WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.

ABSTRACT:

Objective

We created WiTNNess as a hybrid prospective/cross-sectional observational study to simulate a clinical trial for infantile-onset TNNT1 myopathy. Our aims were to identify populations for future trial enrollment, rehearse outcome assessments, specify endpoints, and refine trial logistics.

Methods

Eligible participants had biallelic pathogenic variants of TNNT1 and infantile-onset proximal weakness without confounding conditions. The primary endpoint was ventilator-free survival. "Thriving" was a secondary endpoint defined as the ability to swallow and grow normally without non-oral feeding support. Endpoints of gross motor function included independent sitting and standing as defined by the Word Health Organization, a novel TNNT1 abbreviated motor score, and video m

SUBMITTER: Strauss KA 

PROVIDER: S-EPMC10647004 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature