Research projects supported by the registry

The registry has helped support a wide range of researchers since 2013 with recruitment to research projects, surveys and clinical trials. The registry has also enabled the sharing of de-identified data with interested researchers to understand more about specific aspects of FSHD.

Please see below the range of projects that the registry has supported. We would like to thank all of the patients and caregivers for their involvement in these projects, and for continuing to support researchers by engaging in such projects.


FSHD projects supported by the registry since 2013



  • University of Bath survey. The aim of this survey was to understand whether fatigue is a concern for young people (11-18 years old) with a neuromuscular disease and if it impacts on other areas of life, such as social activities, sleep, and mood.


  • FSHD Society enquired about some high level information about what is collected by the registry, enrolment numbers and other information associated with the operations of the registry to support a future meeting to discuss FSHD registries.


  • University of Rochester Neuromuscular Disease survey. The aim of the survey was to understand the impact of COVID-19 on patients with neuromuscular diseases.



  • European Reference Network (ERN) for Rare Neuromuscular Diseases COVID survey. The ERN aimed to collect data on the effects of COVID-19 in NMD patients.


  • University of Plymouth Stay COVID survey. The aim of the survey was to find out how the Stay Home advice during the pandemic has influenced parents’ decision making and care of sick or injured children.


  • University of Rochester Neuromuscular Disease survey. The aim of the survey was to understand the impact of COVID-19 on patients with neuromuscular diseases.


  • Muscular Dystrophy UK clinical trial capacity questionnaire for FSHD. A survey was circulated to over 30 adult neuromuscular specialists in the UK to understand clinical trial capacity for future studies. The registry was used to identify some of these specialists.


  • FSHD Society Voice of the Patient Forum survey. The registry circulated five surveys that aimed to support patient informed drug development, to over 900 patients in the UK. Overall 88 people completed all surveys which made up 15% of survey recruitment.

  • Share4Rare neuromuscular pilot and education/employment survey. The registry circulated a new neuromuscular platform and survey to over 900 patients.


  • University College London NHS Foundation Trust dysphagia in neuromuscular disorders survey. The registry circulated this survey on swallowing difficulties to caregivers and patients, to help understand how service delivery in the UK may be optimised.


  • Newcastle University Fertility and Pregnancy survey in Neuromuscular Diseases. A survey was developed by Newcastle University to understand more about fertility and pregnancy in neuromuscular diseases. This was circulated through the registry in July 2020. There were 29% of the overall participants (130) who had FSHD and were from the registry.

  • Genetic Alliance Patient and Caregiver Experience survey. A survey was developed by Genetic Alliance to understand the details of the rare disease patient and caregiver experience, so that they can detect future changes brought about by the new rare disease framework (formerly known as the UK Strategy for Rare Diseases). The was circulated through the registry in July 2020.


  • University of Surrey Sleep in FSHD survey. An extensive survey was developed by the University of Surrey to understand more about sleep in patients with FSHD, as it is currently an understudied area of research. The survey was circulated through the registry to 699 patients in July 2020 and 84 took part.

  • Sysnav and Parent Project Muscular Dystrophy Digital Endpoint survey. A research survey was developed by Parent Project Muscular Dystrophy (PPMD) and Sysnav, for patients living with a neuromuscular disease, their families, and caregivers. This is an international survey collecting the opinion, expectations, and concerns regarding the use of a wearable device in clinical trials as well as the clinical meaningfulness of potential outputs.  There were 128 FSHD patients and 8 caregivers who took part from an international sample. The registry contributed to some of this.



  • A survey from Southampton University to assess the quality of pain registries. The registry project manager completed this.


  • UK National Confidential Enquiry into Patient Outcome and Death (NCEPOD) long term ventilation survey. This circulated by the registry to relevant parents and caregivers.


  • A PhD student at King’s College London was running a study measuring active and resting behaviours in people with progressive muscle weakness, and to test the quality of measurement. Study information was shared with the registry and there were 196 interested registry participants but only 4 were recruited due to limited recruitment capacity.

  • A patient focused survey to assess a proposed industry clinical study design in patients with FSHD. Compared to five other study sites, the registry was the best recruitment source, helping recruit 41% of all patients involved.



  • De-identified data on the factors affecting rate of onset of major FSHD symptoms was shared with a UK researcher from King’s College London. Data from 730 patients on the registry was analysed, detailing 53 variables including age, sex, symptom onset, D4Z4 length etc.



  • Scapular fixation data was analysed from 50 patients on the registry by researchers at Newcastle University and University College London.


  • Clinical and demographic data from 642 patients on the registry was analysed by researchers at Newcastle University to better understand the phenotypic aspects of the disease.


  • Recruitment to a study titled Acceptance and Commitment Therapy for Muscle Disease (ACTMuS) (NCT02810028) involving three UK hospitals.  There were 110 interested registry participants with 23 participants being included. The study team recognised the registry as the most successful recruitment source.


  • Data from over 350 patients on the registry was analysed by the team at Newcastle University and the registry steering committee, to understand associations between pain and quality of life in FSHD.


  • English validation of newly developed Rasch-built patient reported outcome measure that was developed by Radboud University. The tool was adapted and circulated to 558 adults on the registry and 287 (52%) completed the questionnaire.



  • Genetic Alliance survey to understand how FSHD2 impacts the day to day lives of affected individuals. This was circulated through the registry to help the Human Fertilisation and Embryology Authority decide on whether preimplantation genetic diagnosis was suitable in FSHD2.


  • Recruitment to an arm cycling study in FSHD run by The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (NCT04267354). The registry recruited 12 out of 15 participants for this study making up 80% of the study recruitment.

  • University of Aveiro semantic data integration study. The registry dataset was extracted to support this study.



  • An upper limb assessment survey which would inform an arm cycling study was conducted by The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust. The survey was sent to 532 patients on the registry, with 44% taking part.



  • An international collaborative study on the clinical features, expression profiling, and quality of life of infantile onset facioscapulohumeral muscular dystrophy was conducted by the Cooperative International Neuromuscular Research Group (NCT01437345). For the sole UK site in Newcastle, the registry contributed to 42% of patient recruitment.

  • Pregnancy data was analysed from 195 females on the registry by a doctor at Kings College Hospitals NHS Foundation Trust to inform possible future research plans.



  • No registry enquiries