BALA CYNWYD, Pa., May 09, 2024 (GLOBE NEWSWIRE) -- Larimar Therapeutics, Inc. In March 2024, the first patient was dosed in the OLE study evaluating daily subcutaneous injections of 25 mg of nomlabofusp self-administered or administered by a caregiver. Participants who completed treatment in the Phase 2 dose exploration study, or who previously completed a prior clinical trial of nomlabofusp, are potentially eligible to screen for the OLE study. The OLE study will evaluate the safety and tolerability, pharmacokinetics, and frataxin levels in peripheral tissues as well as other exploratory phar ..read more

CARLSBAD, Calif., May 08, 2024 (GLOBE NEWSWIRE) -- Design Therapeutics, Inc.Friedreich Ataxia (FA) Design’s new drug product for FA, DT-216P2, demonstrates an improved pharmacokinetic (PK) profile, injection site profile and sustained drug exposure in nonclinical studies compared to the prior formulation. Design is on track to complete GLP studies for DT-216P2 by year-end 2024 to start patient trials in 2025. Read more ..read more

May 3, 2024. New data on SBT-589 (Stealth BioTherapeutics) presented at the 2024 Wellcome Trust Conference on Mitochondrial Medicine – Therapeutic Development, held March 18-20, in Cambridge, England, demonstrated cardioprotective effects across preclinical models of Friedreich ataxia (FA).1,2 These findings support further development of SBT-589, a novel molecule that can act on mitochondrial pathways that are impaired, and suggest the compound could be a disease-modifying therapy in FA cardiomyopathy.  Our major finding was that the novel compound, SBT-589, improved metrics of adverse c ..read more

Alemany-Perna, B., Tamarit, J., Cabiscol, E., Delaspre, F., Miguela, A., Huertas-Pons, J.M., Quiroga-Varela, A., Merchan Ruiz, M., López Domínguez, D., Ramió i Torrentà, L., Genís, D. and Ros, J. (2024), Calcitriol Treatment Is Safe and Increases Frataxin Levels in Friedreich Ataxia Patients. Mov Disord. doi:10.1002/mds.29808  Although the patients did not experience any observable neurological improvement, there was a statistically significant increase in frataxin levels from initial values, 5.5 to 7.0 pg/μg after 12 months. Differences in frataxin levels referred to total protein level ..read more

Grander, M., Haschka, D., Indelicato, E., Kremser, C., Amprosi, M., Nachbauer, W., Henninger, B., Stefani, A., Högl, B., Fischer, C., Seifert, M., Kiechl, S., Weiss, G. and Boesch, S. (2024), Genetic Determined Iron Starvation Signature in Friedreich's Ataxia. Mov Disord. doi:10.1002/mds.29819 In conclusion, we collected multiple findings suggestive of a systemic and cellular iron starvation signature in FA whose severity is determined by the genotype. We provided for the first-time quantitative MRI data on iron storages and parenchyma state in liver, spleen, and pancreas in FA in vivo. Our f ..read more

One-to-one Benefit provided by Antioxidants to cultured skin Fibroblasts from Friedreich Ataxia patients, Paule Bénit, Malgorzata Rak, Pierre Rustin, bioRxiv 2024.04.25.591088; doi: 10.1101/2024.04.25.591088  Under conditions that force the cells to rely on mitochondrial activity, we observed significant yet variable FRDA cell proliferation. These conditions were thereafter used to screen the effectiveness of a set of antioxidant molecules targeting different steps of the pro-oxidant cascade previously documented in FRDA, i.e. Uridine, Pyruvate, and Pioglitazone, to prevent or slow down ..read more

April 25, 2024. Astellas' Friedreich’s ataxia gene therapy cleared for clinical study after earlier version stumbled. On Thursday, the Japanese drugmaker announced the FDA has cleared its IND for ASP2016. Friedreich’s ataxia, a rare disease caused by the mutations in the gene for the protein frataxin, can cause both cardiac and neuromuscular complications, Wilson said. Addressing both in a single shot, as Astellas and several other companies had tried to do, turned out to be an “incredibly complicated problem” because of challenges in distribution, expression levels and therapeutic window, he ..read more

MELBOURNE, Australia and SAN FRANCISCO, April 29, 2024 (GLOBE NEWSWIRE) -- Alterity Therapeutics (ASX: ATH, NASDAQ: ATHE) (“Alterity” or “the Company”), a biotechnology company dedicated to developing disease modifying treatments for neurodegenerative diseases, today announced that important new data on its lead drug candidate ATH434 was presented at the World Orphan Drug Congress USA 2024 in Boston, MA.  The poster, entitled, “Biophysical Characteristics of ATH434, a Unique Iron-Targeting Drug for Treating Friedreich’s Ataxia”, was presented by Ashley Pall, Department of Pharmaceutical ..read more

BioSpace. Published: Apr 29, 2024. n February 2024, Larimar Therapeutics released positive Phase II data for its injectable subcutaneous investigational agent nomlabofusp in treating Friedreich’s ataxia, a rare disease that causes neuromuscular degeneration. The data indicate that Larimar could go head-to-head in the market with Biogen's Skyclarys, the only disease-specific therapy for Friedreich’s ataxia to so far receive FDA approval. Read more ..read more

Theodoros Georgiou, Petros P. Petrou, Anna Malekkou, Ioannis Ioannou, Marina Gavatha, Nicos Skordis, Paola Nicolaidou, Irini Savvidou, Emilia Athanasiou, Sofia Ourani, Elena Papamichael, Marios Vogazianos, Maria Dionysiou, Gabriella Mavrikiou, Olga Grafakou, George A. Tanteles, Violetta Anastasiadou, Anthi Drousiotou, Inherited metabolic disorders in Cyprus, Molecular Genetics and Metabolism Reports, Volume 39, 2024, 101083, ISSN 2214-4269, doi:10.1016/j.ymgmr.2024.101083.  The Cypriot population has a unique genetic composition which differs significantly from that of its neighbours. Th ..read more