NZ Neuromuscular Disease Registry

30/06/2024

https://www.nzherald.co.nz/nz/young-kiwi-becomes-first-in-world-to-receive-ground-breaking-gene-therapy/ID57PASR6NB5LFZLE5EFGQIHMQ/

A Kiwi is the first to be treated with the gene-silencing drug for a rare disorder.

18/12/2022

We're hiring! Join a small dynamic team dedicated to people with neuromuscular & neurogenetic conditions and work on international trials and studies.

Company Description: Waipapa Taumata Rau | The University of Auckland The Faculty of Medical and Health Sciences is a diverse faculty with more than 4,000 students studying across six schools, led by world-leading researchers.  We are is committed to improving the health of our local, national....

15/10/2022

Here is this week's most-read article featured on our website! Are you caught up?

The U.K.’s National Institute for Health and Care Excellence has published new draft guidance that does not recommend Translarna be covered to treat Duchenne muscular dystrophy caused by nonsense mutations. https://buff.ly/3TmiCtb

30/09/2022

A first patient has been dosed in first part of Phase 1/2 trial of a one-time gene therapy for limb-girdle muscular dystrophy type 2I or R9.

27/09/2022

Finally! A funded treatment for children with SMA in Aotearoa-New Zealand!

Proposal to fund nusinersen (Spinraza) for spinal muscular atrophy 28 September 2022 Medicines Consultation Closes 24 Oct What we’re proposingWe are seeking feedback on a proposal to fund nusinersen, branded as Spinraza, for the treatment of spinal muscular atrophy (SMA) in New Zealand.Nusinersen ...

27/09/2022

Two of our Neurogenetics stars graduated tonight Ouday Almoukdad and Avroneel Ghosh. Pictured here with Associate Professor Richard Roxburgh,
Dr Ouday Almoukdad is completing an epidemiological study of New Zealanders with inherited ataxias and hereditary spastic paraplegia.
Dr Avroneel Ghosh has been updating the data of people with Limb-Girdle muscular dystrophy in Pūnaha Io the NZ Neurogenetic Registry & Biobank.
Congratulations to you both!

10/09/2022

The recording of Women + Duchenne made for World Duchenne Awareness Day 2022 is now available

Educational event for World Duchenne Awareness Day focused on Women & Duchenne.More information about the agenda and speakers → https://www.worldduchenneday....

02/09/2022

An innovative treatment that repairs a faulty genetic mechanism is being trialled by Kiwis with a rare muscle disease for the first time in the world.

02/09/2022

https://www.auckland.ac.nz/en/news/2022/08/26/nz-leads-world-in-trial-of-futuristic-therapy.html?utm_term=hea,fmhs

24/08/2022

Highly recommend listening to this excellent podcast during August awareness month

August is Spinal Muscular Atrophy (SMA) awareness month. It's the biggest genetic killer of infants. Some children with less severe forms of SMA will never walk, others will also suffer severe respiratory issues or need feeding tubes. This morning's show was dedicated to some of the key people at th...

26/07/2022

HOPE for older boys with Duchenne muscular dystrophy

-Double-Blind, Randomized, Placebo-Controlled HOPE-3 Clinical Trial Designed to Enroll approximately 70 Patients- -HOPE-3 Builds on Positive Data...

25/07/2022

𝗪𝗼𝗺𝗲𝗻 𝗮𝗻𝗱 𝗗𝘂𝗰𝗵𝗲𝗻𝗻𝗲: 𝗦𝗵𝗮𝗿𝗲 𝘆𝗼𝘂𝗿 𝘀𝘁𝗼𝗿𝘆!
How do you experience ? Write your story and add photos, or record your experience. Publish your story with the hashtag .

Women and Duchenne: Share your story! Join the community and help raise awareness for women in Duchenne on World Duchenne Awareness Day!