TNNT1-associated MyopathyWiTNNessNCT06374719
WiTNNess - TNNT1 Myopathy Natural History Study
An observational study of TNNT1-associated Myopathy and Infantile-onset Nemaline Rod Myopathy, run by Clinic for Special Children at 1 site in United States.
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- TNNT1-associated Myopathy, Infantile-onset Nemaline Rod Myopathy, Myopathies, Nemaline
- How many people
- 40 participants
- Where
- 1 siteUnited States
- Study dates
- 23 Sep 2018to 1 Jun 2027
- How long will I take part?
- 3 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The study population includes anyone diagnosed with biallelic pathogenic variants of TNNT1
Who may be able to join
- Diagnosed with biallelic pathogenic variants of TNNT1
- Infantile-onset or childhood-onset proximal weakness without confounding medical conditions that could effect muscle health.
Who cannot join
- 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 locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Clinic for Special Children
Gordonville, Pennsylvania, 17529
Justin Hersh, 7176879407, jhersh@clinicforspecialchildren.org
Joelle Wiliamson, MPH, 7176879407, jwilliamson@clinicforspecialchildren.org
About this study
Official title: WiTNNess: An International Natural History Study of Autosomal Recessive TNNT1 Myopathy
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).
Read the detailed 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.
- Conditions
- TNNT1-associated Myopathy, Infantile-onset Nemaline Rod Myopathy, Myopathies, Nemaline, Myopathy, Myopathy, Rod, Myopathy; Hereditary
- Medical subject headings
- Myopathies, Nemaline, Muscular Diseases, Nemaline myopathy 5
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Day 1 up to 15 years
Secondary outcomes (2)
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.
Measured: All milestones normally achieved by postnatal age 17.1 months (normal 99th percentile reference value for independent walking).
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).
Measured: Day 1 up to 15 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Apr 2024
- Study start23 Sep 2018
- Primary completion1 Jan 2027 (estimated)
- Study completion1 Jun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for TNNT1-associated MyopathyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 40 participants (estimated)
- Target duration
- 3 Years
Sponsor and investigators
- Lead sponsor
- Clinic for Special Children
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Vincent J Carson, MD, Principal investigator, Clinic for Special Children
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06374719
- Sponsor's protocol ID
- WiTNNess
- Acronym
- WiTNNess
- Status last verified
- Jun 2026
- First submitted
- 12 Apr 2024
- Last updated
- 23 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 23 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- WiTNNess: An International Natural History Study of Autosomal Recessive TNNT1 Myopathy
- ClinicalTrials.gov ID
- NCT06374719
- Acronym / sponsor ID
- WiTNNess / WiTNNess
- Conditions
- TNNT1-associated Myopathy, Infantile-onset Nemaline Rod Myopathy, Myopathies, Nemaline, Myopathy, Myopathy, Rod, Myopathy; Hereditary
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- Clinic for Special ChildrenUniversity, hospital or other
- Study start
- 23 Sep 2018 (actual)
- Primary completion
- 1 Jan 2027 (estimated)
- Study completion
- 1 Jun 2027 (estimated)
- First posted
- 19 Apr 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Detailed 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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 3 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study population includes anyone diagnosed with biallelic pathogenic variants of TNNT1
Key inclusion criteria (2 listed)
- Diagnosed with biallelic pathogenic variants of TNNT1
- Infantile-onset or childhood-onset proximal weakness without confounding medical conditions that could effect muscle health.
Key exclusion criteria (1 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Event-free survival
Time frame: Day 1 up to 15 years
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.
2 secondary outcomes
Motor Milestones
Time frame: All milestones normally achieved by postnatal age 17.1 months (normal 99th percentile reference value for independent walking).
Thriving
Time frame: Day 1 up to 15 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Jun 2026.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Vincent J Carson, MD principal investigator
Clinic for Special Children
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of TNNT1-associated Myopathy and Infantile-onset Nemaline Rod Myopathy, run by Clinic for Special Children at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 23 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Justin Hersh (7176879407, jhersh@clinicforspecialchildren.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Event-free survival (time frame: Day 1 up to 15 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Jun 2026.