California grants $7.4 million to advance gene-edited stem cell therapy for Friedreich’ s ataxia

Gen 13, 2026. The California Institute for Regenerative Medicine (CIRM) has awarded $7.4 million to support a University of California San Diego team developing a first-of-its-kind stem cell-based gene therapy for Friedreich’s ataxia, a rare inherited neurodegenerative disease that causes progressive loss of coordination, muscle strength, heart function and overall mobility. The new funding will help the research team complete the final steps required by federal regulators before they can apply to begin a first-in-human clinical trial.

Orphan Drug Designation for SGT-212 Dual-Route Gene Therapy for the Treatment of Friedreich’s Ataxia

CHARLESTOWN, Mass., Jan. 12, 2026 (GLOBE NEWSWIRE) -- Solid Biosciences Inc. today announced that U.S. Food and Drug Administration (FDA) has granted Orphan Drug designation to SGT-212 for the treatment of Friedreich’s ataxia (FA). Additionally, earlier today, the Company reported that the first participant has been dosed in FALCON, a Phase 1b, first-in-human clinical trial evaluating SGT-212 for the treatment of FA.

Participant in First-in-Class Phase 1b FALCON Trial Evaluating SGT-212 Dual-Route Gene Therapy for the Treatment of Friedreich’s Ataxia

CHARLESTOWN, Mass., Jan. 12, 2026 (GLOBE NEWSWIRE) -- Solid Biosciences Inc. today announced that the first participant has been dosed in FALCON, the Company’s Phase 1b, first-in-human clinical trial evaluating SGT-212, its investigational gene therapy for the treatment of Friedreich’s ataxia (FA).

FALCON is a first-in-human, open-label, multi-center Phase 1b clinical trial designed to evaluate the safety and tolerability of SGT-212 in participants aged 18-40 who have been diagnosed with FA and cardiac hypertrophy. FALCON is being conducted in the United States.

SGT-212 is a recombinant AAV-based gene replacement therapy for Friedreich’s ataxia (FA) designed to deliver full-length human frataxin (FXN) via a dual route of administration: intradentate nucleus (IDN) infusion, using an FDA-approved neurosurgical device in a stereotactic, precision MRI-guided technique, followed by an intravenous (IV) infusion, with the intent to increase therapeutic FXN levels in the cerebellar dentate nuclei, cardiomyocytes and other systemic tissues. Targeted delivery to the dentate nuclei will be confirmed in real time via MRI. Restoration of FXN levels is expected to repair the underlying mitochondrial dysfunction in neurons and cardiomyocytes to address neurologic, cardiac and systemic manifestations of the disease.

Biogen Advances New SKYCLARYS Formulation in Early Trial, Supporting Long-Term Rare Disease Strategy

TipRanks Clinical-Trials-Auto-Generated Newsdesk, Jan 09, 2026.

Study Overview This Phase 1 Biogen study, officially titled “A Phase 1, Randomized, Open-Label, Single-Dose, Crossover, Bioequivalence Study of Omaveloxolone Tablets for Oral Suspension Versus Capsules in Healthy Adult Participants,” aims to see whether a new tablet-for-suspension form of BIIB141 (omaveloxolone/SKYCLARYS) behaves in the body the same way as the current capsule. The focus is on how the drug is absorbed and processed in healthy adults, and on basic safety signals. The work matters because an easier-to-take form could broaden use in Friedreich’s ataxia and support longer-term revenue durability for Biogen. Study Design This is an interventional, Phase 1, randomized, open-label, two-period crossover study in healthy volunteers. All participants receive both forms of the drug in different orders, with a washout period between doses. There is no placebo and no blinding. The main purpose is treatment-focused bioequivalence: to compare how much drug gets into the bloodstream and how fast, and to confirm that both forms perform similarly while monitoring basic safety and tolerability.

Insights into DNA repeat expansions among 900,000 biobank participants

Hujoel, M.L.A., Handsaker, R.E., Tang, D. et al. Insights into DNA repeat expansions among 900,000 biobank participants. Nature (2026). doi:10.1038/s41586-025-09886-z 

 Expansions and contractions of tandem DNA repeats generate genetic variation in human populations and in human tissues. Some expanded repeats cause inherited disorders and some are also somatically unstable. Here we analysed DNA sequencing data from over 900,000 participants in the UK Biobank and the All of Us Research Program using computational approaches to recognize, measure and learn from DNA-repeat instability.

Pathological frataxin deficiency in mice causes tissue-specific alterations in iron homeostasis

Pazos-Gil, M., Medina-Carbonero, M., Sanz-Alcázar, A., Portillo-Carrasquer,M., Oliveira-Jorge, L., Hernández, G., Sánchez, M., Delaspre, F., Cabiscol, E., Ros, J., Tamarit, J.,Pathological frataxin deficiency in mice causes tissue-specific alterations in iron homeostasis, iScience(2026), doi: doi:10.1016/j.isci.2025.11462 

Our results reveal tissue-specific alterations of Iron Regulatory Proteins. In the heart, IRP2 accumulation is observed, likely triggered by iron-sulfur deficiency, while IRP1 is decreased in the cerebellum and liver. We also found elevated iron levels in mutant mice. Accumulation was particularly pronounced in the cerebellum, where increases were already evident at 10 weeks. Hepatic accumulation was not manifested until 21 weeks and was more pronounced in females. Overall, these findings indicate that frataxin deficiency disrupts iron homeostasis in a tissue-, age-, and sex- dependent manner, and provide novel insights into the mechanisms causing these perturbations.

Microgliopathy as a primary mediator of neuronal death in models of Friedreich's Ataxia

Pernaci C, Johnson A, Gillette S, Warden AS, McCormick C, Weiser-Novak S, Ramirez G, Broersma EH, Mishra P, Sivakumar A, Cherqui S, Coufal NG. Microgliopathy as a primary mediator of neuronal death in models of Friedreich's Ataxia. Nat Commun. 2025 Nov 29;17(1):81. doi: 10.1038/s41467-025-66710-y. PMID: 41318543; PMCID: PMC12770375. 

 In a murine xenograft model, transplanted human FRDA microglia accumulate in white matter and the Purkinje cell layer, resulting in Purkinje neuron loss in otherwise healthy brains. Notably, CRISPR/Cas9-mediated correction of the GAA repeat reverses microglial defects and mitigates neurodegeneration. Here, we suggest that microglial dysfunction serve as a disease driver and a promising therapeutic target in FRDA.

Nanobodies as tools for studying human frataxin biology

Pignataro, M.F., Fernández, N.B., Garay-Alvarez, A. et al. Nanobodies as tools for studying human frataxin biology. Commun Biol (2026). doi:10.1038/s42003-025-09458-x 

As a whole, our results suggest that nanobodies can serve as binding partners for mitochondrial FXN. However, the specific effect of the nanobodies on the conformational stability of FRDA-related FXN variants in cells should be investigated.

Ataxia with hypertonia and absent deep tendon reflexes (DTRs)

Maddela, Chakradhar. (2026). Ataxia with hypertonia and absent deep tendon reflexes (DTRs) -DD. 10.13140/RG.2.2.12440.66562. 

It is an important localization clue-suggesting central cerebellar involvement with concomitant peripheral neuropathy or dorsal root involvement. Pathophysiologic Pattern • Ataxia → Cerebellar dysfunction • Hypertonia → Central (UMN / extrapyramidal) involvement • Absent DTRs → Peripheral neuropathy / dorsal root ganglion involvement Combined central + peripheral nervous system disease Common & Important Causes 1. Friedreich Ataxia (MOST COMMON) • Onset: 5-15 years • Progressive gait and limb ataxia • Absent DTRs (early) • Extensor plantar, increasing tone later • Sensory loss (proprioception, vibration) • Associated: cardiomyopathy, scoliosis, diabetes • Mechanism: Spinocerebellar + posterior column + peripheral nerve degeneration 2. Ataxia-Telangiectasia (Late Stage) • Early hypotonia → later rigidity / hypertonia • Peripheral neuropathy → absent reflexes • Oculocutaneous telangiectasia • Recurrent sinopulmonary infections • Raised AFP

Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study

Grobe-Einsler M, Borel S, Buchholz M, Sayah S, Hilab R, Pierron L, Iskandar A, Humphries B, Ewenczyk C, Heinzmann A, Atencio M, Feldmann K, Maas V, Faber J, Boesch S, Indelicato E, Reetz K, Schulz JB, Bischoff AT, Klopstock T, Schöls L, Minnerop M, Timmann D, Davies EH, Klockgether T, Durr A, Xie F, Michalowsky B. Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study. Lancet Reg Health Eur. 2025 Dec 11;61:101552. doi: 10.1016/j.lanepe.2025.101552. PMID: 41488489; PMCID: PMC12756708. 

One hundred one patients (mean [SD]: age 35.0 [11.5]; GAA-repeat size 657 [299]; 50.5% women) were included. Activities of daily living, HRQoL, communication disabilities, and informal care utilization worsened significantly across disability stages with moderate to high effect sizes. Cognitive-affective impairments and mental well-being showed significant associations with small effect sizes. Twenty-three patients (33.3%) received formal care, while 40 (58.0%) received informal care (mean 12.2 h/week). Omaveloxolone was used by 33 patients (32.7%). Annual healthcare costs excluding Omaveloxolone were €13,620 (payer) and €32,679 (societal perspective, including informal care and productivity losses).