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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.

Activation of a type I interferon response associated with acute frataxin knockdown in iPSC-derived cardiomyocytes

Frataxin functions in the biogenesis of iron-sulfur clusters, which are prosthetic groups that are found in proteins involved in many biological processes. To study the changes associated with decreased frataxin in human cardiomyocytes, the authors developed a novel isogenic model by acutely knocking down frataxin, post-differentiation, in cardiomyocytes derived from induced pluripotent stem cells. Transcriptome analysis of four biological replicates identified severe mitochondrial dysfunction and a type I interferon response as the pathways most affected by frataxin knockdown. In iPSC-derived cardiomyocytes, loss of frataxin leads to mitochondrial dysfunction. The type I interferon response was activated in multiple cell types following acute frataxin knockdown and was caused, at least in part, by release of mitochondrial DNA into the cytosol, activating the cGAS-STING sensor pathway.

Read the Full article here

Register before October 1st for discounted pricing for ICAR

The International Congress for Ataxia Research (ICAR) 2002 will be held November 1-4, 2022 in Dallas, TX and will include plenary sessions, poster sessions, breakouts and workshops. Featured topics include: gene discovery, disease mechanisms, cerebellar non-motor circuits and functions, emerging and existing therapeutics, biomarkers and late breaking research. ICAR will also feature workshops with practical demonstrations, discussions on challenges of new and established technologies, and sessions specifically designed by and for junior investigators. On October 1, the registration price will increase by $100.

Read More Here

Larimar Therapeutics Announces FDA has Partially Lifted the Clinical Hold and Plans for a Phase 2 Dose Exploration Trial of CTI-1601 in Friedreich’s Ataxia Patients

The FDA has cleared the initiation of 25 mg cohort of a Phase 2, four-week, placebo-controlled, dose exploration trial of CTI-1601 in Friedreich’s ataxia (FA) patients. In a written communication to Larimar, the FDA indicated it was lifting its full clinical hold on the CTI-1601 program and imposing a partial hold. The FDA will review data from the 25 mg cohort prior to escalating the dose in the second cohort. Larimar expects to begin the Phase 2 trial in Q4 2022.

Larimar’s upcoming Phase 2 trial is designed to further characterize CTI-1601’s safety, pharmacodynamic (PD), and pharmacokinetic (PK) profiles to provide information about the preferred long-term dose and dose regimen. Eligible patients will include ambulatory and non-ambulatory individuals with FA who are at least 18 years old.

Click here for the full press release which contains additional background and information on this program:

FARA is working with Larimar to host a webinar with Larimar Therapeutics for the patient community next week. We will share date and time and registration details in the next few days.

A promissing mouse model for Friedreich Ataxia progressing like human patients

Many groups worked on the creation of FRDA mouse models by decreasing the mouse frataxin or knocking it out, or by introducing a transgene with a human frataxin with long GAA repeat. Most of the mouse models are limited to one problem, either neurologic or cardiac symptoms, and, for those that have both, generally these symptoms are too severe, and mice have a very short life span, which does not reflect the human disease's progression. Jackson Laboratories Inc. developed a new mouse model that has 800 GAA repeats. The authors report here that the YG8-800 mice show progressively worsening locomotion and balance phenotypes starting at 11 to 20 weeks depending on the behavioral test. Moreover, these mice showed at 26 weeks a heart hypertrophy characterized by an increased heart to body weight ratio. YG8-800 mice are thus currently a promising mouse model for FRDA.

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The C-Terminal Cross-linked Telopeptide of Type I Collagen (CTX-I) as a Potential Cardiomyopathy Biomarker in Friedreich Ataxia Patients

The presence of Cardiomyopathy (CM) in Friedreich's ataxia (FRDA) is variable and the risk factors for cardiac involvement are not entirely clear. Markers of collagen degradation, such as C-terminal cross-linked telopeptide of type I collagen (CTX-I), seem to be associated with unfavorable cardiovascular outcomes. The aim of this study was to measure serum CTX-I as a marker of cardiac fibrosis in FRDA patients. The authors measured serum CTX value in twenty-five FRDA patients (mean age, 31.3 ± 14.7 years) and nineteen healthy controls (mean age, 34.0 ± 13.5 years). Patients underwent echocardiography and SARA scale evaluation. CTX values were significantly higher in the patients than in the control group (31.82 ± 2.27 vs 16.44 ± 1.6 μg/L; p = 0.006). CTX-I was inversely correlated with age (R = - 0,535; n = 44; p < 0.001). The regression model identified disease duration and TT3 levels to be independent predictors of CTX-I (model R2 = 0.938; intercept - 64.0, p = 0.071; disease duration coefficient = - 2.34, p = 0.005; TT3 coefficient = 127.17, p = 0.011). CTX-I, a biomarkers of collagen turnover, is elevated in FRDA and should provide complementary information to identify patients with high cardiological risk even if longitudinal studies are needed to define the role of this serologic marker of collagen metabolism in the natural history of cardiomyopathy in FRDA patients.

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