WiTNNess is designed to accurately document the natural course and variation of muscle disease caused by pathogenic changes of the TNNT1 gene. The primary aim of the study is to specify meaningful outcome measures for future clinical trials. WiTNNess is open to children and adults worldwide. Participants can choose to include their information once (cross-sectional cohort) or every few months (prospective cohort).
Diagnosed with biallelic pathogenic variants of TNNT1
Infantile-onset or childhood-onset proximal weakness without confounding medical conditions that could effect muscle health.
Another known or suspected medical condition (genetic or acquired) that could potentially alter the natural disease course or otherwise interfere with completion of study procedures.
The study population includes anyone diagnosed with biallelic pathogenic variants of TNNT1
Cohort
Prospective
Not listed
Event-free survival
The primary outcome is time until death or permanent ventilatory support, defined as any invasive (e.g., tracheostomy) or non-invasive (e.g., bilevel positive airway pressure) mechanical ventilatory assistance for ≥16 hours daily during ≥14 consecutive days in the absence of a reversible clinical state.
Motor Milestones
Six motor milestones that include sitting without support, standing with assistance, hands and knees crawling, walking with assistance, standing alone, and walking alone, as defined by the Word Health Organization Multicentre Growth Reference Study.
Thriving
Maintain weight at ≥3rd WHO reference percentile for sex and age. The ability to swallow normally and maintain body weight equal to or greater than the WHO 3rd reference percentile for sex and age without requiring non-oral feeding support (i.e., nasogastric or gastrostomy tube).
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