The Ataxia Magazine Issue 215 reported on a new paper on Friedreich’s ataxia (FA) from the team led by Professor Paola Giunti at the London Ataxia Centre, which has been recently published: https://www.mdpi.com/1422-0067/22/14/7507. Genes are made of a chain of components, identified by a letter (A, T, C or G). In FA, the FXN gene …
Spinocerebellar ataxias (SCAs) are a group of rare, progressive hereditary genetic disorders that affects the cerebellum, brain stem and spinal cord. Currently, more than 30 types of SCAs have been identified. SCAs are caused by genetic mutations, which lead to faulty proteins being produced. This causes the degeneration of different populations of neurons, depending on the type of SCA. For more information about different SCAs, please …
In their Ataxia UK-funded research project, Dr Mariana Santos Moreda Graça and her team at the Institute for Molecular and Cell Biology (IBMC, Portugal) developed new cell models to help understand TTBK2 mutations and Spinocerebellar Ataxia Type 11 (SCA11). SCA11 is a rare type of hereditary cerebellar ataxia with autosomal dominant inheritance (i.e. patients only …
Ataxia UK-funded project develops new TTBK2 cell models Read More »
In the clinic, assessment of cerebellar ataxias has been largely confined to clinical rating scales (e.g. Scale for Assessment and Rating of Ataxia -SARA-), gait laboratories, imaging of the brain, and collection of biosamples. However, all these measures do not take into consideration the patients’ experience of the condition or its change over time. Patient …
Development and Validation of a Patient-Reported Questionnaire of Ataxia Progression Read More »
Larimar Therapeutics is a clinical-stage biotechnology company focused on developing treatments for complex rare diseases, such as Friedreich’s ataxia (FA). Previously, we reported that Larimar Therapeutics were evaluating the FA drug CTI-1601 in a Phase 1 multiple ascending dose clinical trial (https://www.ataxia.org.uk/research-news/larimar-therapeutics/). FA is caused by a fault in the frataxin gene, which means that lower levels of frataxin are produced. CTI-1601 is …
Update: 30/09/2021 Reata Pharmaceuticals announced that it has completed its pre-New Drug Application (pre-NDA) meeting with the United States Food and Drug Administration (FDA) for omaveloxolone for the treatment of patients with Friedreich’s ataxia (FA) and reaffirmed its plan to submit an NDA in the first quarter of 2022. The purpose of the pre-NDA meeting …
A new paper from the team at the London Ataxia Centre provides new information on symptoms of the lower urinary tract (LUT) and the bowel in people with spinocerebellar ataxias (SCAs). The lower urinary tract consists of the bladder and the urethra (the tube carrying urine from the bladder to outside the body). The objective of this research was to evaluate the prevalence of LUT …
Ataxia UK, along with Ataxia Global Initiative and National Ataxia Foundation, recently partnered with Critical Path Institute (C-Path) for the launch of their Critical Path to Therapeutics for the Ataxias (CPTA) Consortium. CPTA is a public-private partnership focused on accelerating the development of treatments for inherited Ataxias. The work of the Consortium will focus on …
Ataxia UK and the US Foundation CureDRPLA are the lead organisations of the CureDRPLA Global Patient Registry. This Registry aims to collect data on as many Dentatorubral-pallidoluysian atrophy (DRPLA) patients as possible. The Registry collects patient-reported data on individuals affected with DRPLA once a year to understand how the condition changes over time. Having a …
The International Neuromodulation Society defines therapeutic neuromodulation as “the alteration of nerve activity through targeted delivery of a stimulus, such as electrical stimulation or chemical agents, to specific neurological sites in the body.” An example of neuromodulation therapy is deep brain stimulation (DBS). DBS is a neurosurgical technique, that requires the implantation of electrodes into specific areas in the …
Neuromodulation of the cerebellum rescues movement in a mouse model of ataxia Read More »
