WiTNNess - TNNT1 Myopathy Natural History Study

NCT06374719 | Recruiting

• 1 other identifier: WiTNNess
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

Brief 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).

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

Outcome Measures

Primary Outcomes (1)

• 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.

  Day 1 up to 15 years

Secondary Outcomes (2)

• Motor Milestones

  All milestones normally achieved by postnatal age 17.1 months (normal 99th percentile reference value for independent walking).

• Thriving

  Day 1 up to 15 years

Study Arms (2)

Prospective

Participants in the prospective cohort are enrolled during early infancy, shortly after diagnosis, and followed longitudinally with repeated assessments until reaching the primary study outcome.

Cross-Sectional

Participants in the cross-sectional cohort enroll at any time after diagnosis and all study data are collected at a single time point.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study population includes anyone diagnosed with biallelic pathogenic variants of TNNT1

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Clinic for Special Children: lead

Study Sites (1)

Clinic for Special Children

Gordonville, Pennsylvania, 17529, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood

MeSH Terms

Conditions

Myopathies, Nemaline; Muscular Diseases; Nemaline myopathy 5

Condition Hierarchy (Ancestors)

Myopathies, Structural, Congenital; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases

Study Officials

• Kevin Strauss, MD

  Clinic for Special Children

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Erin Sweigert

CONTACT

7176879407; esweigert@clinicforspecialchildren.org

Joelle Williamson, MPH

CONTACT

7176879407; jwilliamson@clinicforspecialchildren.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 12, 2024
• First Posted: April 19, 2024
• Study Start: September 23, 2018
• Primary Completion (Estimated): January 1, 2027
• Study Completion (Estimated): June 1, 2027
• Last Updated: February 12, 2025

Record last verified: 2025-02

Locations

US (1)