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 »
On September 25, 2020 the National Ataxia Foundation (NAF) and CureDRPLA organised the Externally-Led Patient Focus Drug Development (EL-PFDD) meeting. You can watch the recording here. The EL-PFDD meeting provided a unique opportunity for the United States’ Food and Drug Administration (FDA) to hear directly from patients, their families, caregivers, and patient advocacy organisations. This meeting focused on polyglutamine spinocerebellar ataxias …
Novartis Gene Therapies have announced an update on a gene therapy that they have been developing for Friedreich’s Ataxia (FA) called OAV401. Novartis Gene Therapies develops and commercialises gene therapies for rare genetic conditions, such as FA. They have announced that the US Food and Drug Administration (FDA), which is the drug regulatory body in the US, has granted Orphan Drug Designation for OAV401. Orphan Drug Designation is …
Update from Novartis Gene Therapies on treatment for FA Read More »
A new government strategy to improve the lives of people living with rare diseases, across the 4 nations of the United Kingdom, has now been launched. The UK Rare Disease Framework, following on from the previous Rare Disease Strategy, has been designed around the views and experiences of those living with rare diseases. The rare-disease community helped to identify 4 key priority areas to bring …
UK Rare Disease Framework launched to improve diagnosis and treatment of rare diseases Read More »
FARA’s campaign asks people affected by Friedreich’s ataxia to sign their open letter. The letter addresses the US regulator, FDA, and Reata pharmaceuticals. The letter requests Reata to submit a new drug application. It also asks the FDA to consider the approval of a new drug application for Omaveloxolone based on current evidence. Omaveloxolone is …
Recently, Ataxia UK had a meeting with representatives from Larimar Therapeutics, a clinical-stage biotechnology company focused on developing treatments for complex rare diseases, to discuss possible collaborations to help progress research on a potential treatment for Friedreich’s ataxia (FA). In December, Larimar announced the completion of dosing from its Phase 1 single ascending dose (SAD) …
FA drug clinical trial update: Larimar Therapeutics Read More »
In October 2019, Reata Pharmaceuticals announced positive top-line results from their MOXIe trial testing Omaveloxolone (or Omav) in Friedreich’s ataxia (FA). In the MOXIe trial, Reata used the modified Friedreich’s Ataxia Rating Scale (mFARS) to measure the symptoms of those taking Omav vs those taking placebo (a placebo is a substance that has no therapeutic …
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is caused by a genetic mutation in the ATXN3 gene. SCA3 is thought to be the most common SCA worldwide, and currently there is no effective treatment for the condition. Biomarkers are characteristics that can be measured, evaluated and used to indicate disease progression or …
