WiTNNess - TNNT1 Myopathy Natural History Study

ConditionsTNNT1-associated Myopathy Infantile-onset Nemaline Rod Myopathy Myopathies, Nemaline Myopathy Myopathy, Rod Myopathy; Hereditary Amish Nemaline Myopathy Nemaline Myopathy 5 NEM5 Genetic Muscle Disease Recessive Hereditary Disorder (Autosomal)ANM

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

AgeNot listed

SponsorClinic for Special Children

About this trial

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 criteria

Qualifiers

Diagnosed with biallelic pathogenic variants of TNNT1

Infantile-onset or childhood-onset proximal weakness without confounding medical conditions that could effect muscle health.

Disqualifiers

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.

Trial design

Treatments tested in this trial

Not listed

Trial groups

40 Participants

are grouped into 2 trial groups

Sponsors and collaborators

Clinic for Special Children

Lead sponsor

Source ClinicalTrials.gov