ClinicaliQ Trial Snapshot
- A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition — Recruiting • Cardiology / Cardiovascular • NCT06581146.
- What is being tested: This study evaluates liver health and function in boys with XLMTM (X-linked myotubular myopathy), a severe genetic muscle disorder caused by MTM1 gene mutations, to monitor for potential hepatic complications during disease management and treatment.
- Patient eligibility overview: The trial recruits boys with genetically confirmed XLMTM diagnosis; specific age ranges and disease severity criteria apply, though the summary indicates focus on this rare paediatric population requiring specialist genetic muscle care.
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- Quick orientation before opening the registry record.
- Checking recruitment status, phase and sponsor at a glance.
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What This Trial Is Studying
XLMTM (X-linked myotubular myopathy) is a serious genetic muscle condition. It is caused by changes in the MTM1 gene which stops or slows down normal muscle development, causing severe muscle weakness. There is currently no cure for XLMTM. Ongoing care is needed to manage symptoms and prevent further medical problems from this condition. Recent research shows that individuals with XLMTM often have reduced bile flow which can affect liver and gallbladder health. Bile is a liquid made in the liver that helps digest fat. Ongoing liver health checks may help…
Eligibility Snapshot
- : * Participant has a diagnosis of XLMTM resulting from a genetically confirmed mutation in the MTM1 gene based on genetic test reports. * Participant requires some mechanical ventilatory support (e.g., ranging from 24 hours per day full-time mechanical ventilation, to non-invasive support such as continuous positive airway pressure (CPAP) or bilevel positive airway pressure (BiPAP) during sleeping hours) * Participant (as applicable) and/or parent(s)/carer is willing to comply with the recommended schedule of assessments.
Use the source registry for the full inclusion and exclusion criteria before discussing referral or enrolment.