Design Therapeutics Highlights Pipeline Progress and Upcoming Milestones and Reports Third Quarter 2022 Financial Results

CARLSBAD, Calif., Nov. 03, 2022 (GLOBE NEWSWIRE) -- Design Therapeutics, Inc. (Nasdaq: DSGN), a clinical-stage biotechnology company developing treatments for serious degenerative genetic diseases, today highlighted recent progress and anticipated upcoming milestones across its clinical and research-stage pipeline of novel GeneTAC™ small molecules and reported third quarter 2022 financial results.

Design is evaluating DT-216 in a Phase 1 single-ascending dose (SAD) clinical trial in adult patients with FA, and plans to report initial SAD data, including safety, tolerability, pharmacokinetics and FXN levels in December 2022.

Design plans to complete the MAD trial in mid-2023.

Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia, A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES)

Massimo Pandolfo, Kathrin Reetz, Alejandra Darling, Francisco Javier Rodriguez de Rivera, Pierre-Gilles Henry, James Joers, Christophe Lenglet, Isaac Adanyeguh, Dinesh Deelchand, Fanny Mochel, Françoise Pousset, Sílvia Pascual, Delphine Van den Eede, Itziar Martin-Ugarte, Anna Vilà-Brau, Adriana Mantilla, María Pascual, Marc Martinell, Uwe Meya, Alexandra Durr Neurol Genet Dec 2022, 8 (6) e200034; DOI: 10.1212/NXG.0000000000200034 

 The primary endpoint of change in spinal cord area was not met. Secondary endpoints provide evidence supporting proof of concept for leriglitazone mode of action and, with acceptable safety data, support larger studies in patients with FRDA.

Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia

Thiago J.R. Rezende PhD, Isaac M. Adanyeguh PhD, Filippo Arrigoni MD, Benjamin Bender MD, Fernando Cendes MD, PhD, Louise A. Corben PhD, Andreas Deistung PhD, Martin Delatycki PhD, Imis Dogan PhD, Gary F. Egan PhD, Sophia L. Göricke MD, Nellie Georgiou-Karistianis PhD, Pierre-Gilles Henry PhD, Diane Hutter RN, Neda Jahanshad PhD, James M. Joers PhD, Christophe Lenglet PhD, Tobias Lindig MD, Alberto R.M. Martinez MD, PhD, Andrea Martinuzzi MD, PhD, Gabriella Paparella MD, Denis Peruzzo PhD, Kathrin Reetz MD, Sandro Romanzetti PhD, Ludger Schöls, Jörg B. Schulz MD, Matthis Synofzik MD, Sophia I. Thomopoulos BA, Paul M. Thompson PhD, Dagmar Timmann MD, Ian H. Harding PhD, Marcondes C. França Jr MD, PhD; (2022), Mov Disord. doi:10.1002/mds.29261 

The objective of this study was to perform a characterization of cervical spinal cord structural damage in a large multisite FRDA cohort. Previous research has shown that increased eccentricity reflects dorsal column (DC) damage, while decreased CSA reflects either DC or corticospinal tract (CST) damage, or both. Hence our data support the hypothesis that damage to the DC and damage to CST follow distinct courses in FRDA: developmental abnormalities likely define the DC, while CST alterations may be both developmental and degenerative. These results provide new insights about FRDA pathogenesis and indicate that CSA of the cervical spinal cord should be investigated further as a potential biomarker of disease progression.

Spinal cord magnetic resonance imaging and spectroscopy detect early-stage alterations and disease progression in Friedreich ataxia

James M Joers, Isaac M Adanyeguh, Dinesh K Deelchand, Diane H Hutter, Lynn E Eberly, Isabelle Iltis, Khalaf O Bushara, Christophe Lenglet, Pierre-Gilles Henry; Brain Communications, Volume 6, Issue 5, October 2022, fcac246, doi:10.1093/braincomms/fcac246

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Larimar Therapeutics Announces Issuance of U.S. Patent Providing Composition of Matter Protection for CTI-1601

BALA CYNWYD, Pa., Oct. 20, 2022 (GLOBE NEWSWIRE) -- Larimar Therapeutics, Inc. (“Larimar”) (Nasdaq: LRMR), a clinical-stage biotechnology company focused on developing treatments for complex rare diseases, today announced the issuance of U.S. Patent No. 11,459,363. The patent, titled, “Materials and Methods for Treating Friedreich's Ataxia,” provides composition of matter protection for CTI-1601 into at least July 2040. Larimar has an exclusive license to the patent per a prior agreement with Indiana University.

Children with a rare congenital genetic disorder: a systematic review of parent experiences

von der Lippe, C., Neteland, I. & Feragen, K.B.; Orphanet J Rare Dis 17, 375 (2022). doi:10.1186/s13023-022-02525-0 

 Coordinated care, and a more holistic approach in the follow up of children with rare genetic disorders is needed. International collaboration on research, diagnostics, producing scientific correct and understandable information available for health care professionals and lay people should be prioritized.

Selection of Synthetic Proteins to Modulate the Human Frataxin Function

Pignataro MF, Herrera MG, Fernández N, Aran M, Gentili H, Bataglini F, Santos J.; Biotechnol Bioeng. 2022 Oct 12. doi: 10.1002/bit.28263. Epub ahead of print. PMID: 36225115. 

 Our results suggest quaternary addition may be a new tool to modulate frataxin function in vivo. Nevertheless, more functional experiments under physiological conditions should be carried out to evaluate Affi_224 effectiveness in FRDA cell models.

Reata Pharmaceuticals Announces that the FDA Does Not Plan to Hold an Advisory Committee Meeting to Discuss the NDA for Omaveloxolone for Friedreich’s Ataxia

October 13, 2022. PLANO, Texas--(BUSINESS WIRE)-- Reata Pharmaceuticals, Inc. (Nasdaq: RETA) (“Reata,” the “Company,” “our,” “us,” or “we”), a clinical-stage biopharmaceutical company, announced that the U.S. Food and Drug Administration (“FDA”) has informed the Company that it does not plan to hold an advisory committee meeting in connection with its review of the Company’s New Drug Application (“NDA”) for omaveloxolone for the treatment of patients with Friedreich’s ataxia.

Study to Evaluate Multiple Ascending Dose and Multi-Dose of DT-216 in Adult Patients With Friedreich Ataxia

ClinicalTrials.gov Identifier: NCT05573698. A Phase 1b, Randomized, Double-blind, Placebo-controlled, Multiple Ascending Dose and Multi-Dose Study of DT-216 in Adult Patients With Friedreich Ataxia. Recruitment Status : Recruiting

First Posted : October 10, 2022 

Sponsor: Design Therapeutics

SARS-CoV-2 in patients with Friedreich ataxia

Megan M. Shen, Layne N. Rodden, Kellie McIntyre, Adriana Arias, Victoria Profeta, Kimberly Schadt & David R. Lynch; J Neurol (2022). doi:10.1007/s00415-022-11419-x

On a broader scale, the pandemic’s effects on this cohort are likely more prominent not from infection itself but rather disruptions to physical activity and therapy services. Anecdotally, a substantial proportion of patients have perceived significant declines in global health resulting from these disruptions, consistent with previous reports [1]. Future investigation with an expanded cohort and updated vaccination data as novel SARS-CoV-2 variants emerge will continue to inform adaptations in care.