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

Tommaso Vannocci, Simone Dinarelli, Marco Girasole, Annalisa Pastore & Giovanni Longo; Sci Rep 9, 19282 (2019) doi:10.1038/s41598-019-55799-z

Accordingly, the disease starts appearing when the frataxin levels are below 30% those of healthy controls and are 10–35% the normal levels in FRDA patients. On the other hand, it was found that frataxin overexpression is not a solution as a therapeutic strategy: overexpression seems to be as toxic as its partial depletion. This observation is perfectly coherent with the current hypothesis that frataxin functions as a regulator of the process of conversion of cysteine into alanine through interaction with the desulfurase central to the machine of the iron sulfur cluster biogenesis machine.

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

G. Naeije, M. Bourguignon, V. Wens, B. Marty, S. Goldman, R. Hari, V. Jousmäki, M. Pandolfo, X. De Tiège; Clinical Neurophysiology, 2019, Doi: 10.1016/j.clinph.2019.10.021

In any case, our study, using an objective follow-up of upper limb spino-cortical proprioceptive function in FRDA patients, pro- vides additional empirical evidence suggesting limited progressiv- ity of an early established patrhology of dorsal columns and DRG.

Zafgen and Chondrial Therapeutics Announce Definitive Merger Agreement

BOSTON and BALA CYNWYD, Pa., Dec. 18, 2019 (GLOBE NEWSWIRE) -- Zafgen, Inc. (ZFGN) and Chondrial Therapeutics, Inc., today announced they have entered into a definitive merger agreement under which Chondrial will become a wholly-owned subsidiary of Zafgen and the stockholders of Chondrial Therapeutics will become the majority owners of Zafgen’s outstanding common stock upon the close of the merger. The proposed merger will result in a combined publicly traded, clinical-stage biopharmaceutical company operating under a new name, Larimar Therapeutics, Inc.

Creates clinical-stage company focused on the development of novel protein replacement therapies for rare diseases

Chondrial Therapeutics separately announced today that Phase 1 dosing in patients began this month and that CTI-1601 has received Rare Pediatric Disease (RPD) Designation and Fast Track Designation from the U.S. Food and Drug Administration (FDA). Topline results from the Phase 1 clinical program are expected by the end of 2020.

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

Exicure : Announces First Neurological Development Program in Friedreich's Ataxia and Expands Scientific Advisory Board

12/17/2019, CHICAGO - Exicure, Inc. (NASDAQ: XCUR), the pioneer in gene regulatory and immunotherapeutic drugs utilizing spherical nucleic acid (SNA) technology, today announced Friedreich's ataxia (FA) as the therapeutic indication for the company's first neurology development program.
Exicure's FA program will be designed and developed with guidance from and in collaboration with FARA.

Cellular Stress-Modulating Drugs Can Potentially Be Identified by in Silico Screening with Connectivity Map (CMap)

Gao Y, Sungwoo Kim, Lee YI, Lee J; International Journal of Molecular Sciences, 09 Nov 2019, 20(22) DOI: 10.3390/ijms20225601

A target-based drug discovery method currently being used widely (reverse pharmacology) may not be adequate to uncover novel drugs targeting cellular stresses and related diseases. The connectivity map (CMap) is an online pharmacogenomic database cataloging gene expression data from cultured cells treated individually with various chemicals, including a variety of phytochemicals. Moreover, by querying through CMap, researchers may screen registered chemicals in silico and obtain the likelihood of drugs showing a similar gene expression profile with desired and chemopreventive conditions. Thus, CMap is an effective genome-based tool to discover novel chemopreventive drugs.