The EXCEL Study

• Research type

  Research Study

• Full title

  A Non-interventional, Epidemiologic Study of XLMTM and Clinical Expression in the Liver

• IRAS ID

  347776

• Contact name

  Giovanni Baranello

• Contact email

  g.baranello@ucl.ac.uk

• Sponsor organisation

  HEOR Astellas Gene Therapies Head of Regions, Medical Affairs

• Clinicaltrials.gov Identifier

  06581146, NCT Number

• Duration of Study in the UK

  1 years, 5 months, 0 days

• Research summary

  X-linked myotubular myopathy (XLMTM) is a rare genetic disorder that primarily affects muscle strength and function in participants and can cause muscle weakness, difficulties in breathing, and developmental delays. Liver problems have also been identified in some individuals with XLMTM. This study is being done to gain a better understanding of the liver issues that could be associated with the reduction or stoppage of bile flow [bile is a yellowish-green fluid produced by the liver that helps in the digestion of food]), and to collect information that can help to improve current treatment practices, management of XLMTM, and future potential clinical study designs for investigational treatments. This study is a real-world clinical study (an observational study) to better understand liver problems in male participants with XLMTM and it will not involve the testing of investigational medicines or therapies.

  Participants will take part in this study for as long as they or their General Practitioner (GP) thinks it is appropriate, up to 48 weeks (approximately 1 year) after the time they consent to participate.

  Around 50 male participants will take part in this study in Canada (CAN), the United Kingdom (UK), and the United States (US).

  The primary objective is to assess hepatobiliary health by estimating the incidence and
  prevalence of cholestatic complications in participants with XLMTM.

  The secondary objectives are:
  ● To evaluate the association between genetic variants of MTM1 and cholestasis
  ● To evaluate the association between environmental modifiers and cholestasis
  ● To evaluate healthcare utilization related to hepatobiliary and cholestatic complications
  

• REC name

  East of England - Essex Research Ethics Committee

• REC reference

  25/EE/0022

• Date of REC Opinion

  13 Feb 2025

• REC opinion

  Unfavourable Opinion