An observational study in Congenital Myopathies and Muscular Dystrophy, sponsored by Akron Children's Hospital. Enrolling by invitation at 1 site in United States. Open to participants aged Up to 21 Years. Per ClinicalTrials.gov, last updated 2026-11-03.
Sponsored by Akron Children's Hospital · Observational
The goal of this observational study is to learn how rare genetic muscle diseases change over time and whether muscle cells grown from a participant's blood can help researchers understand the disease. The study will include children and young adults under age 21 with a genetic muscle disease and a rare genetic change that may be suitable for a future personalized treatment.
The main questions are:
How do each participant's muscle strength, movement, and health change over time? Can muscle cells grown from a participant's blood show how their genetic change affects muscle? For some participants, can a potential treatment improve those cells in the laboratory?
Participants will be followed for approximately 2 years. Researchers will review their health, measure muscle function, and ask participants and caregivers about quality of life. Assessments may also include blood tests, muscle ultrasound, muscle MRI without sedation, optional nerve and muscle electrical measurements, and ankle-worn movement sensors for participants who walk.
Researchers will use a blood sample to grow muscle cells in the laboratory to better understand how a muscle condition develops and what potential treatments might work.
The goal of this observational study is to learn how rare genetic muscle diseases change over time and whether muscle cells grown from a participant's blood can help researchers understand the disease. The study will include children and young adults under age 21 with a genetic muscle disease and a rare genetic change that may be suitable for a future personalized treatment.
The main questions are:
How do each participant's muscle strength, movement, and health change over time? Can muscle cells grown from a participant's blood show how their genetic change affects muscle? For some participants, can a potential treatment improve those cells in the laboratory?
Participants will be followed for at least 2 years and up to 4 years. They will have full clinic visits about every 6 months and shorter assessments about every 3 months. Researchers will review their health, measure muscle function, and ask participants and caregivers about quality of life. Assessments may also include blood tests, muscle ultrasound, muscle MRI without sedation, optional nerve and muscle electrical measurements, and ankle-worn movement sensors for participants who walk.
Researchers will use a blood sample to grow muscle cells in the laboratory. For some participants, they will test experimental antisense oligonucleotides, which are molecules designed to change how a gene's instructions are used, in those cells only. No participant will receive an experimental treatment in this study. A future treatment study would require separate enrollment and consent.
29 studies on the registry are indexed under Myotonia Congenita; 12 are open to participants now.
This study's planned enrollment of 3 is below the median of 44 across 16 observational studies indexed under Myotonia Congenita.
Browse Myotonia Congenita studies →Akron Children's Hospital is the lead sponsor of 33 studies on the registry; 4 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients with genetic myopathies and ultra-rare mutations potentially amenable to personalized antisense oligonucleotide therapy
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Patient age at time of consent is \<21 years.
Clinically confirmed genetic muscle disease* with either:
The identified variant is theoretically amenable to at least one of the following RNA-targeted therapeutic strategies12 described below and based on published guidelines ***:
The clinical phenotype is sufficiently severe and/or progressive to warrant consideration of future therapeutic approaches, as determined by consensus of the trial team, taking into account factors such as:
Parent or caregiver is fluent in English to ensure valid administration of standardized outcome measures and procedures.
Genetic muscle disease is defined as a genetically determined condition in which the primary phenotype arises from skeletal muscle pathology. Disorders may have extra-muscular manifestations (e.g., neurocognitive features in Duchenne muscular dystrophy), but skeletal muscle dysfunction must be the primary driver of impairment. Eligible diagnoses include congenital muscular dystrophies, congenital myopathies, dystrophinopathies, limb-girdle muscular dystrophies, and skeletal muscle channelopathies. Confirmation of the variant of interest must be obtained through DNA sequencing performed in a CLIA-certified laboratory.
For subjects with variants of uncertain significance by standard American College of Medical Genetics (ACMG) criteria, orthogonal pathogenicity data will be required. This is expected in cases of deep intronic variants, where clinical genetic reports may not account for RNA sequencing data obtained from external labs.
Exclusion Criteria:
Availability of an effective (expected to halt all disease progression) disease-modifying therapy for the patient's condition at the time of enrollment.
Variants with mechanisms not compatible with the therapeutic strategies under evaluation, including:
Comorbid conditions that would interfere with the performance or interpretation of key outcome measures, including but not limited to:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
Blood tests of how long blood takes to clot. The INR is the prothrombin time (PT) put on a common scale; about 1 is usual for someone not taking a blood thinner.
Criteria often make an exception for people on a blood thinner such as warfarin, whose INR is raised on purpose.
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Investigational drug or device
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Corticosteroids (steroids)
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Platelets
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
INR, PT and aPTT (clotting tests)
Blood tests of how long blood takes to clot. The INR is the prothrombin time (PT) put on a common scale; about 1 is usual for someone not taking a blood thinner.
Criteria often make an exception for people on a blood thinner such as warfarin, whose INR is raised on purpose.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Cancer (malignancy)
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Participants with rare genetic myopathies potentially amenable to personalized antisense oligonucleotide therapy
Medical Research Council (MRC) sum score
Sum of bilateral Medical Research Council grades for arm abduction, arm flexion, arm extension, hip flexion, knee extension, and ankle dorsiflexion. Scoring values are 0 (Minimum) to 60 (Maximum), with a higher score representing better outcomes.
Time frame: Enrollment to 2 years
North Star Ambulatory Assessment (NSAA)
The North Star Ambulatory Assessment (NSAA) is a 17-item rating scale that is used to measure functional motor abilities in ambulant children with Duchenne Muscular Dystrophy (DMD). It is usually used to monitor the progression of the disease and treatment effects. The activities in the 17-itm scale are graded as follows: 2 - "Normal" - no obvious modification of activity 1 - Modified method but achieves goal independent of physical assistance from another 0 - Unable to achieve independently This scale is ordinal with 34 as the maximum score indicating fully-independent function. The higher the score, the better outcome.
Time frame: From enrollment to 2 years
10 Meter Walk/Run
Best time on 10-meter walk or run
Time frame: Enrollment to 2 years
Supine to stand velocity
Fastest time from lying to standing
Time frame: Enrollment to 2 years
Pediatric Quality of Life Inventory 4.0 Generic Core Scales (PedsQL 4.0 GCS)
Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales and Duchenne Muscular Dystrophy (DMD) Module : Patient-reported outcome measures (PROM) used to assess health-related quality of life in children with DMD. The PedsQL 4.0 Generic Core contains 23 items assessing physical, emotional, social, and school functioning, while the DMD Module includes disease-specific items addressing daily activities, treatment barriers, worry, and communication. Child self-report and parent proxy versions use a 5-point Likert scale (0 = never a problem to 4 = almost always a problem; ages 5-7 use a simplified 3-point scale). Responses are reverse-scored and transformed to a 0-100 scale, with higher scores indicating better quality of life. Scores are calculated for individual domains and total summary measures.
Time frame: Enrollment to 2 years
Patient Global Impression of Change (PGI-C)
Patient Global Impression of Change (PGI-C) and Clinician Global Impression of Change (CGI-C): Single-item assessments completed by the patient that measure overall change in the participant's condition since the start of treatment. Scores range from 1 to 7, where 1 = very much improved, 4 = no change, and 7 = very much worse. Lower scores indicate improvement, higher scores indicate worsening, and mid-range scores indicate little or no change.
Time frame: Enrollment to 2 years
Clinician Global Impression of Change (CGI-C)
Clinician Global Impression of Change (CGI-C): Single-item assessments completed by the clinician (CGI-C) that measure overall change in the participant's condition since the start of treatment. Scores range from 1 to 7, where 1 = very much improved, 4 = no change, and 7 = very much worse. Lower scores indicate improvement, higher scores indicate worsening, and mid-range scores indicate little or no change.
Time frame: Enrollment to 2 years
SV95C
95%ile stride velocity based on wearable biosensor
Time frame: Enrollment to 2 years
Grip strength
Dynamometry for grip strength, measured in kilograms taken as the best of 3 trials on the best side
Time frame: Enrollment to 2 years
Muscle Fat fraction
Muscle Fat Fraction: Quantitative MRI assessment of muscle composition performed using an 8-point Dixon MRI sequence of the right thigh on a 3 Tesla (3T) MRI scanner. Muscle fat fraction is reported as the percentage of fat-containing voxels within the muscle, with higher percentages indicating greater fatty infiltration of muscle tissue.
Time frame: Enrollment to 2 years
Muscle thickness by ultrasound
Standardized muscle thickness at standard positions on the left side measured by ultrasound and summed (biceps, vastus lateralis, and tibialis anterior)
Time frame: Enrollment to 2 years
Muscle ultrasound grayscale intensity
Mean ultrasound grayscale intensity at selected muscles measured in pixel brightness within a manual region of interest
Time frame: Enrollment to 2 years
Muscle ultrasound grayscale variability
Standard deviation of pixel grayscale intensity within a manually selected region of interest at selected muscles.
Time frame: Enrollment to 2 years
FVC
Forced vital capacity as percent predicted
Time frame: Enrollment to 2 years
4SC
Timed 4 stair climb velocity
Time frame: Enrollment to 2 years
Electrophysiology - Compound Motor Action Potential (CMAP)
Compound Muscle Action Potential (CMAP) at standard sites: A noninvasive electrophysiologic measure of the muscle's electrical response following nerve stimulation. CMAP amplitude and area are used to assess the integrity of motor nerve pathways and overall muscle activation. Reported as amplitude (millivolts \[mV\]) and, when assessed, area (millivolt-milliseconds \[mV·ms\]). Higher values generally indicate better neuromuscular function; there is no fixed range for this assessment (no minimum or maximum).
Time frame: Enrollment to 2 years
Electrophysiology - Motor Unit Number Index (MUNIX)
Motor Unit Number Index (MUNIX) at standard sites: A noninvasive electrophysiologic measure that estimates the number of functioning motor units within a muscle using nerve conduction and surface electromyography data. Calculated from CMAP and surface electromyography (EMG) recordings and reported as a unitless index score. Higher values generally indicate greater preservation of motor units; there is no fixed range for this assessment (no minimum or maximum).
Time frame: Enrollment to 2 years
Electrophysiology - Motor Unit Size Index (MUSIX)
Motor Unit Size Index (MUSIX): An electrophysiologic measure derived from CMAP and MUNIX results that estimates the average size of functioning motor units. Changes in MUSIX may reflect compensatory enlargement of remaining motor units associated with neuromuscular disease progression. Derived from CMAP and MUNIX measurements and reported as a unitless index score representing estimated average motor unit size. There is no minimum or maximum value.
Time frame: Enrollment to 2 years
Plan to share: Yes — Individual patient, anonymous biosensor data and basic clinical information will be shared with partner organization as specified by our IRB approved protocol. Additional IPD may be shared on a case-by-case basis with additional consent and IRB approval due to the small sample size, presence of genomic information, and to respect subject confidentiality.
Supporting information: Study protocol, Statistical analysis plan, Analytic code
Time frame: Supporting information such as protocol/methodology or code will be made available for up to 5 years after completion of the study.
Access criteria: Supporting information will be provided upon written request to the principal investigator.
Started Sep 2026 (actual). Primary completion is estimated for Dec 2028, 27 months after the start.
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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Akron Children's Hospital