Anodal Cerebellar Transcranial Direct Current Stimulation Reduces Motor and Cognitive Symptoms in Friedreich's Ataxia: A Randomized, Sham-Controlled Trial

Naeije, G., Rovai, A., Destrebecq, V., Trotta, N. and De Tiège, X. (2023), Anodal Cerebellar Transcranial Direct Current Stimulation Reduces Motor and Cognitive Symptoms in Friedreich's Ataxia: A Randomized, Sham-Controlled Trial. Mov Disord. doi:10.1002/mds.29453 

 One week of treatment with anodal ctDCS reduces motor and cognitive symptoms in individuals with FRDA, likely by restoring the neocortical inhibition normally exerted by cerebellar structures. This study provides class I evidence that ctDCS stimulation is effective and safe in FRDA

LEXEO Therapeutics Announces Completion of First Cohort and Dosing in Second Cohort in SUNRISE-FA, a Phase 1/2 Clinical Trial of LX2006 for the Treatment of Friedreich’s Ataxia Cardiomyopathy

NEW YORK, June 13, 2023 (GLOBE NEWSWIRE) -- LEXEO Therapeutics (LEXEO), a clinical-stage gene therapy company advancing adeno-associated virus (AAV)-based gene therapy candidates for genetically defined cardiovascular diseases and a genetically defined sub-group of Alzheimer’s disease, announced today the completion of the first dose cohort and the dosing of the first patient in the second dose cohort in SUNRISE-FA, a Phase 1/2 clinical trial of LX2006 in patients with Friedreich’s ataxia (FA) cardiomyopathy. In the first dose cohort, LX2006 has been well tolerated with no unexpected events or toxicities observed. Following the Data Safety Monitoring Board recommendation to proceed, investigators have initiated dosing in the second cohort.

A Retrospective Claims Analysis Characterizing Health Care Resource Use Among Patients with Friedreich Ataxia in the United States,

C. Qian, D. Lynch, L. Powell, A. Salvucci, G. Vasco, K.M Johnston, I. Tomazos, A Retrospective Claims Analysis Characterizing Health Care Resource Use Among Patients with Friedreich Ataxia in the United States, Value in Health, Volume 26, Issue 6, Supplement, 2023, Page S385, doi:10.1016/j.jval.2023.03.2157.

Patients with FA have significantly higher rates of HCRU, when compared to non-FA. This study demonstrates the multidisciplinary care required for this complex disease. Currently there are no disease modifying treatments for FA – these findings can help better estimate the impact of new interventions on the healthcare system.

The Clinical Burden of Friedreich Ataxia: A Retrospective Claims Analysis in the United States

L. Powell, D. Lynch, C. Qian, A. Salvucci, G. Vasco, K.M Johnston, I. Tomazos, The Clinical Burden of Friedreich Ataxia: A Retrospective Claims Analysis in the United States, Value in Health, Volume 26, Issue 6, Supplement, 2023, Page S379, doi:10.1016/j.jval.2023.03.2128. 

 Patients with FA in comparison to non-FA, experience significant clinical manifestations and comorbidities. This study provides real-world estimates of this disease burden, for commercially insured patients with FA in the US, underlying the unmet medical need in this population.

Adult-Onset Neuroepidemiology in Finland: Lessons to Learn and Work to Do

Sipilä, J.O.T. Adult-Onset Neuroepidemiology in Finland: Lessons to Learn and Work to Do. J. Clin. Med. 2023, 12, 3972. doi:10.3390/jcm12123972 

 Jokela type (SMAJ) and adult-onset dystonia. On the other hand, some disorders, such as Friedreich’s ataxia (FRDA) and Wilson’s disease (WD), are almost absent or completely absent in the population.

Jackson Laboratory receives $22.8 million grant for gene-editing based work

Published: Jun. 10, 2023​. BAR HARBOR, Maine (WABI) - Researchers aiming to develop and validate new gene-editing based therapeutic approaches have gotten a substantial financial investment.

The work being done revolves around four different neurological conditions including Spinal Muscular Atrophy, Friedreich’s Ataxia, Huntington’s Disease and Rett Syndrome.

Pharmacists are initiators in palliative care for patients with rare diseases

Dooms, M. Pharmacists are initiators in palliative care for patients with rare diseases. Orphanet J Rare Dis 18, 141 (2023). doi:10.1186/s13023-023-02765-8 

 A community pharmacist can play a key role in advocating timely access to palliative care. Medication reconciliation must alert them to start communicating with the patient and/or his relatives about refocusing treatment and care as part of palliative and terminal care. Pharmaceutical activities for these patients include dispensing of devices and medicinal products, compounding personalized medication and participating as a member of the Palliative Support Team. Most of the several thousands of rare diseases are caused by genetic defects and up to now have no cure and a late diagnosis.

Targeting Ion Channels and Purkinje Neuron Intrinsic Membrane Excitability as a Therapeutic Strategy for Cerebellar Ataxia

Huang H, Shakkottai VG. Targeting Ion Channels and Purkinje Neuron Intrinsic Membrane Excitability as a Therapeutic Strategy for Cerebellar Ataxia. Life. 2023; 13(6):1350. doi:10.3390/life13061350 

 In degenerative neurological disorders such as Parkinson’s disease, a convergence of widely varying insults results in a loss of dopaminergic neurons and, thus, the motor symptoms of the disease. Dopamine replacement therapy with agents such as levodopa is a mainstay of therapy. Cerebellar ataxias, a heterogeneous group of currently untreatable conditions, have not been identified to have a shared physiology that is a target of therapy. In this review, we propose that perturbations in cerebellar Purkinje neuron intrinsic membrane excitability, a result of ion channel dysregulation, is a common pathophysiologic mechanism that drives motor impairment and vulnerability to degeneration in cerebellar ataxias of widely differing genetic etiologies. We further propose that treatments aimed at restoring Purkinje neuron intrinsic membrane excitability have the potential to be a shared therapy in cerebellar ataxia akin to levodopa for Parkinson’s disease.

Randomized controlled trial data for successful new drug application for rare diseases in the United States

Kubota, Y., Narukawa, M. Randomized controlled trial data for successful new drug application for rare diseases in the United States. Orphanet J Rare Dis 18, 89 (2023). doi:10.1186/s13023-023-02702-9 

 This study focused on 233 drugs with orphan drug designations approved in the US between April 2001 and March 2021. Univariable and multivariable logistic regression analyses were conducted to investigate the association between the presence or absence of RCTs in the clinical data package for new drug applications.

Ataxia de Friedreich, revisión y actualización de la literatura con búsqueda sistemática de casos en Latinoamérica

Alfaro-Olivera M, Calle-Nuñez A, Uribe-León A, Aguirre-Quispe W, Sarapura-Castro E, Cornejo-Olivas M. Ataxia de Friedreich, revisión y actualización de la literatura con búsqueda sistemática de casos en Latinoamérica. Revista de Neuro-Psiquiatría [Internet]. 27abr.2023 [citado 7jun.2023];86(1):45-1. Available from: https://revistas.upch.edu.pe/index.php/RNP/article/view/4466 

 La prevalencia de AF en poblaciones caucásicas es estimada entre 2 y 5 casos por 100 000 habitantes. En Latinoamérica se han publicado 35 estudios que reúnen 1481 casos en 6 países.