After Surgery Protocols and Sugammadex in a Friedreich Ataxia Patient Who Underwent Robotic Surgery: A Case Report of a Patient Who Required No Postoperative Opioids and Was Discharged Home Earlier Than Anticipated.
Russo LP, Haddad D, Bauman D, Fam MM.
This is a case report discussing anesthesia management, use of Enhanced Recovery After Surgery and sugammadex for robotic surgery in an FRDA patient.
Cobalt chloride has beneficial effects across species through a hormetic mechanism.
Schiavi A, Runci A, Maiorino T, Naso FD, Barenys M, Fritsche E, Strappazzon F, Ventura N.
Here, the authors test the potential beneficial effects of non-toxic, preconditioning interventions acting on iron. The investigators find that limiting iron availability through the iron competing agent cobalt chloride has evolutionarily conserved dose-dependent beneficial effects.
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FARA Newly Awarded Research Grants
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Keith Michael Andrus Cardiac Research Award
Laura Kropp, PhD (Stealth Biotherapeutics)
Advancing novel mitochondrial therapies for FA cardiomyopathy: a pragmatic collaboration to move new therapies forward
Award for Innovative Mindset
Pei-Yu Chen, PhD (Yale University)
TGFβ signaling activity as disease biomarkers and therapeutic targets in Friedreich’s Ataxia
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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:
December 13, 2022 – 12:00PM ET
Erin Seifert, Thomas Jefferson University
January 10, 2023 -12:00PM ET
Elisabetta Indelicato, Medical University of Innsbruck
February 14, 2023 – 12:00PM ET
Natalia Gomez-Ospina, Stanford University
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- KMA Cardiac Award, KB Translational Research Award and BJK 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.
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 March 15, 2023.
Other grant opportunities from CIRM can be found HERE.
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Meetings of Interest to the FA Community |
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ASGCT May 16-20, 2023 Los Angeles, CA
ISSCR June 14-17, 2023 Boston
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