WiTNNess - TNNT1 Myopathy Natural History Study

Description

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).

Conditions

TNNT1-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

Study Overview

Study Details

Study overview

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).

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

WiTNNess - TNNT1 Myopathy Natural History Study

Condition
TNNT1-associated Myopathy
Intervention / Treatment

-

Contacts and Locations

Strasburg

Clinic for Special Children, Strasburg, Pennsylvania, United States, 17579

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * 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.

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Clinic for Special Children,

Kevin Strauss, MD, PRINCIPAL_INVESTIGATOR, Clinic for Special Children

Study Record Dates

2027-06-01