Design Therapeutics Appoints Industry Veteran, Dr. João Siffert, as Chief Executive Officer

Design Therapeutics. San Diego, Calif., Oct. 20, 2020

Design Therapeutics, a biotechnology company developing a platform of gene targeted chimera (GeneTAC™) small molecules for the treatment of serious degenerative disorders caused by nucleotide repeat expansions, today announced that João Siffert, M.D., has been appointed as chief executive officer and will also join the Board of Directors. Dr. Siffert joins the founding Design Therapeutics team, including Pratik Shah, Ph.D., co-founder and executive chairman; Aseem Ansari, Ph.D., co-founder and director; and Sean Jeffries, Ph.D., chief business officer. Dr. Siffert brings extensive industry knowledge to Design, with 30 years combined experience in the biopharmaceutical industry, clinical practice and academia. 

 Design Therapeutics is a biotechnology company developing a new class of therapies based on a platform of gene targeted chimera (GeneTAC™) small molecules. The company’s lead program is focused on the treatment of Friedreich ataxia and discovery efforts are ongoing in other for serious degenerative disorders caused by nucleotide repeat expansions.

Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations

Perez-Lloret S, van de Warrenburg B, Rossi M, Rodríguez-Blázquez C, Zesiewicz T, Saute JAM, Durr A, Nishizawa M, Martinez-Martin P, Stebbins GT, Schrag A, Skorvanek M; and members of the MDS Rating Scales Review Committee; Mov Disord. 2020 Oct 6. doi: 10.1002/mds.28313

We identified some "recommended" scales and functional tests for the assessment of patients with major hereditary ataxias and other cerebellar disorders. The main limitations of these instruments include the limited assessment of patients in the more severe end of the spectrum and children. Further research in these populations is warranted.

Safety and Efficacy of Omaveloxolone in Friedreich's Ataxia (MOXIe Study)

Lynch, D.R., Chin, M.P., Delatycki, M.B., Subramony, S., Corti, M., Hoyle, J.C., Boesch, S., Nachbauer, W., Mariotti, C., Mathews, K.D., Giunti, P., Wilmot, G., Zesiewicz, T., Perlman, S., Goldsberry, A., O'Grady, M. and Meyer, C.J. (2020). Ann Neurol. Accepted Author Manuscript. doi:10.1002/ana.25934

In the MOXIe trial, omaveloxolone significantly improved neurological function compared to placebo and was generally safe and well tolerated. It represents a potential therapeutic agent in FRDA.

Reata Pharma Accused in Securities Suit of Hyping Drug Prospects

PHILADELPHIA, Oct. 16, 2020 (GLOBE NEWSWIRE) -- Kehoe Law Firm, P.C. is investigating potential securities claims on behalf of investors of Reata Pharmaceuticals, Inc. (“Reata” or the “Company”) (NASDAQ: RETA) to determine whether the Company engaged in securities fraud or other unlawful business practices. Omaveloxolone, according to the complaint, is “[a]mong Reata’s drug candidates under development . . . which is in Phase 2 clinical development to treat Friedreich’s ataxia (‘FA’). Following the announcement of positive data from the MOXIe Part 2 study of omaveloxolone for FA in October 2019, the Company represented that it would seek submission for marketing approval of omaveloxolone for the treatment of FA in the [United States] with the U.S. Food and Drug Administration (‘FDA’).” The Reata Defendants, according to the complaint, made false and/or misleading statements and/or failed to disclose that: (i) the MOXIe Part 2 study results were insufficient to support a single study marketing approval of omaveloxolone for the treatment of FA in the United States without additional evidence.

Longitudinal Study of Cognitive Functioning in Friedreich’s Ataxia

Atteneri Hernández-Torres, Fernando Montón, Stephany Hess Medler, Érika de Nóbrega and Antonieta Nieto; Longitudinal Study of Cognitive Functioning in Friedreich’s Ataxia. DOI:10.1017/S1355617720000958 Published online by Cambridge University Press: 14 October 2020

At follow-up, cerebellar symptoms had worsened, and patients presented greater disability. Differences between baseline and follow-up were observed in motor and cognitive reaction times, several trials of the Stroop test, semantic fluency, and block designs. No other cognitive changes were observed. Deterioration in simple cognitive reactions times and block designs performance correlated with the progression of cerebellar symptoms. Our study has demonstrated for the first time that patients with FRDA experience a significant decline over time in several cognitive domains. Specifically, after an eight-year period, FRDA patients worsened in processing speed, fluency, and visuoconstructive skills. This progression is unlikely to be due to greater motor or speech impairment.

Larimar Therapeutics Announces Formation of Scientific Advisory Board

BALA CYNWYD, Pa., Oct. 13, 2020 (GLOBE NEWSWIRE) -- Larimar Therapeutics, Inc. (Nasdaq:LRMR), a clinical-stage biotechnology company focused on developing treatments for complex rare diseases, today announced the formation of its Scientific Advisory Board (SAB). Larimar’s SAB is comprised of distinguished research scientists, professors and industry experts recognized as key opinion leaders in the fields of rare disease, pediatrics and mitochondrial disease. “Larimar is privileged to have this group of prestigious, multidisciplinary advisors who are committed to advancing the research and development of CTI-1601 for Friedreich’s ataxia,”

Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells

Vilema-Enríquez G, Quinlan R, Kilfeather P, Mazzone R, Saqlain S, Del Molino Del Barrio I, Donato A, Corda G, Li F, Vedadi M, Németh AH, Brennan PE, Wade-Martins R.; J Biol Chem. 2020 Oct 7:jbc.RA120.015533. doi: 10.1074/jbc.RA120.015533

Here, we identify that SUV4-20 histone methyltransferases, specifically SUV4-20 H1, play an important role in the regulation of FXN expression and represent a novel therapeutic target.

Sexual function, intimate relationships and Friedreich ataxia

Louise A. Corben, Mireille M. Hermans, Alice Marks, Louise M. Crowe & Martin B. Delatycki; J Neurol (2020). https://doi.org/10.1007/s00415-020-10258-y 

 This study confirmed FRDA impacts sexual functioning, sexual satisfaction and the capacity to form intimate relationships. Understanding the nature and extent of SD is critical to developing interventions and recommendations designed to enhance sexual function, sexuality, and intimate relationships for individuals with FRDA.

Sensitivity of Neuroimaging Indicators in Monitoring the Effects of Interferon Gamma Treatment in Friedreich’s Ataxia

Marinela Vavla, Filippo Arrigoni, Nicola Toschi, Denis Peruzzo, Maria Grazia D’Angelo, Sandra Gandossini, Annamaria Russo, Eleonora Diella, Stefania Tirelli, Roberto Salati, Alessandra Rufini, Ivano Condo, Roberto Testi and Andrea Martinuzzi; Front. Neurosci., 09 October 2020; doi:10.3389/fnins.2020.00872 

Advanced MRI imaging (diffusion tensor imaging, DTI; functional MRI, fMRI; and resting-state fMRI, rs-fMRI) and retinal imaging (optical coherence tomography, OCT) were tested longitudinally in a small group of Friedreich’s ataxia patients participating in an open-label clinical trial testing the safety and the efficacy of 6-month treatment with interferon gamma. Preliminary data encourage the use of MRI, in particular fMRI, as a non-invasive method to monitor treatment response in FRDA and to achieve a better understanding of the physiology behind the observed treatment-induced effects.

A Study to Assess the Efficacy and Safety of Vatiquinone for the Treatment of Participants With Friedreich Ataxia

ClinicalTrials.gov Identifier: NCT04577352

Randomized, Parallel-Arm, Double-Blind, Placebo-Controlled Study With Open-Label Extension to Assess the Efficacy and Safety of Vatiquinone for the Treatment of Friedreich Ataxia (MOVE-FA).

Lead Sponsor: PTC Therapeutics. Start Date November 17, 2020, Phase 2/Phase 3, Location Countries: Australia, Canada, Italy, United States. The primary objective of the study is to evaluate the efficacy (using the modified Friedreich Ataxia Rating Scale [mFARS]) and safety of vatiquinone in participants with Friedreich ataxia (FA).