Quantitative Assessment of Friedreich Ataxia via Self-Drinking Activity

R. Krishna, P. N. Pathirana, M. K. Horne, L. A. Corben and D. J. Szmulewicz; IEEE Journal of Biomedical and Health Informatics, vol. 25, no. 6, pp. 1985-1996, June 2021, doi: 10.1109/JBHI.2021.3069007. 

Effective monitoring of the progression of neurodegenerative conditions can be significantly improved by objective assessments. Clinical assessments of conditions such as Friedreich's Ataxia (FA), currently rely on subjective measures commonly practiced in clinics as well as the ability of the affected individual to perform conventional tests of the neurological examination. In this study, we propose an ataxia measuring device, in the form of a pressure canister capable of sensing certain kinetic and kinematic parameters of interest to quantify the impairment levels of participants particularly when engaged in an activity that is closely associated with daily living. In particular, the functional task of simulated drinking was utilised to capture characteristic features of disability manifestation in terms of diagnosis (separation of individuals with FA and controls) and severity assessment of individuals diagnosed with the debilitating condition of FA. Time and frequency domain analysis of these biomarkers enabled the classification of individuals with FA and control subjects to reach an accuracy of 98% and a correlation level reaching 96% with the clinical scores.

Coexistence of Tyrosinemia and Friedreich Ataxia in a Single Patient: Treatment with Liver Transplantation

Diya Cherian, Kimberly Schadt, Courtney Park, Stephanie Veasey, David Goldberg, David Lynch; Ann Case Report 6: 581. DOI: 10.29011/2574-7754.100581

Here we describe a young woman with coincidental presence of both FRDA and HT1, focusing on possible interactions between HT1 and FRDA, as well as her treatment by liver transplantation.

Rescue of central and peripheral neurological phenotype of friedreich's ataxia by intravenous delivery

Application US16/651,617- Assigned to VOYAGER THERAPEUTICS, INC. 

Described herein are compositions and methods for treating Friedreich's Ataxia (FA) using adeno-associated virus (AAV) to deliver therapeutics agents.

AavantiBio lands manufacturing partner in Friedreich's Ataxia program; NC Research Triangle lands another CDMO

June 3, 2021. ENDPOINTNEWS. AavantiBio and Resilience have announced a collaboration to manufacture a pipeline of therapies, including AavantiBio’s Friedreich’s Ataxia program, the company announced Thursday. 

The new facility will double its existing footprint, and support development, clinical and small-scale commercial manufacturing. The site is just a few miles from its current office, and will meet all FDA, EMA and GMP requirements, the company said.

FARA FA Pipeline Webinar - Jun 2, 2021

Molecular Details of the Frataxin–Scaffold Interaction during Mitochondrial Fe–S Cluster Assembly

Campbell, C.J.; Pall, A.E.; Naik, A.R.; Thompson, L.N.; Stemmler, T.L.; Int. J. Mol. Sci. 2021, 22, 6006. doi:10.3390/ijms22116006

Molecular Details of the Frataxin–Scaffold Interaction during Mitochondrial Fe–S Cluster Assembly

Results of a randomized double-blind study evaluating luvadaxistat in adults with Friedreich ataxia

Hao Wang, Jonathan Norton, Lin Xu, Nicholas DeMartinis, Rohini Sen, Ankit Shah, Jennifer Farmer, David Lynch; Annals of Clinical and Translational Neurology. 2021 May. DOI: 10.1002/acn3.51373.

Luvadaxistat (also known as TAK-831; NBI-1065844) was safe and well tolerated in this cohort of adults with FRDA; however, it did not demonstrate efficacy as a treatment for this condition.

SAFETY AND EFFICACY OF THE STEM CELL TRANSPLANTATION IN FRIEDREICH’S ATAXIA: A REPORT OF THREE CASES

Riza Azeri, Duygu Koyuncu Irmak, Eda Sun, Erdal Karaöz; Int J Physiother. Vol 8(1), 31-35, February (2021) doi:10.15621/ijphy/2021/v8i1/903 

Case Summary: Here, we report three FRDA cases treated with four consecutive allogeneic transplantations of umbilical cord-derived MSCs with 30 days interval, upon per patient regulatory approvals for advanced cellular therapy. Outcome Measures: The cases were followed up after the treatment in means of the therapeutic effect of the cellular treatment by attenuating the neurological findings and gene expression parameters. Conclusions: Closely followed promising safety and efficacy outcomes demonstrated that the MSC treatment for FRDA might positively affect the clinical results caused by the defect in this genetic-based disease.

An unusual combination of large Eustachian valve in a young patient with Friedreich's ataxia cardiomyopathy

Stylianos A. Karvounaris, Georgios S. Papaetis, Petros P. Mavrommatis; Cardiol J 2021;28(3):498-499. DOI: 10.5603/CJ.2021.0051 According to available research this is the first published description of a large Eustachian valve in a patient with FA-CM.

Gene therapy in PIDs, hemoglobin, ocular, neurodegenerative, and hemophilia B disorders

Odiba AS, Okoro NO, Durojaye OA, Wu Y., Open Life Sciences. 2021 ;16(1):431-441. DOI: 10.1515/biol-2021-0033.

Molecular biology and biotechnology tools remained important elements in gene therapy. Gene editing/modification (replacement, insertion, and deletion) largely characterizes this field of biological sciences. The idea of gene therapy was implemented clinically about three decades ago as an alternative to the limitations of pharmacotherapy. Approximately 3,000 known clinical trials are on record. Some limitations are associated with gene therapy; and hence, the need to improve on the current strategies. This has resulted in sophisticated tools using viral and nonviral vectors. Although most of the gene therapy studies are directed toward cancer worldwide, other areas of notable disease require the gene therapy approach; and these include primary immunodeficiency disorders (PIDs), hemoglobin, hemophilia B, ocular, and neurodegenerative disorders.