Correction to Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study)

Lynch D. Correction to Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study). Ann Neurol. 2023 Oct 5. doi: 10.1002/ana.26808. Epub ahead of print. Erratum for: Ann Neurol. 2021 Feb;89(2):212-225. PMID: 37795909.

 In the Results section, the text should read: “Within the mFARS assessment, omaveloxolone improved each component (bulbar, upper limb coordination, lower limb coordination, and upright stability) relative to placebo, although the greatest effects were on upper limb coordination, followed by upright stability.

Disease Delineation for Multiple Sclerosis, Friedreich Ataxia, and Healthy Controls Using Supervised Machine Learning on Speech Acoustics

Schultz BG, Joukhader Z, Nattala U, et al. Disease Delineation for Multiple Sclerosis, Friedreich Ataxia, and Healthy Controls Using Supervised Machine Learning on Speech Acoustics. IEEE Transactions on Neural Systems and Rehabilitation Engineering : a Publication of the IEEE Engineering in Medicine and Biology Society. 2023 Oct;PP. DOI: 10.1109/tnsre.2023.3321874. PMID: 37792655.

 Results showed that Friedreich ataxia, multiple sclerosis and healthy controls were all identified with high accuracy (over 82%). Twenty-one acoustic features were strong markers of neurodegenerative diseases, falling under the categories of spectral qualia, spectral power, and speech rate. We demonstrated that speech markers can delineate neurodegenerative diseases and distinguish healthy speech from pathological speech with high accuracy.

Vestibular Pathology as Early Finding of Friedreich’s Ataxia in a 16 Years Old Woman

Fernández, A.G. Vestibular Pathology as Early Finding of Friedreich’s Ataxia in a 16 Years Old Woman. Indian J Otolaryngol Head Neck Surg (2023). doi:10.1007/s12070-023-04249-4 

Friedreich’s ataxia is degenerative disease frequently starting around puberty and it’s characterized by a progressive gait ataxia, limb weakness, apparition of Babinsky sign, loss of deep tendon reflex, dysarthria and skeletal deformities. The development of vestibular pathology is common but not completely understood. A 16 years old woman with early vestibular defects in relation to a latter Friedreich’s ataxia diagnosis is reported.

Social cognition in degenerative cerebellar ataxias

Simona Karamazovova, Veronika Matuskova, Natalie Svecova, Martin Vyhnalek, Social cognition in degenerative cerebellar ataxias, Current Opinion in Behavioral Sciences, Volume 54, 2023, 101313, doi:10.1016/j.cobeha.2023.101313.

Social cognition (SC) refers to a set of skills necessary for successful social communication and interpersonal relationships. Accumulating evidence points toward a crucial role of the cerebellum in SC. This narrative review summarizes and discusses the social cognitive impairment in cerebellar ataxias (CA), a group of hereditary neurodegenerative diseases of the cerebellum. Substantial impairment in emotion recognition and theory of mind, two essential components of SC, is present in CA. The social cognitive impairment is largely independent of the motor disability, general cognitive deficit, or neuropsychiatric symptoms. Since the impairment reaches comparable levels to autism or schizophrenia, it can substantially impact patients’ quality of life and deserves further attention in future research.

FDA Clears Exploration Trial for Higher Dose of CTI-1601 for Friedreich Ataxia

October 2, 2023. After the company released positive phase 2 data earlier this year, Larimar Therapeutics announced that the FDA has cleared a 4-week, placebo-controlled exploration trial (NCT05579691) assessing its investigational Friedrich ataxia (FA) agent CTI-1601 in doses of 50 mg. The company’s open-label extension (OLE), which will assess 25 mg of CTI-1601 daily, was also cleared for initiation by the FDA.

The OLE, expected to begin in Q1 2024, will include those who completed treatment in the phase 2 dose exploration trial or a prior trial of CTI-1601. In the OLE, investigators will assess safety, tolerability, and pharmacokinetics of the agent, as well as measures of frataxin (FXN) levels and other pharmacodynamic markers. Other objectives include the evaluation of the effects of long-term subcutaneous administration of CTI-1601 on measures of clinical function. Data from the OLE will be compared with a matched set of untreated patients from the Friedreich’s Ataxia Clinical Outcome Measures Study (FACOMS) database.

Neurologic orphan diseases: Emerging innovations and role for genetic treatments

Kioutchoukova IP, Foster DT, Thakkar RN, Foreman MA, Burgess BJ, Toms RM, Molina Valero EE, Lucke-Wold B. Neurologic orphan diseases: Emerging innovations and role for genetic treatments. World J Exp Med 2023; 13(4): 59-74  doi: 10.5493/wjem.v13.i4.59

 Emerging innovations and the role of genetic treatments open a new window of opportunity for the treatment of neurologic orphan diseases.

Benefits of Adaptive Sport on Physical and Mental Quality of Life in People with Physical Disabilities: A Meta-Analysis

Isidoro-Cabañas E, Soto-Rodríguez F, Morales-Rodríguez F, Pérez-Mármol J. Benefits of Adaptive Sport on Physical and Mental Quality of Life in People with Physical Disabilities: A Meta-Analysis; Healthcare (Basel, Switzerland). 2023 Sep;11(18). PMCID: PMC10531072. doi:10.3390/healthcare11182480 

The engagement in adaptive sports showed a positive impact on the mental quality of life among adults with physical disabilities. However, the positive effect of adaptive sports practice on physical quality of life was shown only in the pre–post-test analysis. Further studies are required to validate the obtained findings.

Comparison of Live and Remote Video Ratings of the Scale for Assessment and Rating of Ataxia

Taheri Amin A, Faber J, Önder D, et al. Comparison of Live and Remote Video Ratings of the Scale for Assessment and Rating of Ataxia; Movement Disorders Clinical Practice. 2023 Aug;10(9):1404-1407. PMCID: PMC10525045. DOI: 10.1002/mdc3.13843 

Live and remote video ratings showed a high level of agreement for the complete score (bias = 0.09, with standard deviation = 2.00) and all single SARA items (bias<0.20 for all items).

Conclusion: Remote video ratings of SARA are a reliable means to assess severity of ataxia.

Pre-Validation of a Virtual Reality Tool to Quantify the Severity of Friedreich's Ataxia

K. Chenier, A. Duquette, L. Touma, M. T. Le and D. R. Labbe, "Pre-Validation of a Virtual Reality Tool to Quantify the Severity of Friedreich's Ataxia," 2023 IEEE 11th International Conference on Serious Games and Applications for Health (SeGAH), Athens, Greece, 2023, pp. 1-7, doi: 10.1109/SeGAH57547.2023.10253802.

 The results of this study demonstrate the feasibility of using VR with FA patients, although adaptation of the technology may be necessary for those with more severe impairments.

CRISPR/Cas9-Based Edition of Frataxin Gene in Dictyostelium discoideum

Hernan Gustavo Gentili, María Florencia Pignataro, Justo Facundo Olmos, María Florencia Paván, Lorena Itatí Ibáñez, Javier Santos, Francisco Velazquez Duarte; CRISPR/Cas9-Based Edition of Frataxin Gene in Dictyostelium discoideum. Biochem J 2023; BCJ20230244. doi:10.1042/BCJ20230244 

The results of the study suggest that this new D. discoideum strain offers a wide range of possibilities to easily explore diverse FA FXN variants. This can facilitate the development of straightforward drug screenings to look for new therapeutic strategies.