Since 2011, our laboratory has offered a protein-based clinical assay to quantify frataxin concentrations in blood that is useful for low-cost, rapid FA screening and diagnosis. Here, we summarize our laboratory experience.
Monday, March 18, 2024
P003: Clinical laboratory experience of frataxin quantification in blood for the diagnosis of Friedreich ataxia*
Iris Pantovich, Amy White, April Studinski, Weiyi Mu, Bonnie Kaas, Matthew Bower, Gisele Pino, Dawn Peck, Kyle Salsbery, Emily Lauer, Angela Pickart, Kandelaria Rumilla, Wei Shen, Zhiyv Niu, Patricia Hall, Matthew Schultz, Dimitar Gavrilov, Silvia Tortorelli, Dietrich Matern, Ralitza Gavrilova, Devin Oglesbee, P003: Clinical laboratory experience of frataxin quantification in blood for the diagnosis of Friedreich ataxia*, Genetics in Medicine Open, Volume 2, Supplement 1, 2024, 100880, ISSN 2949-7744, doi:10.1016/j.gimo.2024.100880.
Thursday, March 14, 2024
Larimar Therapeutics Reports Fourth Quarter and Full Year 2023 Operating and Financial Results and Provides Update on Nomlabofusp Development
BALA CYNWYD, Pa., March 14, 2024 (GLOBE NEWSWIRE).
Positive top-line data from Phase 2 dose exploration study of nomlabofusp, which was generally well-tolerated, with dose-dependent increases in tissue frataxin levels observed
Initiated discussions with the Food and Drug Administration (FDA) on the potential use of tissue frataxin levels as a novel surrogate endpoint to support a Biologics License Application (“BLA”) submission for accelerated approval targeted for 2H 2025
In January 2024, initiated open label extension (OLE) study with 25 mg daily dosing of nomlabofusp, with first patient dosed in March 2024; interim data expected in Q4 2024
Standing Balance Conditions and Digital Sway Measures for Clinical Trials of Friedreich's Ataxia
Casey, H.L., Shah, V.V., Muzyka, D., McNames, J., El-Gohary, M., Sowalsky, K., Safarpour, D., Carlson-Kuhta, P., Schmahmann, J.D., Rosenthal, L.S., Perlman, S., Rummey, C., Horak, F.B. and Gomez, C.M. (2024), Standing Balance Conditions and Digital Sway Measures for Clinical Trials of Friedreich's Ataxia. Mov Disord. doi:10.1002/mds.29777
Three of the six standing conditions had completion rates over 70%. Of these three conditions, natural stance and feet together with EO showed the greatest completion rates. All six of the sway measures' mean values were significantly different between FRDA and HC. Four of these six measures discriminated between groups with >0.9 AUC in all three conditions. The Friedreich Ataxia Rating Scale Upright Stability and Total scores correlated with sway measures with P-values
Larimar Therapeutics Announces the Dosing of the First Patient in Long-term Open Label Extension Study for Nomlabofusp in Patients with Friedreich’s Ataxia
BALA CYNWYD, Pa., March 11, 2024 (GLOBE NEWSWIRE) -- Larimar Therapeutics, Inc. (“Larimar”) (Nasdaq: LRMR), a clinical-stage biotechnology company focused on developing treatments for complex rare diseases, today announced dosing of the first patient in an open label extension (OLE) study evaluating 25 mg daily subcutaneous injections of nomlabofusp in participants with Friedreich’s ataxia (FA). Nomlabofusp (CTI-1601) is a novel protein replacement therapy designed to address the root cause of Friedreich's ataxia (FA) by delivering frataxin to mitochondria.
Lexeo Therapeutics Reports Fourth Quarter and Full Year 2023 Financial Results and Operational Highlights
NEW YORK, March 11, 2024 (GLOBE NEWSWIRE). LX2006 for the Treatment of FA Cardiomyopathy: Announced preliminary frataxin protein expression data from the second dose cohort of SUNRISE-FA showing positive change in post-treatment frataxin levels three months following administration of LX2006. Lexeo expects to report additional interim data from the SUNRISE-FA Phase 1/2 clinical trial in mid-2024 with follow-up out to one year from the low-dose and multiple timepoints of follow-up expected from at least three patients treated at the mid-dose.
Wednesday, March 13, 2024
Generation and characterization of iPSC lines from Friedreich’s ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene’s first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A)
Istaq Ahmad, Asangla Kamai, Sana Zahra, Himanshi Kapoor, Achal Kumar Srivastava, Mohammed Faruq,
Generation and characterization of iPSC lines from Friedreich’s ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene’s first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A), Stem Cell Research, 2024, 103382,
doi:10.1016/j.scr.2024.103382.
Here, we developed iPSC lines from an FRDA patient (IGIBi016-A) and non-FRDA healthy control (IGIBi017-A). Both iPSC lines displayed typical iPSC morphology with pluripotency marker expression, regular karyotypes (46, XY; 46, XX), capacity to grow into three germ layers, and FRDA hallmark -GAA repeat expansion and decreased FXN mRNA. Through these iPSC lines, FRDA phenotypes may be replicated in the in vitro assays, by creating neuron subtypes, cardiomyocytes and 3D organoids, for molecular and cellular biomarkers and therapeutic applications.
Regulatory Pathway Widening for Cardiac Gene Therapy Hopefuls
Published: Mar 11, 2024. www.biospace.com
Lexeo Therapeutics is developing a gene therapy, LX2006, for Friedreich’s ataxia cardiomyopathy, for which the FDA has granted Rare Pediatric Disease designation and Orphan Drug designation.
In its Friedreich’s ataxia program, Lexeo is using both invasive and non-invasive biomarkers pretreatment and post-treatment to evaluate the one-time gene therapy’s efficacy. Townsend said he hopes the biomarker data will lead to an accelerated approval.
Wednesday, March 6, 2024
Vestibular Pathology as Early Finding of Friedreich's Ataxia in a 16 Years Old Woman
Fernández AG. Vestibular Pathology as Early Finding of Friedreich's Ataxia in a 16 Years Old Woman. Indian J Otolaryngol Head Neck Surg. 2024 Feb;76(1):1247-1250. doi: 10.1007/s12070-023-04249-4. Epub 2023 Oct 5. PMID: 38440644; PMCID: PMC10908728.
The development of vestibular pathology is common but not completely understood. A 16 years old woman with early vestibular defects in relation to a latter Friedreich's ataxia diagnosis is reported.
Saturday, March 2, 2024
Frataxin Traps Low Abundance Quaternary Structure to Stimulate Human Fe-S Cluster Biosynthesis
1. Cory S, Lin C-W, Havens S, Patra S, Putnam C, Shirzadeh M, et al. Frataxin Traps Low Abundance Quaternary Structure to Stimulate Human Fe-S Cluster Biosynthesis. ChemRxiv. 2024; doi:10.26434/chemrxiv-2024-v0gw7
This content is a preprint and has not been peer-reviewed.
The findings support architectural switching as a regulatory mechanism linked to FXN activation of the human Fe-S cluster biosynthetic complex and provide new opportunities for therapeutic interventions of the fatal neurodegenerative disease FRDA.
Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia
Lynch, D.R., Subramony, S., Lin, K.Y. et al. Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia. Pediatr Cardiol (2024). doi:10.1007/s00246-024-03429-5
The present study shows that some FRDA patients present based on cardiac features, suggesting that earlier identification of FRDA might occur through enhancing awareness of FRDA among pediatric cardiologists who see such patients. This is important in the context of newly identified therapies for FRDA
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