UNEW
John Walton MD Research Centre

Share4Rare Pilot for Rare Neuromuscular Diseases

Researcher
The Share4Rare platform is growing in strength, with more than 1.000 users validated since April 2019. This growing community of rare disease patients and families is providing a secure environment for people to connect, share information and learn more about their disease.

We are pleased to announce that we will soon be ready to start the research projects on the S4R platform. The ‘My Studies’ area will provide an opportunity for researchers to submit surveys to the S4R community about neuromuscular diseases but also paediatric rare tumours, long-term effects of the treatment of acute lymphoblastic leukaemia and undiagnosed cases.

Users who fit the eligibility criteria for the questionnaires about clinical information donation will be able to access it in this part of the platform. Eligibility is determined by the information entered during the registration process (for instance based on diagnosis-or lack thereof, symptoms, age etc). Data collected from the surveys will be anonymised, analysed, and aggregate data made available through the platform.

 

The World Duchenne Organisation and the John Walton Muscular Dystrophy Research Centre at Newcastle University are leading the pilot for rare neuromuscular diseases.

The neuromuscular pilot will collect information about quality of life/burden of illness and the impact of the disease on education and employment opportunities for patients and their families. Quality of life data for neuromuscular diseases is scarce, and we are excited to have the opportunity to advance research in this area. The pilot will collect and analyse information for neuromuscular diseases, including the following diseases:

  • Muscular dystrophies, for instance, Myotonic Dystrophy, Facioscapulohumeral MD (FSHD), Limb-Girdle MD (LGMD), Congenital MD (CMD)
  • Amyotrophic lateral sclerosis (ALS)
  • Peripheral neuropathies
  • Congenital myasthenias
  • Congenital myopathies

We will open this research study in January 2020 for registered patients and carers who are affected by the above mentioned neuromuscular diseases. Patients and carers affected by one of the above diseases, who have not yet registered for Share4Rare but would like to participate in the research study, can register here.

Contact info@share4rare.org if you have questions, or would like additional information about the upcoming pilots.

Related diseases
Amyotrophic lateral sclerosis
Becker muscular dystrophy
Congenital muscular dystrophies
Congenital myasthenias
Congenital myopathies
Duchenne muscular dystrophy
Fascioescapulohumeral muscular dystrophy
Limb girdle muscular dystrophy
Myotonic dystrophy
Peripheral neuropathies
Spinal muscular atrophy
Topics
Quality of life
Share4Rare