WS Conference

Restoring Sight: Therapeutic Perspectives in Wolfram disease

Dr Cecile Delettre – Criballet, France

This presentation is currently being edited and will be added shortly.

New discoveries reveals Wolframin as a central player in the life of the cells

Dr Vania Broccoli. CNR – National Research Council Institute of Neuroscience, Milan. Italy

Unfortunately, this presentation contains  some new, unpublished data, which means it can’t yet be made public, but will follow soon!

Amylyx HELIOS Trial Week 48 Results and Updates

Dr Jamie Timmons. Senior Vice President, Medical Affairs, Amylyx. USA

TreatWolfram – What’s Next?

Prof Timothy Barrett. Leonard Parsons Professor of Paediatrics, NIHR Senior Investigator. Director, Centre for Rare Disease Studies. Department of Cancer and Genomic Sciences – University of Birmingham, UK.

Honorary Consultant Paediatric Endocrinology and Diabetes – Birmingham Women’s and Children’s Hospital NHS Trust

Wolfram syndrome: from physiopathology to therapy.

Dr Benjamin Delprat, MMDN, Inserm U1198.

Preliminary results on the Tirzepatide monotherapy in Wolfram syndrome trial   

Dr Guilio Frontino and Dr Amelia Caretto, IRCCS San Raffaele Hospital, Milan, Italy

Wolfram Syndrome Clinical Trials: Advancing Treatments from Medications to Gene-Editing

Dr Fumihiko Urano MD, PhD. Samuel E. Schechter Professor in Medicine. Director, Wolfram Syndrome and Related Disorders Clinic and Study @ BJC HealthCare. Washington University School of Medicine

If the subtitles don’t automatically come up, please use the settings icon (a cog) in the bottom right of your screen when you watch the video

Treat Wolfram – What next?

Prof Timothy Barrett, Leonard Parsons Professor of Paediatrics, NIHR Senior Investigator. Director, Centre for Rare Disease Studies. Department of Cancer and Genomic Sciences – University of Birmingham, UK.

Honorary Consultant Paediatric Endocrinology and Diabetes – Birmingham Women’s and Children’s Hospital NHS Trust

Amylyx: Helios Trial Update

Dr Jamie Timmons, Senior Vice President, Medical Affairs, Amylyx USA

Tom Darley – talking about living with WS

Pre-recorded presentation from Speech and Language Therapist about WS swallowing issues.

Living with WS –  Abby Gardner, Georgina Carolan and Naomi Bennett talk about living with WS and answer questions from the audience.

Benefits and Student Transition – presented by Zoe Bates, Eye Clinic Liaison Officer at Queen Elizabeth Hospital and Talia Treen, Eye Clinic Liaison Officer at Birmingham Children’s Hospital

Amylyx Helios Trial – presented by Dr Jamie Timmons from Amylyx Pharmaceuticals.

TREATWolfram Update – Professor Timothy Barrett presenting on an update on the TREATWolfram Trial and the next steps

Neurodegeneration in Wolfram Syndrome: casting a wider net.

Dr Nayana Gaur – PhD, University of Tartu, Estonia.

This video is currently unavailable as it contains some unpublished data.

Unified Care for diverse challenges: Crafting national guidelines for Wolfram Syndrome from diagnosis to care.

Dr Maurizio Delvecchio and Fr Giulio Frontino, IRCCS San Raffaele Hospital, Milan. Italy

TREATWolfram Trial update

Prof Tim Barrett – Centre for Rare Disease studies, University of Birmingham. UK

Diagnosis, management and current and future clinical trials for Wolfram Syndrome

Dr Fumi Urano, Washington University school of medicine, St Louis, USA.

Preliminary results from a Phase 2, open label study evaluating an oral fixed dose combination of Sodium Phenylbutyrate and Taurursodial in Wolfram Syndrome (HELIOS).

Dr Mathias Leinders and Dr Jamie Timmons – Amylyx Pharmaceuticals

WSUK – Expanding our reach

Presented by John Isherwood – Chair of Trustees

Planning for the Future to protect your child

Philip Warford from Renaissance Legal.

Information correct as at 1st October 2022.

Sports and Activities

Presented by Royal National College for the Blind and British Blind Sports

What’s new in published research, and update on current and future treatment trials.

Presented by Prof Timothy Barrett.

Update from Snow Foundation & WS Global Patient Registry

Stephanie Gebel, CEO and Pat Gibilisco, Patient Advocacy Liaison Officer from the Snow Foundation, USA

Therapeutic Development for Wolfram Syndrome – Dr Fumi Urano, Washington University Hospital, St Louis, USA.

Progress and Progression of Diabetes Mellitus in Wolfram – Dr Bess Marshall, Washington University Hospital, St Louis.

TREATWolfram Trial Update – Prof Timothy Barrett

Psychology Workshop – Gayle McKerracher – Consultant Clinical Psychologist at Birmingham Children’s Hospital

Wellbeing and Resilience

TREATWolfram Update – Prof Tim Barrett, Dr Renuka Dias and Dr Ben Wright

Loss of Vision in Wolfram Syndrome – Dr Patrick Yu Wai Man,  Cambridge University Hospital

WS Global Patient Registry

Oligodendracytes in Wolfram Syndrome – Prof Lies de Groef

This presentation is unable to go live just yet as there is data that was presented that isn’t yet published. As soon as this happens the presentation video will be added.

Novel therapies for Wolfram syndrome – Dr Fumihiko Urano, MD, PhD​

Interest in ophthalmology and your review of eye findings in Wolfram, and your interpretation of the effect of Liraglutide and other medicines on visual function, from the Mario Plaas group – Dr Christophe Orssaud 

Wolfram Syndrome Global Awareness Day – Tracy Lynch WSUK

Information about the first global awareness day taking place on 1st October and how the WS Community can get involved.

Modelling neuro-retinal symptoms of Wolfram Syndrome in patient-derived stem cells and mice – Prof Vania Broccoli.

This presentation is unable to go live just yet as there is data that was presented that isn’t yet published. As soon as this happens the presentation video will be added.

Bladder Function in Wolfram Syndrome – Mr Liam McCarthy from Birmingham Children’s Hospital.

Ophthalmology Benefits and Apps workshop – Talia Treen from Queen Elizabeth Hospital, Birmingham

Speech and Language workshop for swallowing/choking – Georgie Smith from Queen Elizabeth Hospital

NEW

Lifelong treatment with GLP1 receptor agonist in rat model of Wolfram syndrome – Dr Mario Plaas and  Dr Anton Terasmaa, Estonia.

TREATWolfram Update – Prof Tim Barrett and Dr Renuka Dias – Birmingham Children’s Hospital and Dr Ben Wright – Queen Elizabeth Hospital, Birmingham.

Optic nerve involvement in Wolfram syndrome – Dr Patrick Yu Wai Man, Cambridge University and Moorfields Eye Hospital.