Swinburne researcher discovers broccoli extract could halt incurable neurological disorder

Newscorp Australia. May 19, 2026.

Associate Professor Faith Kwa leads the Drug Discovery for Chronic Diseases Laboratory at Swinburne University of Technology. Her research focuses on finding new treatments for Friedreich ataxia, a rare inherited genetic condition that currently has no cure. Friedreich ataxia affects around 260 people in Australia and can have devastating consequences.

The next step for Associate Professor Kwa’s team is to secure funding for a clinical trial. The trial would test sulforaphane in patients and determine the most effective doses for treating the condition. This critical clinical study could demonstrate that a compound derived from a common vegetable might help tackle one of the world’s rarest and most challenging diseases – showing that groundbreaking medical discoveries can begin in the most unexpected places. 

Crucially, SF can cross the blood–brain barrier, an advantage lacking in many drugs under investigation for neurodegenerative diseases like Friedreich ataxia (FRDA). FRDA is an inherited, incurable and debilitating condition caused by low levels of a protein known as frataxin. Our laboratory showed that clinically relevant doses of SF not only improve survival of spinal cord cells generated from stem cells taken from FRDA individuals but also increase frataxin levels. 

At approximately $5000 per patient per year, SF is more affordable than the only approved treatment, which costs hundreds of thousands of dollars annually. Sulforaphane exemplifies a future therapy that is sustainable, safe, and accessible to people.

New RESTORE-FA results show DT-216P2 improved balance and fatigue within 4 weeks, with tolerable safety.

NeurologyLive®. May 19, 2026. DT-216P2 Shows Dose-Dependent Frataxin Increases and Clinical Improvements After 4 Weeks of IV Dosing in Friedreich Ataxia.Design Therapeutics has reported positive 4-week biomarker and clinical data from the ongoing phase 1/2 RESTORE-FA clinical trial evaluating DT-216P2, an investigational small-molecule GeneTAC therapy designed to increase endogenous frataxin (FXN) expression by targeting the GAA trinucleotide repeat expansion in the FXN gene—the underlying genetic cause of Friedreich ataxia (FA). 

The data showed dose-dependent increases in FXN mRNA and protein alongside improvements across multiple clinical outcome measures in patients treated with weekly intravenous dosing over 4 weeks.We observed both dose-dependent increases in FXN levels and dose-dependent improvements across multiple clinical measures, including mFARS, upright stability score and patient-reported fatigue.

Based on these findings, we believe DT-216P2 has the potential to be a best-in-disease treatment for patients with FA and look forward to advancing the program toward registrational development.”

Design Therapeutics Announces Four-Week IV Data from the RESTORE-FA Trial of DT-216P2 Demonstrating Clinical Improvements and Comprehensive Biomarker Activity in Friedreich Ataxia

CARLSBAD, Calif., May 18, 2026 (GLOBE NEWSWIRE) -- Design Therapeutics, Inc. (Nasdaq: DSGN), a clinical-stage biotechnology company developing treatments for serious degenerative genetic diseases, today announced positive biomarker and clinical data from the ongoing Phase 1/2 RESTORE-FA trial evaluating DT-216P2 in patients with Friedreich ataxia (FA). DT-216P2 is a GeneTAC® small-molecule therapeutic candidate designed to increase frataxin (FXN) expression by targeting the GAA repeat expansion in the FXN gene, the genetic root cause of FA. 

Clinical Outcomes After four weeks of DT-216P2 treatment at the 1 mpk dose cohort, patients demonstrated mean improvements from baseline of 6.4 points in the modified Friedreich’s Ataxia Rating Scale (mFARS) and 2.7 points in the Upright Stability Score. Further, DT-216P2 demonstrated changes of greater than five points in patient-reported fatigue, as measured by the PROMIS Fatigue Scale, both at the end of four weeks of treatment and two weeks following the last dose. These data exceeded the three-point threshold generally considered to be a minimal important change in fatigue.

140 Gene therapy for Friedreich ataxia cardiomyopathy: safety and preliminary assessment of efficacy

2026 Annual Meeting of the American Society of Gene and Cell Therapy: ASGCT 2026 Annual Meeting Abstracts. Available online 8 May 2026, Version of Record 8 May 2026. 

140 Gene therapy for Friedreich ataxia cardiomyopathy: safety and preliminary assessment of efficacy; Ronald G. Crystal, Jonathan W. Weinsaft, Stephen M. Kaminsky, Anthony Caragiulo, Aarti Patel, Ralitza H. Gavrilova, Susan L. Perlman, Udhay Krishnan, Madeline Galbraith, Niamh Savage, Robert J. Kaner, Abraham Sanders, Mary Vo, Harini Sarva, Andrea Yoo, Dolan Sondhi, Bishnu P. De, Gregory Aubert, Aashir Khan, Nithya Selvan, Sandi See Tai, Narinder Bhalla, Eric Adler, Theresa Zesiewicz. 

This interim data suggests that a single intravenous administration of AAVrh.10hFXN to individuals with FA cardiomyopathy is generally safe and biologically active, increasing cardiac FXN expression, improving a key marker of cardiac structure, reducing a serum biomarker relevant to cardiomyocyte integrity and improving or stabilizing neurologic function.

69 Small‑Molecule–regulated RNA switch achieves therapeutically safe levels of Frataxin in mouse models of Friedreich’s Ataxia

2026 Annual Meeting of the American Society of Gene and Cell Therapy: ASGCT 2026 Annual Meeting Abstracts. Available online 8 May 2026, Version of Record 8 May 2026. 

 69 Small‑Molecule–regulated RNA switch achieves therapeutically safe levels of Frataxin in mouse models of Friedreich’s Ataxia. 69 Small‑Molecule–regulated RNA switch achieves therapeutically safe levels of Frataxin in mouse models of Friedreich’s Ataxia. Jon Dempersmier, Mariam Elhawary, Ian McLachlan, Hayley Ulloa, Kai Li, Diane Hamann, Zhiping Weng, Ricardo Mouro Pinto, Travis Wager, Simon Xi, Sam Hasson; 

Friedreich’s ataxia (FA) represents a compelling use case for regulated gene therapy. FA is an autosomal recessive disorder caused by repeat expansion–mediated silencing of the FXN gene, resulting in impaired iron–sulfur cluster biogenesis, mitochondrial dysfunction, neurodegeneration, and cardiomyopathy. While constitutive AAV-mediated FXN replacement has shown efficacy in preclinical models, excessive Frataxin expression has been associated with cardiotoxicity, highlighting the need for controlled dosing.

This system consists of DNA-encoded regulatory elements, termed RSwitches, which are selectively modulated by matched synthetic small molecules, or RDrugs, in a dose-dependent manner. RDrugs direct specific pre-mRNA splicing events required for productive transgene expression, enabling temporal control on the order of hours and quantitative control of protein output almost five orders of magnitude from AAV vectors.

62 Development and Translation of PPL-001, an autologous, gene-edited CD34+ hematopoietic stem cell Therapy for Friedreich’s Ataxia

2026 Annual Meeting of the American Society of Gene and Cell Therapy: ASGCT 2026 Annual Meeting Abstracts. Available online 8 May 2026, Version of Record 8 May 2026.  62 

Development and Translation of PPL-001, an autologous, gene-edited CD34+ hematopoietic stem cell Therapy for Friedreich’s Ataxia  Anusha Sivakumar, Colin Exline, Stephanie Cherqui.

 Here, we present a GMP-compliant, commercially/clinically scalable manufacturing process and safety data of PPL-001, aimed at initiating the first-in-human HSPC and genome editing clinical trial for FRDA. 

These promising results of scale-up feasibility and safety support our efforts in clinical translation of CRISPR/Cas9 gene edited CD34+ HSPCs as a novel treatment approach for Friedreich’s ataxia.

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

Simona Maccora, Umberto Quartetti, Salvatore Maria Lima, Nicasio Rini, Marco Cucchiara, Luisa Agnello, Caterina Maria Gambino, Filippo Brighina, Marcello Ciaccio, Vincenzo Di Stefano, Neurophysiological assessment of disease severity in Friedreich’s Ataxia: a study of brainstem auditory and visual evoked potentials, Clinical Neurophysiology, 2026, 2111933, ISSN 1388-2457, doi:10.1016/j.clinph.2026.2111933.

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.

Experimental gene therapy raises hope for children with fatal neurological disease

Brunel University of London. By Press Officen14 May 2026. 

Scientists at Brunel University of London and University College London Great Ormond Street Institute of Child Health have developed an experimental stem cell treatment for Friedreich’s ataxia.

The findings suggest the technique could eventually be delivered using a patient’s own cells, reducing the risk of the body rejecting the therapy after transplantation.The researchers removed blood-forming stem cells and modified them in the laboratory using a virus to deliver an engineered frataxin protein.  This new engineered version of frataxin can be secreted by blood cells and absorbed by other tissues, allowing it to reach vital organs such as the brain, heart and muscles.

Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich’s ataxia

Ibáñez-Cabellos, J.S., Baviera-Muñoz, R., Alemany-Perna, B. et al. Validation of circulating miR-323a-3p and miR-625-3p to classify hypertrophic cardiomyopathy in Friedreich’s ataxia. Sci Rep 16, 15056 (2026). doi:10.1038/s41598-026-50975-4 

 This study validates a genetic blood "signature" that assists clinicians in identifying patients with Friedreich's Ataxia (FRDA) who are developing cardiac or metabolic complications. 

The research explores the use of microRNAs as non-invasive biomarkers, aiming to identify blood indicators more accurate than current standards, such as troponin, for diagnosing hypertrophic cardiomyopathy and diabetes. 

 Notably, the combination of two specific microRNAs (miR-323a-3p and miR-625-3p) demonstrated a superior ability to classify and predict HCM, outperforming traditional protein biomarkers. 

Furthermore, the study confirmed that other microRNAs, such as miR-128-3p and miR-130b-5p, are significantly elevated in patients suffering from both ataxia and diabetes.

Pharmacological treatments for Friedreich ataxia ( Cochrane Database of Systematic Reviews 2026)

Lyons S, Kearney M, Fahey MC, Janjal P, Pandolfo M, Patton P. Pharmacological treatments for Friedreich ataxia. Cochrane Database of Systematic Reviews 2026, Issue 5. Art. No.: CD007791. DOI: 10.1002/14651858.CD007791.pub5. Accessed 12 May 2026.

In this updated Cochrane systematic review, meta‐analysis of results on the ataxia rating scale showed that pharmacological treatments probably make little or no difference compared with placebo after 12 months of treatment. Given this result, the probable improvement that we found in upper limb dexterity was unexpected. Treatment‐emergent adverse events leading to cessation of medication or death may be no more common in treatment groups than placebo groups as there were few adverse events detected in the treated groups. However, the studies may not have detected all rare and serious adverse events.