In the latest update published today we learn that there have been no serious adverse effects from the treatment in both the adult and paediatric trials so far. Both groups are reporting improvements in seizures, motor skills, communication/socialisation and autonomic dysfunction from parent carers and clinicians view points. A further update will be shared later […]
Nightwatch – A non intrusive, reliable device to alert parent carers to nocturnal seizures.
Latest update from Taysha
Taysha today shared updates on their REVEAL Adolescent and Adult Study. Here is the letter to the community. Also read their press release though as there is much more detail there about the improvements seen across a number of different symptom areas.
Family Focus – Niki Konstaninou Without Wings
Many thanks to Niki and Petros who live in Cyprus for sharing their wonderful story.
Update from Neurogene Clinical Trial
Good news from Neurogene as they progress their gene therapy trial to the next stages. You can read their letter to the community here.
Latest Update on Taysha Gene Therapy
You can read the full article below:
A plain language summary of results from the LAVENDER study: trofinetide treatment for Rett syndrome
Many thanks to Future Rare Diseases for sharing this publication with us. You can read the full paper here.
Marking Rare Disease Day 2024
To celebrate Rare Disease Day 2024 one of our board members Bojana Milanov was interviewed by NORBS – the National Organisation for Rare Diseases of Serbia. Here we share her story. Many thanks Bojana. A rare disease means any disease that occurs in less than 5 people per 10,000 citizens, but a number of rare […]
Mum in Zurich Shares her Inspirational Story
Becky Jenner, President, had the pleasure of meeting Julia Ramlogan a couple of years ago when Julia launched her new organisation to raise awareness and help progress towards a cure. We are delighted to share Julia’s story and progress with her mission. https://www.montana-zug.ch/en/news/january-2024/parent-feature-interview-with-a-super-mom-julia-ramlogan
Study about Males with Rett Syndrome
Dr Tim Benke, Medical Director of the Rett Center of Excellence at Colorado Children’s Hospital is the lead Principal Investigator in a study that is seeking to understand the lived experience of Males with Rett syndrome via their parent report. He would love to have responses from parents in Europe COMIRB: 23-0075PI: Dr. Tim BenkeV. […]