Does your child have a positive MECP2 mutation?


With gene therapy clinical trials approaching, it’s more important than ever that we are able to accurately state the number of UK children, young people and adults with a confirmed genetic mutation or deletion on the MECP2 gene.

This is because the gene therapies which are currently being trialed are specifically targeting the MECP2 gene. All patients must have a confirmed genetic mutation to take part and, should the trials show the therapies to be effective, a confirmed genetic mutation will be part of the eligibility process for any approved treatments which become available thereafter. We are currently sending out call outs for expressions of interest in potential UK gene therapy trials to help demonstrate need and interest in the UK.

When we set out to contact families of registered patients, we are only contacting families of patients with a confirmed genetic mutation. Therefore, if you know your child does have a positive mutation, but you do not remember if you marked this on the Rett Registry UK, you should check this asap and mark the mutation as positive.

If your child does not have a confirmed mutation or if you don’t know if they do or not, please email [email protected] and we will help you find out.

If you cannot get into the registry for any reason, please email [email protected] and she will help you.

Call for expressions of interest

Born in 2019 to present day – email due on or before 24.06.23

Born between 2014-2018 – email due on or before 04.07.23

Born before 2014 but after 2006 – email due on or before 07.07.23

The reason we are checking all age groups is:

Because we do not yet have confirmation of the age groups.

Because protocol is sometimes amended part way through a trial to include patients at either end of the age range.

Families of people born before 2006, we are going to be emailing you as well, just so that we have the numbers to show to companies to say, whatever next for adults, we are warm here for an adults’ trial or better still, for approved therapies for our much beloved adults with Rett.

If you have not marked the patient’s record with a positive MECP2 mutation, you will not receive this email. If you know your person has a mutation but you don’t know what it is, please sign into the registry and make sure you have at least marked down that the test result was positive. We are only able to contact MECP2 positive patients for gene therapy trials.

If you need any help at all, either with accessing your registry account or deciphering genetic results, do get in touch using [email protected] or through any of the socials @reverserett.