A Retrospective Study of Subjects with Mutations in the C12ORF65 Gene Causing Complex CMT Type 6
The aim of this study is to better understand the clinical appearance and course of Charcot-Marie-Tooth disease type 6 (CMT type 6) caused by a genetic change (‘mutation’) in the C12orf65 gene. The first symptom in individuals with 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.
In the era of emerging clinical trials in rare genetic diseases it is important to capture the full clinical picture, as we need to develop outcome measures to detect the effect of any trial drugs. The purpose of this study is to better understand the natural history and progression of disease caused by mutations in 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.
The Chief Investigator is a doctor called Professor Rita Horvath, who carries out specialist research into neurodegenerative diseases at the University of Cambridge and Addenbrooke’s Hospital.
As a participant in this study, you would be asked to take part in a virtual study visit by telephone or online, to collect clinical data. We are particularly interested in collecting information related to your (or your family members’) genetic diagnosis, medical history, family history, birth and development history, and examination, imaging or laboratory results. It is expected that this study visit will take approximately 1-1.5 hours. If you have any copies of medical notes, clinic letters or test results, we will also ask if you would be willing to share these with the study team.
UPDATE:The University of Cambridge and Addenbrooke’s Hospital carried out the remaining two interviews for this study in early February 2025, and recruitment for this opportunity is now closed. The Cambridge Clinical Mitochondrial Research Group will begin collating the data collected over the coming months and start analysis of this, with a view to produce a report/publication that will be shared with the community at a later date. Details of the study can be found on the team’s website. Thank you if you participated in this critical study. CMT research cannot progress without your participation. We look forward to your continued participation in future studies and trials. Details of all currently open opportunities can be found on the CMTA website on the Patients as Partners in Research page. Please check back later on this year as we will be happy to keep you updated on the study’s progress.