WiTNNess - TNNT1 Myopathy Natural History Study

Myopathy Clinical Trial

— WiTNNess  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06374719
• Other study ID #: WiTNNess
• Status: Recruiting
• Start date: September 23, 2018
• Est. completion date: June 1, 2027

Study information

• Verified date: April 2024
• Source: Clinic for Special Children
• Contact: Joelle Williamson, MPH
• Phone: 7176879407
• Email: jwilliamson[@]clinicforspecialchildren.org
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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).

Description:

WiTNNess is an observational study that includes prospective and cross-sectional arms, both of which include people diagnosed with autosomal recessive TNNT1-associated muscle disease, commonly described as a form of infantile-onset (NEM5A) or childhood-onset (NEM5B) nemaline rod myopathy. The study's primary objective is to establish the nature and time course of disease outcomes under current treatment, so that these can later be compared to outcomes achieved with novel disease-modifying therapies (i.e., interventional trials).

Participants from all over the world are welcome to enroll in either arm of the WiTNNess study. Following appropriate consent, those in the prospective arm are followed long-term. Recurring assessments are performed at the participant's home, the Clinic for Special Children, or a partnering clinical site, depending on the individual's particular circumstances. Basic assessments include vital signs, a physical exam, documentation of motor milestones, growth measurements, and blood chemistry values. Participant's may also undergo non-invasive ultrasound of the heart (echocardiogram) and one or more chest radiographs.

Participants in the cross-sectional arm are contacted once after consent. Members of the WiTNNess study team partner with healthcare providers and family members to capture pertinent medical history, physical exam findings, growth metrics, and motor milestones at the time of contact.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 40
• Est. completion date: June 1, 2027
• Est. primary completion date: January 1, 2027
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Diagnosed with biallelic pathogenic variants of TNNT1

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

Exclusion Criteria:

• 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.

Related Conditions & MeSH terms

• Muscular Diseases
• Myopathy
• Myopathy; Hereditary

Locations

Country	Name	City	State
United States	Clinic for Special Children	Strasburg	Pennsylvania

Sponsors (1)

Lead Sponsor	Collaborator
Clinic for Special Children

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Motor Milestones	Six motor milestones that include sitting without support, standing with assistance, hands and knees crawling, walking with assistance, standing alone, and walking alone, as defined by the Word Health Organization Multicentre Growth Reference Study.	All milestones normally achieved by postnatal age 17.1 months (normal 99th percentile reference value for independent walking).
Secondary	Thriving	Maintain weight at =3rd WHO reference percentile for sex and age. The ability to swallow normally and maintain body weight equal to or greater than the WHO 3rd reference percentile for sex and age without requiring non-oral feeding support (i.e., nasogastric or gastrostomy tube).	Day 1 up to 15 years