A retrospective study of subjects with a mutation in the MTRFR/C12orf65 gene causing complex Charcot-Marie-Tooth disease Type 6 (CMT6)

Status: Open to recruitment

Background

Inherited peripheral neuropathies are often collectively referred to as Charcot-Marie-Tooth disease (CMT) and can be caused by changes (mutations) in over 100 different genes. One of the genes involved in Charcot-Marie-Tooth disease type 6 (CMT type 6) is the MTRFR/C12orf65 gene. MTRFR/C12orf65 mutations are more frequent than previously suggested. The first symptom in individuals with MTRFR/C12orf65 deficiency is usually childhood-onset optic atrophy, which is followed by weakness in the arms and legs (caused by neuropathy), ataxia and in some people, learning difficulties.    

This retrospective study is important because it will allow investigators to acquire standardised clinical data on participants, greatly increasing our ability to develop common approaches and definitions to characterise the MTRFR/C12orf65 genotype and phenotype, and to develop new clinical trials, observational studies, and eventually treatments.

Objectives

The objectives for this study are to:

  • Identify more information about the disease caused by the changes in the MTRFR/C12orf65 gene.
  • Develop outcome measures (including patient reported outcome measures) for MTRFR/C12orf65 deficiency, which can facilitate the development of clinical trials.
  • Establish a clinical database of individuals with MTRFR/C12orf65 deficiency.

Research aims:

The aim of this study is to better understand the natural history and progression of disease caused by mutations in MTRFR/C12orf65, by building a database of clinical data on these participants.  This will help us to guide the design of innovative new clinical trials, with the long-term goal of developing treatments for patients.

Who can take part?

  • Individuals with a confirmed (or likely) MTRFR/C12orf65 mutation (of any age).

What is involved?

As part of this study, we will ask you to:

  • Attend an interview to collect information about your condition and your past medical history. This can be done remotely (via telephone or video-conferencing) and will take approximately 1-1.5 hours.
  • Share any copies of medical notes, clinic letters or test results that you have with the research team.

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