Solid Biosciences Inc. Reports Progress in Clinical Trials and Financial Highlights for Q2 2025

Quiver Quantitative. Aug. 12, 2025

SGT-212 for Friedreich’s Ataxia (FA) The Company expects to initiate a first-in-human, open-label, Phase 1b clinical trial of SGT-212 in the fourth quarter of 2025. The trial is expected to enroll non-ambulatory and ambulatory adult participants living with FA in up to three cohorts and is designed to evaluate the safety and tolerability of systemic and bilateral IDN administration of SGT-212. 

SGT-212 is the first investigational gene therapy for FA to utilize a dual route of administration and is intended to promote restoration of therapeutic levels of the frataxin protein to address the neurologic, cardiac and systemic clinical manifestations of FA.

Manejo anestésico de tempestade tireoidiana em paciente com ataxia de Friederich. Relato de caso

Giovanna Calixto Rossi Marques de Souza, Laura Faleiros de Lima, Paula Ariane Toneli Reis. Archives of Health, Curitiba, v.6, n.4, special edition, p.01-06, 2025. ISSN 2675-4711 DOI:10.46919/archv6n4espec-15350 

Este artigo apresenta o relato de um caso clínico de paciente com ataxia de Friedreich submetido a procedimento de emergência em meio a uma crise tireotóxica, e realiza uma revisão sistemática da literatura sobre as condutas anestésicas mais adequadas. Utilizando as bases de dados SciELO, LILACS e BVS, foram selecionados artigos brasileiros dos últimos 15 anos que abordam tempestade tireoidiana, ataxia de Friedreich e anestesia. O objetivo foi avaliar abordagens seguras e eficazes na anestesia para pacientes com essas condições associadas. A análise dos dados revelou que o uso de agentes anestésicos cardioestáveis, o controle rigoroso do estado hemodinâmico e metabólico, e a vigilância contínua no pós-operatório são imprescindíveis. 

 

Clinical and cognitive assessment in Friedreich ataxia clinical trials: a review

Darriba Á, Munnich A, Cardoso-Leite P, Funalot B, Waszak F. Clinical and cognitive assessment in Friedreich ataxia clinical trials: a review. Front Neurol. 2025 May 22;16:1558493. doi: 10.3389/fneur.2025.1558493. PMID: 40488204; PMCID: PMC12142069.

We argue for the inclusion of cognitive and speech-related assessments in clinical trials, and examine the potential of developments in cognitive neuroscience and technology to address current measurement challenges and support more accurate and comprehensive evaluation of treatment effects. These innovations have the potential to complement existing approaches, enhance trial design, and advance clinical care.

Efficacy of Omaveloxolone Treatment for Dysphagia in French Patients With Friedreich's Ataxia

Conditions: Friedreich Ataxia Interventions: Drug: SKYCLARYS (omaveloxolone) Sponsors: Centre Hospitalier Universitaire de Nice 

Not yet recruiting 

Last Update Posted 2025-06-10 

This study aimed to comprehensively evaluate the effect of Omaveloxolone on dysphagia after six months of treatment, in a cohort of French patients with Friedreich's ataxia who benefited from early access to treatment between February 2024 and May 2025. The severity of dysphagia will be assessed using the Sydney Swallow Questionnaire (SSQ), completed by patients at baseline and after six months of Omaveloxolone treatment.

Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology

Rummey C, Thomas-Black G, Garcia-Moreno H, Lynch DR, Abeti R, Arisoy H, Heslegrave A, Zetterberg H, Giunti P; European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology. Mov Disord. 2025 Jun 11. doi: 10.1002/mds.30250. Epub ahead of print. PMID: 40498047. 

NfL is a sensitive biomarker in early FRDA but decreases with age, converging with control values after 35-40 years. This age-dependent pattern must be considered when interpreting the effect of interventions in clinical trials. Especially in younger (age < 10 years) or presymptomatic patients and control subjects, additional longitudinal sampling is warranted. Elevated tau levels suggest involvement in underlying disease pathophysiology.

Characteristics of Adverse Events and Clinical Risks of Omaveloxolone Based on FAERS Data

Liu H, Fan D, Tao H, Shen Z, Yao K. Characteristics of Adverse Events and Clinical Risks of Omaveloxolone Based on FAERS Data. Cerebellum. 2025 Jun 18;24(4):119. doi: 10.1007/s12311-025-01873-4. PMID: 40533692. 

This study aims to evaluate post-marketing adverse events (AEs) associated with its clinical use by analyzing data from the FDA Adverse Event Reporting System (FAERS). We collected all adverse reaction reports associated with omaveloxolone from the first quarter of 2023 (Q1 2023) to the fourth quarter of 2024 (Q4 2024) in the FAERS database and performed signal detection using four distinct pharmacovigilance methods: the Reporting Odds Ratio (ROR), Proportional Reporting Ratio (PRR), Bayesian Confidence Propagation Neural Network (BCPNN), and Empirical Bayesian Geometric Mean (EBGM).

Salutary Effects of Overexpression of Rsm22, an Assembly Factor for the Mitochondrial Ribosome, on Frataxin/Yfh1 Depletion Phenotypes in Saccharomyces cerevisiae

Pandey AK, Singh P, Pain J, Dancis A, Pain D. Salutary Effects of Overexpression of Rsm22, an Assembly Factor for the Mitochondrial Ribosome, on Frataxin/Yfh1 Depletion Phenotypes in Saccharomyces cerevisiae. Biomolecules. 2025 May 28;15(6):785. doi: 10.3390/biom15060785. PMID: 40563426; PMCID: PMC12191369. 

Here, we describe frataxin/Yfh1 bypass by overexpression of Rsm22, an assembly factor for the mitochondrial ribosome. Rsm22 overexpression in Yfh1-depleted yeast cells restored critical processes in mitochondria, including Fe-S cluster assembly, lipoic acid synthesis, iron homeostasis, and heme synthesis, to a significant extent. Formation of cytoplasmic Fe-S proteins was also restored, suggesting recovery of the mitochondrial ability to generate the (Fe-S)int intermediate that is exported from mitochondria and is utilized for cytoplasmic Fe-S cluster assembly. Importantly, an essential component of the mitochondrial iron-sulfur cluster machinery, namely ferredoxin, was virtually absent in mitochondria lacking Yfh1, but it was recovered with Rsm22 overexpression. Interestingly, ferredoxin overexpression could offset some of the effects of Yfh1 depletion. Ferredoxin has recently been shown to bind to the cysteine desulfurase protein Nfs1 at the same site as Yfh1, in a conserved arginine patch on Nfs1, such that ferredoxin binding at this site may confer frataxin-bypass activity.

Friedreich's ataxia: A case series, literature review, and recommendations for pregnancy

Dakin A, Bogdanova-Mihaylova P, Walsh RA, Murphy SM, Ward D, Maher N, McCarthy CM. Friedreich's ataxia: A case series, literature review, and recommendations for pregnancy. Int J Gynaecol Obstet. 2025 Jul 13. doi: 10.1002/ijgo.70361. Epub ahead of print. PMID: 40653762. 

Pregnancies complicated by chronic health conditions, such as FRDA, can pose clinical, logistical, and organizational challenges to optimize management and outcomes. We delineate the management challenges posed in the management of the largest Irish case series of pregnant patients with FRDA and extrapolate recommendations that can be applied to clinical practice through a literature review.

The Use of Assistive Gait Devices Can Reduce the Risk of Falls in Patients With Neuromuscular Diseases Following a Training Period.

Conditions: Inclusion Body Myositis; Myotonic Dystrophy 1; Myotonic Dystrophy 2; Facio-Scapulo-Humeral Dystrophy; Limb Girdle Muscular Dystrophies; Pompe Disease (Infantile-Onset); Myasthaenia Gravis; Lambert Eaton (LEMS); Spinal Muscular Atrophy (SMA); Guillain Barré Syndrome; Chronic Inflammatory Demyelinating Polyneuropathy; Friedreich Ataxia; Hereditary Motor and Sensory Neuropathies Interventions: Device: Assistive gait devices combined with physiotherapy Sponsors: LMU Klinikum 

Enrolling by invitation 

Last Update Posted 2025-07-18

The planned project is an intervention study to assess the risk of falling after adaptation of an assistive gait devices in patients with the following neuromuscular diseases: Inclusion body myositis, myotonic dystrophy, limb girdle and facioscapulohumeral muscular dystrophies, Pompe disease, Lambert-Eaton syndrome, myasthenia gravis, spinal muscular atrophy, Guillain-Barré syndrome, chronic inflammatory demyelinating polyradiculoneuropathy, Friedreich's ataxia and hereditary motor and sensory neuropathy

STRUCTURAL VALIDITY AND INTER-RATER RELIABILITY OF THE ATAXIA TRUNK, LOWER AND UPPER EXTREMITY SCALE (ATLAS) (ATLAS ReVA)

Conditions: Ataxia, Cerebellar; Ataxia, Gait; Ataxia, Motor; Ataxia; Ataxia, Spinocerebellar; Ataxias, Hereditary; Ataxia - Other Interventions: Other: New Scale to evaluate ataxia motor symptoms Sponsors: Haute Ecole de Santé Vaud 

Not yet recruiting 

Last Update Posted 2025-07-23

Ataxia is a neurological disorder affecting coordination, caused by damage to the cerebellum, brainstem, or related pathways. It can be hereditary (e.g., Friedreich's ataxia) or acquired (e.g., multiple sclerosis, stroke). Though rare, ataxia significantly impacts quality of life and independence. Treatments are limited and mainly focus on multidisciplinary rehabilitation. Accurate assessment is essential, yet current tools like Scale for the Assessment and Rating of Ataxia (SARA) have limitations. This study aims to validate a new scale, named the Ataxia Trunk, Lower And upper extremity Scale (ATLAS), through Rasch analysis, to develop a shorter, reliable version. It will assess internal consistency, construct validity, and inter-rater reliability