RecruitingNCT06374719

WiTNNess - TNNT1 Myopathy Natural History Study

WiTNNess: An International Natural History Study of Autosomal Recessive TNNT1 Myopathy

Sponsor

Clinic for Special Children

Enrollment

40 participants

Start Date

Sep 23, 2018

Study Type

OBSERVATIONAL

Conditions

Myopathy TNNT1-associated Myopathy Infantile-onset Nemaline Rod Myopathy Myopathies, Nemaline Myopathy, Rod Myopathy; Hereditary Amish Nemaline Myopathy Nemaline Myopathy 5 NEM5 Genetic Muscle Disease Recessive Hereditary Disorder (Autosomal)ANM

Summary

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).

Eligibility

Inclusion Criteria2

Diagnosed with biallelic pathogenic variants of TNNT1
Infantile-onset or childhood-onset proximal weakness without confounding medical conditions that could effect muscle health.

Exclusion Criteria1

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.

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