NMD-NI

• Research type

  Research Study

• Full title

  Characterising neuromuscular disorders in Northern Ireland

• IRAS ID

  353377

• Contact name

  Amy Jayne McKnight

• Contact email

  a.j.mcknight@qub.ac.uk

• Sponsor organisation

  Queen's University Belfast

• Duration of Study in the UK

  1 years, 0 months, 1 days

• Research summary

  This study aims to investigate the epidemiology, phenotypic spectrum, genetic and biochemical profiles in patients with neuromuscular diseases in Northern Ireland, while also examining the impact of these conditions on patients' quality of life. Participants will be recruited from the neuromuscular clinic and invited to participate in three main study components:

  Blood sampling for genetic and biochemical analysis, including:
  Investigation of potential new disease-causing genes in undiagnosed patients
  Analysis of genetic modifiers
  Immune profiling

  Medical record review and clinical review to collect data on:
  Clinical presentation including pattern of muscle weakness
  Disease progression over time
  Associated medical conditions

  Qualitative interviews conducted through Queen's University Belfast's Centre for Public Health to assess the impact of neuromuscular disease on quality of life.

  If genetic or biochemical findings with potential clinical significance are identified, these will be communicated back to the clinical care team. Communication relates exclusively to research findings of potential or incidental clinical relevance. There is no direct communication from QUB research team to patients.

  All sequencing and analysis are performed at QUB within a secure, research-only environment. Results remain anonymised at this stage. If the QUB research team identifies a finding that may have potential relevance to a participant’s clinical condition, the anonymised data will be communicated to the clinical team. The SEHSCT clinical team (who alone hold the key linking codes) de-anonymise the participant record and determine whether further verification is warranted. Any subsequent analysis at BHSCT is performed after SEHSCT referral and re-identification for NHS validation.

• REC name

  HSC REC A

• REC reference

  25/NI/0118

• Date of REC Opinion

  21 Jan 2026

• REC opinion

  Further Information Favourable Opinion