ESMI

• Research type

  Research Study

• Full title

  European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative

• IRAS ID

  216057

• Contact name

  Paola Giunti

• Contact email

  p.giunti@ucl.ac.uk

• Sponsor organisation

  University College London

• Duration of Study in the UK

  3 years, 0 months, 0 days

• Research summary

  Spinocerebellar ataxia type-3 (SCA-3), also known as Machado-Joseph disease (MJD), is a genetic cerebellar ataxia. This condition is characterized by the occurrence of progressive imbalance, uncoordination of the limbs, slurred speech and abnormal eye movements; albeit other clinical presentations are possible (such as parkinsonism). The cause of the disease is a mutation in a gene called ATXN3. This variation causes a repetition of the amino acid glutamine in the resulting protein. Therefore, SCA-3 can also be considered as a member of the “polyglutamine diseases” (like Huntington disease). The elongated protein originates toxic products which have deleterious effects on neurons, causing their loss in a process called neurodegeneration. Since the basis of the disease is genetic, this condition usually affects several members of a family. Unfortunately, we do not have an effective treatment for this condition nowadays.
  In order to devise a clinical trial, two basic conditions are required. First, a group of patients suitable to test the drug which is being studied (especially patients in early stages of the disease) is essential. Second, it is necessary to measure a variable which can reflect the progression of the disease (that is to say, a biomarker). The European SCA-3/MJD Initiative (ESMI) project aims to recruit a cohort of presymptomatic and mildly affected patients with SCA-3. It also aims to identify potential biomarkers by a comprehensive physical examination, blood and cerebrospinal fluid sampling, movement analysis, performance of Magnetic Resonance Imaging (MRI) and a battery of neuropsychological tests. The patients will receive a baseline assessment, as well as two follow-ups (in the first and the second year) in the National Hospital for Neurology and Neurosurgery (NHNN), University College of London. All the data collected will be shared with the rest of the partners of the study (Germany, Netherlands, Portugal) to create a multicenter database.

• REC name

  London - Surrey Borders Research Ethics Committee

• REC reference

  17/LO/0381

• Date of REC Opinion

  26 Apr 2017

• REC opinion

  Further Information Favourable Opinion