Stem Cell Transplantation in Friedreich Ataxia: Cure for Leukemia but No Effect on Neurological Progression

A. Gitman, N. Bhandari, M. Castellaro, K. Schadt, M. Cancio, and D. R. Lynch, “ Stem Cell Transplantation in Friedreich Ataxia: Cure for Leukemia but No Effect on Neurological Progression,” Annals of Clinical and Translational Neurology (2026): 1–3, doi:10.1002/acn3.70455. 

After the transplant, her neurologic disease progressed similarly to other patients, but her blood frataxin levels returned to normal and cardiac hypertrophy decreased. This shows that FRDA patients can be treated with bone marrow transplantation, but such treatment alone has no direct effect on progression of neurologic disease.

Adjuvia Therapeutics Closes $8 Million Series Seed Financing to Advance Novel Mitochondrial Disease Therapy into the Clinic

Jul 29, 2026. SAN FRANCISCO--(BUSINESS WIRE)--Adjuvia Therapeutics, a biotechnology company developing therapeutics to treat mitochondrial dysfunction and disease, today announced the closing of an $8 million Series Seed financing. The financing will support the submission of an Investigational New Drug (IND) application for Adjuvia's lead candidate, ATI-105, later this summer, followed by the initiation of the Phase 1 clinical trial in healthy volunteers in Fall 2026. Adjuvia also plans to begin a Phase 1/2 study in patients with Friedreich's ataxia in early 2027.

Goldenrod Therapeuticsare committed to developing a next-generation phosphodiesterase 4 (PDE4) inhibitor designed to address serious neurological conditions, including Friedreich’s ataxia

Goldenrod Therapeutics is a portfolio company of Fannin based in Houston, Texas. We are committed to developing a next-generation phosphodiesterase 4 (PDE4) inhibitor designed to address serious neurological conditions, including Friedreich’s ataxia, other neurodegenerative diseases, substance use disorders (SUDs), and pain. 

Neurophysiological assessment of disease severity in Friedreich’s Ataxia: a study of brainstem auditory and visual evoked potentials

Maccora S, Quartetti U, Lima SM, Rini N, Cucchiara M, Agnello L, Gambino CM, Brighina F, Ciaccio M, Di Stefano V. Neurophysiological assessment of disease severity in Friedreich's Ataxia: a study of brainstem auditory and visual evoked potentials. Clin Neurophysiol. 2026 Aug;188:2111933. doi: 10.1016/j.clinph.2026.2111933. Epub 2026 May 14. PMID: 42143837. 

 BAEPs and p-VEPs are highly prevalent and closely associated with clinical severity in chronic FRDA, outperforming tested serum biomarkers. Evoked potentials provide accessible, non-invasive, quantitative candidate biomarkers for severity assessment and longitudinal monitoring in FRDA, supporting their use in clinical practice and trial design when fluid markers are inconclusive.

Omaveloxolone Driven NRF2 Activation as a Novel Therapeutic Strategy for Pulmonary Hypertension

Omaveloxolone Driven NRF2 Activation as a Novel Therapeutic Strategy for Pulmonary Hypertension. Huang, Chuangjia, Bai, June, Luo, Ang, Yang, Lei, Wang, Xingting, Dang, Linlin, Bao, Changlei, Zhu, Jinsheng, Chen, Zixuan, Wu, Bitao, Long, Jintao, Feng, Jieyi, Luo, Zinan, Xiao, Yingying, Sun, Hanliang, Liang, Shuxin, Zhang, Li, Hua, Jing, Gou, Demin, Desai, Ankit A., Li, Li, Zhang, Caojin, Chu, Aiai, Tang, Haiyangdoi:10.1161/HYPERTENSIONAHA.126.26711 Published Online: 2026-07-27 

 NRF2 expression and nuclear localization were reduced in PH lungs and hypoxia-exposed cells, whereas Omaveloxolone restored NRF2 activity and increased downstream antioxidant enzymes. In endothelial cells, Omaveloxolone reduced oxidative stress, suppressed inflammatory signaling, and inhibited endothelial-to-mesenchymal transition. In smooth muscle cells, it attenuated oxidative stress and normalized abnormal proliferation, migration, and apoptosis. Omaveloxolone reduced HIF (hypoxia-inducible factor)-2α accumulation in endothelial cells and inhibited HIF-1α stabilization in smooth muscle cells. NRF2 knockdown attenuated these effects, supporting pathway dependency. Omaveloxolone attenuated PH, reduced right ventricular hypertrophy and vascular remodeling, and improved right ventricular function across hypoxia, monocrotaline, and sugen/hypoxia models under both preventive and therapeutic regimens.

Larimar Therapeutics Reports Positive Open Label Data and Submission of First Module of Rolling BLA for Accelerated Approval of Nomlabofusp for Friedreich’s Ataxia

June 29, 2026. BALA CYNWYD, Pa., June 29, 2026 (GLOBE NEWSWIRE) -- Larimar Therapeutics, Inc. (Larimar)  a clinical-stage biotechnology company focused on developing treatments for complex rare diseases, today announced it has submitted the first module of its rolling Biologics License Application (BLA) submission to the Food and Drug Administration (FDA) for accelerated approval of nomlabofusp. The OL study is evaluating the safety and tolerability, pharmacokinetics (PK), and frataxin (FXN) levels in skin and buccal cells, along with exploratory pharmacodynamic (PD) markers (lipid profiles and gene expression) and clinical outcomes following long-term subcutaneous administration of nomlabofusp. The OL study protocol has now been amended to include children 2-11 years of age, adolescents and adults who have not participated in a prior nomlabofusp study.

Characterizing Friedreich’s ataxia cardiomyopathy with serial cardiac magnetic resonance imagings

Cripe, L. H., Alvarado, C., Hayes, E. A., Krishnamurthy, R., Gunsaulus, M. E., Waldrop, M. A., & Nandi, D. (2026). Characterizing Friedreich’s ataxia cardiomyopathy with serial cardiac magnetic resonance imagings. Annals of Pediatric Cardiology, 19(4), 364–373. doi:10.4103/apc.apc_22_26 

In this exploratory study, CMR demonstrated patterns of septal hypertrophy, lateral wall fibrosis, and trends toward declining ventricular function. Findings were largely nonsignificant and should be considered hypothesis-generating. Larger, multicenter studies are needed to clarify the role of CMR in disease progression and clinical management.

Effects of Friedeich Ataxia on the Interrelations Between Left Ventricular Length and Long-Axis Systolic and Diastolic Excursions

R. Peverill, Effects of Friedeich Ataxia on the Interrelations Between Left Ventricular Length and Long-Axis Systolic and Diastolic Excursions, Heart, Lung and Circulation, Volume 35, Supplement 3, 2026, Page S142, doi:10.1016/j.hlc.2026.07.126. 

 Features of long-axis dysfunction in FRDA include: (i) a smaller contraction amplitude, which is partly attributable to a smaller LVEDL, and therefore has both structural and functional elements, (ii) smaller early diastolic excursion which is fully accounted for by smaller long-axis contraction, and (iii) lack of any compensatory increase in LA contraction, which is consistent with the presence of a concomitant LA myopathy.

Cardiomyocyte Dysfunction is Modulated by PCDHGA10 in Friedreich Ataxia,

J. Lees, H. Zhang, L. Jiao, A. Kong, R. Phang, L. Li, N. Su, A. Mukhtar, S. Bass-Stringer, A. Pébay, M. Dottori, L. Corben, M. Delatycki, R. Peverill, S. Wilcox, J. Choi, J. Pullin, D. McCarthy, J. Napierala, M. Napierala, S. Lim, Cardiomyocyte Dysfunction is Modulated by PCDHGA10 in Friedreich Ataxia, Heart, Lung and Circulation, Volume 35, Supplement 3, 2026, Pages S709-S710, doi:10.1016/j.hlc.2026.07.1148. 

Our human iPSC model captures early, clinically relevant features of FRDA cardiomyopathy and identifies PCDHGA10 as a disease-associated target within the γ-protocadherin family of calcium-dependent adhesion molecules. siRNA-mediated PCDHGA10 knockdown rescued cell survival, diastolic dysfunction, and mitochondrial ROS levels, implicating Ca2+-coupled and redox-linked phenotypes in cardiomyocyte dysfunction. These findings support further mechanistic study and therapeutic exploration of PCDHGA10

Design Therapeutics Provides RESTORE-FA Clinical Development Update and Reports Second Quarter 2026 Financial Results

CARLSBAD, Calif., Aug. 03, 2026 (GLOBE NEWSWIRE) -- Design Therapeutics, Inc..Positive 

RESTORE-FA Four-Week Data Support Advancement of DT-216P2. As reported in May 2026, DT-216P2 was generally well-tolerated and demonstrated dose-dependent increases in endogenous frataxin mRNA and protein levels, together with improvements across multiple clinical measures following four weeks of intravenous dosing in patients with Friedreich ataxia. 

Modifications to RESTORE-FA. Based on the four-week data, Design is modifying the ongoing cohorts in the RESTORE-FA trial to support the next stage of clinical development. The study will continue to evaluate 1 mpk as the planned go-forward dose, with the intention of enrolling 10 patients in the 12-week cohort. In addition, modifications include specifying endogenous blood FXN protein percent change from baseline as the primary efficacy endpoint and exploring a dose level above 1 mpk. 

Next Steps and Expected Milestones: Design expects to provide an update on its registrational plans in the fourth quarter of 2026, with data following 12 weeks of treatment expected in the first quarter of 2027.