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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.


A new tool to determine the cellular metabolic landscape: nanotechnology to the study of Friedreich's ataxia

Understanding the cell response to oxidative stress in disease is an important but difficult task. Here, the authors demonstrate the feasibility of using a nanomotion sensor to study the cellular metabolic landscape. This nanosensor permits the non-invasive real-time detection at the single-cell level and offers high sensitivity and time resolution. The technique was optimised to study the effects of frataxin overexpression in a cellular model of Friedreich's ataxia. Previous studies had demonstrated that FXN overexpression are as toxic as silencing, thus indicating the importance of a tight regulation of the frataxin levels. The effects of frataxin overexpression was probed in the presence of oxidative stress insults and the metabolic response measured by the nanosensor. The authors show that the nanosensor provides new detailed information on the metabolic state of the cell as a function of time that agrees with and complements data obtained by more traditional techniques. The authors propose that the nanosensor can be used in the future as a new and powerful tool to study directly how drugs modulate the effects of oxidative stress on Friedreich's ataxia patients and, more in general, on other neurodegenerative processes.

Read the entire article HERE

Electrophysiological evidence for limited progression of the proprioceptive impairment in Friedreich ataxia

Cortico-kinematic coherence (CKC) is the coupling between movement-related proprioceptive inputs and the activity of the contralateral primary sensorimotor cortex activity recorded by magnetoencephalography or electroencephalography. CKC is an electrophysiological marker of spino-cortical proprioceptive function with high test-retest reliability. In a cohort of FRDA patients, the CKC levels were reduced by about 70% and correlated with the size of GAA1 triplet expansion and the age of symptoms onset suggesting that proprioceptive impairment in FRDA is genetically determined and scarcely progressive after symptoms onset. Here, the authors re-tested the same FRDA patients after 1 year to assess whether the CKC levels deteriorate over time or whether they remain stable as a sign of early developmental proprioceptive impairment.

Read the entire article HERE

Neurochemical profiles in hereditary ataxias: A meta-analysis of Magnetic Resonance Spectroscopy studies

Magnetic resonance spectroscopy (MRS) is applied to investigate the neurochemical profiles of degenerative hereditary ataxias. This meta-analysis provides a quantitative review and reappraisal of MRS findings in spinocerebellar ataxias (SCA) and Friedreich ataxia (FA) available to date. From each study, changes in N-acetyl aspartate (NAA), choline-containing compounds (Cho) and myo-Inositol (mI) ratios to total creatine (Cr) were calculated for groups of patients (1499 patients in total: SCA1 = 223, SCA2 = 298, SCA3 = 711, SCA6 = 165, and FA = 102) relative to their own control group, mostly in cerebellum and pons. SCA1, 2, 3, 6, and FA patients showed overall decreased NAA/Cr compared to controls. Decreased Cho/Cr was visible in SCA1, 2, and 3 and elevated mI/Cr in SCA2 patients in cerebellum. In SCA6 and FA Cho/Cr and mI/Cr did not differ with respect to controls but SCA6 patients indicated higher Cho/Cr compared to SCA1 patients in cerebellum. SCA2 subjects showed the lowest NAA/Cr and Cho/Cr in cerebellum and the highest mI/Cr compared to controls and other genotypes, and therefore the most promising results for a potential biomarker.

Read the entire article HERE

Iron Hack - A symposium/hackathon focused on porphyrias, Friedreich's ataxia, and other rare iron-related diseases

Hackathons are an effective avenue for the generation of software prototypes in the biomedical informatics space. A long-standing interest and active research programs on rare diseases, including Friedreich’s ataxia and porphyrias at the University of South Florida (USF), prompted the proposal of a modified version of the National Center for Biotechnology Information's (NCBI) Hackathon-model to take full advantage of local expertise in building "Iron Hack", a rare disease-focused hackathon. Organizers facilitated a symposium on rare iron-related diseases, specifically porphyrias and Friedreich's ataxia, pitched at general audiences. The hackathon was structured to begin each day with presentations by expert clinicians, genetic counselors, researchers focused on molecular and cellular biology, public health/global health, genetics/genomics, computational biology, bioinformatics, biomolecular science, bioengineering, and computer science, as well as guest speakers from the American Porphyria Foundation (APF) and Friedreich's Ataxia Research Alliance (FARA) to inform participants as to the human impact of these diseases. As a result of this hackathon, resources were developed that are relevant not only to these specific disease-models, but also to other rare diseases and general bioinformatics problems. Within two and a half days, "Iron Hack" participants successfully built collaborative projects to visualize data, build databases, improve rare disease diagnosis, and study rare-disease inheritance. The purpose of this manuscript is to demonstrate the utility of a hackathon model to generate prototypes of generalizable tools for a given disease and train clinicians and data scientists to interact more effectively.

Read the entire article HERE

Chondrial Therapeutics Announces Dosing of First Patients in Phase 1 Clinical Program of CTI-1601 for Treatment of Friedreich’s Ataxia

CTI-1601 granted Rare Pediatric Disease Designation and Fast Track Designation by U.S. FDA

BALA CYNWYD, Pa., Dec. 18, 2019 (GLOBE NEWSWIRE) -- Chondrial Therapeutics, a clinical-stage biotechnology company focused on developing treatments for rare diseases, with an initial focus on Friedreich’s ataxia (FA), today announced that the first patients have been dosed in a Phase 1 clinical trial to evaluate the safety and tolerability of single ascending doses of CTI-1601. CTI-1601 is a recombinant fusion protein intended to deliver human frataxin to patients with FA, who have decreased levels of frataxin.

"CTI-1601 is designed to address the root cause of Friedreich’s ataxia – low levels of frataxin. The initiation of our Phase 1 clinical program was supported by positive preclinical data and is an important step forward for patients affected by FA, a devastating and progressive disease for which there is no cure," said Carole Ben-Maimon, MD, President and Chief Executive Officer of Chondrial Therapeutics. "We separately announced today a merger that will provide us with significant resources to advance our development of CTI-1601 and expand our efforts in other rare diseases that may benefit from a cell-penetrating peptide approach."

View the entire Press Release Here

Page 14 of 189

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