MTM and CNM Patient Registry

04/08/2025

Would recommend this webinar to female patients or carriers with xlinked MTM1

21/07/2025

📣 XLMTM female carrier survey

The MTM-CNM Global Patient Registry has developed a short anonomymous survey specifically with females with variants in the MTM1 gene. All females are invited to participate in the survey whether or not they are experiencing symptoms.

We encourage participation so we can better understand if, and how, the condition affects female carriers.

⏰ The survey can be completed in 10 mins and the link is is open until Sunday 27th July. Any questions, please email us mtmcnmregistry@ncl.ac.uk

📊 Survey link

Https:/wwwsurvio.com/survey/d/F9V3E1COY9AOG7G0O

16/07/2025

Astellas Pharmaceuticals have received approval from the US Drug Regulator, the FDA, to begin a clinical trial of their gene therapy product ASP2957.
MTM-CNM Family Connection and the Myotubular Trust will together host a webinar on Thursday 24th July where Astellas will discuss their plans for VALOR (their working name for this clinical trial) and take questions. This webinar will be open to everyone and we will share details in the coming days

16/07/2025

📣Exciting news from Astellas about the forthcoming XLMTM VALOR trial … watch this space for more details regarding a patient webinar.

01/07/2025

📣 just noticed this and thought I’d share the link to register to this webinar on female carriers of X linked conditions (1 July -5pm BST)

"The conventional classification of XL inheritance into dominant and recessive subtypes is biologically flawed and should be retired." (https://pubmed.ncbi.nlm.nih.gov/39963886/) Join Remember The Girls for an educational webinar with Sanjana Basava, an upcoming junior at Northwestern University stu...

04/06/2025

31/05/2025

01/05/2025

📣 Do you want to know more about registry activities and what we’ve been working on ?

📣Do you want to know more about what a patient registry does, how we protect your data and use it to support research activities?

🗓️ We invite you to take a few minutes to read our recently issued Spring newsletter. If you have any ideas for future editions, please get in touch we would be keen to hear from you !!

Dear Registry Participants,

10/04/2025

📣 Last opportunity (for now! 💜 ) for anyone in the UK with lived experience of a rare condition to join our new advisory group for the LifeArc Centre for Acceleration of Trials! LifeArc Centre for Acceleration of Rare Disease Trials

👀 We're looking for people 18+ living with a rare condition, as well as parents, carers, or patient representatives.

We welcome lived experience of any and all rare conditions: inherited or acquired, paediatric-onset or adult onset, rare or extremely rare.

For this Lived Experience Advisory Panel, we need people from all 4 nations of the UK. If you are very experienced in PPIE, or have never been involved in any advisory group or project or trial before, we want to hear from you!

https://lnkd.in/eu7Fm6WZ

Our applications close midnight tomorrow (Friday).

We will have MORE applicants than we can bring into this Advisory Panel, at least in the 1st instance; however, the application form asks for permission to recontact you about similar opportunities to shape the new LifeArc centres for , as well as participation in webinars, focus groups workshops and more, as part of our LifeArc Centre for Acceleration of Rare Disease Trials

Beacon for Rare Diseases Genetic Alliance UK Kerry Leeson-Beevers

This link will take you to a page that’s not on LinkedIn

24/03/2025

Really well organised and informative
event at Patient Information Day on 21 March in London.

Thanks to the organisers for the invite and for a great patient focused day and meeting lovely patients and hearing about their journey with NMD.
Will look forward to the next one.

Registries
Dystrophy UK

03/03/2025

Highly recommend listening to this very powerful podcast featuring the eloquent Anne Lennox Myotubular Trust. It clearly explains how patient organisations and charities can help with the vital fundraising efforts needed to support lab based research in rare disease.

When families receive a rare disease diagnosis, they often become the deepest experts in their condition. With no existing charity to support myotubular myopathy research, Anne co-founded Myotubular Trust, helping drive early-stage research that led to a groundbreaking gene therapy trial.

While patient-led initiatives have been crucial, not every family has the resources to fund or lead research. In this Rare Disease Day special, we explore how collaboration across patients, researchers, clinicians, and regulators is shaping the future of rare condition therapies. We also discuss initiatives like the UK Platform for Nucleic Acid Therapies (UPNAT), which aims to streamline treatment development and improve equitable access for everyone impacted by rare conditions 🎙️

Tune in here: https://ow.ly/LsmI50V6J39

28/02/2025

More than two thirds of rare diseases start in childhood. It can be a huge shock for parents to discover their child has a rare disease and may require a lifetime of care. We have members who work closely with patients and their families. Lindsay Alfano, Meredith James and Linda Lowes are all physiotherapists working in our field. In these videos, they share their thoughts on the current and developing role of physiotherapy, the adaptations over recent years and the value of in-person consultations: https://buff.ly/4h1fs9M