LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\)NCT06503367
Observation Study in Patients Age 0-5 Years With LAMA2-related Congenital Muscular Dystrophy
An observational study of LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\), run by Nationwide Children's Hospital at 14 sites in United States.
Trial summary
The goal of this observational study is to understand how young children with LAMA2-related dystrophy move and change over time. We will also learn about how this condition impacts other body systems. Read more about this study
- Who is it for?
- Ages Up to 5 years
- Conditions the study is for
- LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\)
- How many people
- 44 participants
- Where
- 14 sitesUnited States
- Study dates
- 12 May 2025to Sep 2028
- 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 Up to 5 years
- All sexes
- No healthy volunteers
- Child
Study population: Study population will be neuromuscular clinic patients of site principal investigators, as well as individuals identified by our genetic counselor.
Who may be able to join
- Signed informed consent by the subject, parent(s) or legally authorized representative (LAR) and/or assent by the subject (when applicable).
- Subject must be aged birth to less than 5.0 years of age at time of consent.
- A confirmed diagnosis of LAMA2-RD confirmed via:
- a: Two pathogenic variants in the LAMA2 gene (via a CLIA-approved laboratory) or: b. muscle biopsy with absence of merosin (laminin-211) and at least one pathogenic variant in the LAMA2 gene
- Absence of another confirmed genetic disease.
- Willingness to maintain current exercise and/or physical therapy regimen for the duration of the clinical study.
- Willingness to comply with the study protocol, including but not limited to, all study procedures and visits.
Who cannot join
- Acute medical illness or hospitalization within 30 days prior to informed consent.
- Participation in a previous trial of any investigational agent for LAMA2-RD within 1 month prior to informed consent, or use of any other investigational therapy (including off-label use of Losartan) within 30 days prior to informed consent, or participation in other clinical studies, within 30 days (or 3 half-lives, whichever is longer) prior to informed consent, which in the opinion of the PI, may potentially confound results from this study.
- Other significant medical condition, which in the opinion of the site Principal Investigator may confound interpretation of the clinical course of LAMA2- RD.
Trial locations and contacts
14 sites in 1 country. Contact the study team or a site near you to ask about taking part.
14 sites in 1 country
United States14 sites, 14 recruiting
- Recruiting
National Institute of Neurological Disorders and Stroke, NIH
Bethesda, Maryland, 20892
Dana MacDonald, (301) 402-2273, dana.macdonald@nih.gov
Reghan Foley, MD
- Recruiting
Boston Children's Hospital
Boston, Massachusetts, 02115
Elicia Estrella, (617) 919-7384, Elicia.Estrella@childrens.harvard.edu
Partha Ghosh, MD
- Recruiting
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611
Raven Hill, (312) 227-2937, rhill@luriechildrens.org
Nancy Kuntz, MD
- Recruiting
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
Jessica Getz, (513) 803-9036, Jessica.getz@cchmc.org
Cuixia Tian, MD
- Recruiting
Nationwide Children's Hospital
Columbus, Ohio, 43205
Kevin Warf, (614) 355-2765, ReadyCMDLAMA2@nationwidechildrens.org
Anne M Connolly, MD
- Recruiting
University of Texas Southwestern
Dallas, Texas, 75235
Shahera Ranjha, (214) 456-5959, Shahera.Ranjha@UTSouthwestern.edu
Kaitlin Batley, MD
- Recruiting
University of Iowa Stead Family Children's Hospital
Iowa City, Iowa, 52242
Laura Knosp, (319) 384-6277, laura-knosp@uiowa.edu
Katherine Mathews, MD
- Recruiting
University of California, Los Angeles
Los Angeles, California, 90095
Indumathi Mohanchandra, (310) 825-3264, IMohanchandra@mednet.ucla.edu
Perry Shieh, MD PhD
- Recruiting
Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
Heather Dicostanzo, (412) 692-7660, follhl@upmc.edu
Hoda Abdel-Hamid, MD
- Recruiting
University of Rochester
Rochester, New York, 14627
Kim Hart, (585) 275-3767, kim_hart@urmc.rochester.edu
Bo Hoon Lee, MD
- Recruiting
University of Minnesota
Saint Paul, Minnesota, 55108
Ellen Poppy, (612) 625-2850, poppy005@umn.edu
Peter Kang, MD
- Not yet recruiting
University of Utah
Salt Lake City, Utah, 84112
Jessi Beyer, (801) 587-4865, jessi.beyer@hsc.utah.edu
Russell Butterfield, MD PhD
- Recruiting
Washington University in St. Louis
St Louis, Missouri, 63130
Julie Miner, (314) 362-1566, m.julie@wustl.edu
Craig Zaidman, MD
- Recruiting
Stanford University
Stanford, California, 94305
Lin Karman, (650) 384-9417, lkarman@stanford.edu
Carolina Tesi-Rocha, MD
About this study
Official title: Establishing Clinical Trial Readiness for Children 0-5 Years With Congenital Muscular Dystrophy Secondary to LAMA2 Mutations (READY CMD LAMA2)
The goal of this observational study is to understand how young children with LAMA2-related dystrophy move and change over time. We will also learn about how this condition impacts other body systems.
Participants will undergo:
- Neuromuscular assessments
- Blood collections
- Swallowing and breathing assessments
- Questionnaires
Read the detailed description
READY CMD LAMA2 is a Pre-Phase 1, single-arm, multicenter, prospective natural history clinical study to evaluate the natural history and potential early outcome measures in subjects with laminin α2-related dystrophy (LAMA2-RD) aged 0-5 years. The study seeks to enroll 44 subjects across 14 sites. NCH will enroll 10 subjects.
Subjects will complete in-person visits at Baseline, Month 6, Month 12, Month 18, and Month 24. Within two weeks of the Baseline, Month 12, and Month 24 visits, a remote visit will be performed to repeat and compare remote outcomes with in-person outcomes. Remote visits only will also be performed at Month 3 and Month 9. Adverse events will be captured every three months, beginning at baseline. Phone calls will be made by the coordinator and/or other delegated study staff at months 3, 9, 15, and 21.
The total study duration for each subject is up to 24 months.
Physical assessments to be performed will depend on the subject's age and may include the following:
- Assessment of motor milestones (maintained, lost or acquired)
- Neuromuscular Gross Motor Outcome (GRO)
- Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND)
- Motor Function Measure (MFM-20)
- Bayley-4
- Respiratory assessments: capnography and collection of data on use of non- invasive ventilation and other respiratory support
- Physical exam
- Swallow/oromotor assessment: To be performed by physician, occupational therapist, speech language pathologist, or other licensed professional at the site.
- Muscle ultrasound may be performed at some sites.
Other assessments:
- Growth parameters [head circumference, chest circumference, length, weight, body mass index (BMI)]
- 12-lead electrocardiogram
- Mode of feeding
- Peds Quality of Life (PedsQL) Neuromuscular Module
- Pediatric Evaluation of Disability Inventory (PEDI)
- Clinical Global Impression of Change (CGIC), physician and parent/caregiver assessed.
- Blood samples will be collected from subjects and stored for biomarker and other research purposes. Blood samples will be collected at each in-person visit.
- Data from electronic medical records of evaluations performed as standard of care visits will be collected.
Medical history, concomitant medications, and AEs will be collected and assessed for a potential relationship to participation in this study.
The total duration of the study for each subject is up to approximately 24 months. A subject will be considered to have competed the study if he/she has completed all assessments up to and including Month 24 assessments. The end of the study is defined as the date of completion of the last scheduled assessment shown in the Schedule of Events for the last subject in the study.
Subjects who prematurely discontinue study participation will be encouraged to complete an End-of- Study Visit to include assessment of motor milestones and recording of AEs.
- Keywords
- Early Phase 1, Observational, Natural History, Neuromuscular, Functional Assessments
- Medical subject headings
- Muscular dystrophy congenital, merosin negative
What is being measured
The primary outcome is the main question the study is designed to answer.
Validate the change over 24 months using the Neuromuscular Gross Motor Outcome
The Neuromuscular GRO is a 50-item assessment that measures a child's gross motor function when lying down, sitting, crawling, walking, jumping, and climbing stairs.
Measured: 24 months
Validate the change over 24 months using the Bayley Scales of Infant and Toddler Development™ 4th Ed (BayleyTM-4)
The Bayley assess four areas of development: Gross Motor, Fine Motor, Speech and Language, and Social. These results are compared to typically developing children ages 15 days to 42 months. The entire assessment takes between 1 and 3 hours, with breaks.
Measured: 24 months
Validate the change over 24 months using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders
The CHOP-Intend includes 16-items to measure a child's ability to move their body in a lying down position, supported sitting, and assisted rolling.
Measured: 24 months
Validate the change over 24 months using the Motor Function Measure Scale-Short Form
The MFM-20 contains 20 items to assess a child's motor function in sitting, lying down, standing, and completing tabletop activities.
Measured: 24 months
Validate the change over 24 months using the World Health Organization motor milestones
A child will be asked to complete 6 items to assess attainment of gross motor milestones including sitting without support, crawling, standing, and walking with and without assistance.
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Jul 2024
- Study start12 May 2025
- Primary completionSep 2028 (estimated)
- Study completionSep 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\)Studies of the same condition, open and under way.
- More trials run by Nationwide Children's HospitalThe sponsor's other registered studies.
- 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
- 44 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Nationwide Children's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), Ann & Robert H Lurie Children's Hospital of Chicago, Children's Hospital Medical Center, Cincinnati, University of Iowa, Washington University School of Medicine, Stanford University, University of Utah, University of Rochester, University of Pittsburgh, University of Texas, Southwestern Medical Center at Dallas, University of Minnesota, University of California, Los Angeles, Boston Children's Hospital
- Responsible party
- Principal investigator, Anne M. Connolly, Nationwide Children's Hospital
- Investigators
- Anne M Connolly, MD, Principal investigator, Nationwide Childrens Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06503367
- Sponsor's protocol ID
- Ready CMD LAMA2
- Other IDs
- 1U01NS124961-01A1
- Status last verified
- Aug 2026
- First submitted
- 21 Jun 2024
- Last updated
- 19 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Establishing Clinical Trial Readiness for Children 0-5 Years With Congenital Muscular Dystrophy Secondary to LAMA2 Mutations (READY CMD LAMA2)
- ClinicalTrials.gov ID
- NCT06503367
- Acronym / sponsor ID
- Ready CMD LAMA2
- Keywords
- Early Phase 1, Observational, Natural History, Neuromuscular, Functional Assessments
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 44 participants (estimated)
- Lead sponsor
- Nationwide Children's HospitalUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS), Ann & Robert H Lurie Children's Hospital of Chicago, Children's Hospital Medical Center, Cincinnati, University of Iowa, Washington University School of Medicine, Stanford University, University of Utah, University of Rochester, University of Pittsburgh, University of Texas, Southwestern Medical Center at Dallas, University of Minnesota, University of California, Los Angeles, Boston Children's Hospital
- Study start
- 12 May 2025 (actual)
- Primary completion
- Sep 2028 (estimated)
- Study completion
- Sep 2028 (estimated)
- First posted
- 16 Jul 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.
The goal of this observational study is to understand how young children with LAMA2-related dystrophy move and change over time. We will also learn about how this condition impacts other body systems.
Participants will undergo:
- Neuromuscular assessments
- Blood collections
- Swallowing and breathing assessments
- Questionnaires
Detailed description
READY CMD LAMA2 is a Pre-Phase 1, single-arm, multicenter, prospective natural history clinical study to evaluate the natural history and potential early outcome measures in subjects with laminin α2-related dystrophy (LAMA2-RD) aged 0-5 years. The study seeks to enroll 44 subjects across 14 sites. NCH will enroll 10 subjects.
Subjects will complete in-person visits at Baseline, Month 6, Month 12, Month 18, and Month 24. Within two weeks of the Baseline, Month 12, and Month 24 visits, a remote visit will be performed to repeat and compare remote outcomes with in-person outcomes. Remote visits only will also be performed at Month 3 and Month 9. Adverse events will be captured every three months, beginning at baseline. Phone calls will be made by the coordinator and/or other delegated study staff at months 3, 9, 15, and 21.
The total study duration for each subject is up to 24 months.
Physical assessments to be performed will depend on the subject's age and may include the following:
- Assessment of motor milestones (maintained, lost or acquired)
- Neuromuscular Gross Motor Outcome (GRO)
- Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND)
- Motor Function Measure (MFM-20)
- Bayley-4
- Respiratory assessments: capnography and collection of data on use of non- invasive ventilation and other respiratory support
- Physical exam
- Swallow/oromotor assessment: To be performed by physician, occupational therapist, speech language pathologist, or other licensed professional at the site.
- Muscle ultrasound may be performed at some sites.
Other assessments:
- Growth parameters [head circumference, chest circumference, length, weight, body mass index (BMI)]
- 12-lead electrocardiogram
- Mode of feeding
- Peds Quality of Life (PedsQL) Neuromuscular Module
- Pediatric Evaluation of Disability Inventory (PEDI)
- Clinical Global Impression of Change (CGIC), physician and parent/caregiver assessed.
- Blood samples will be collected from subjects and stored for biomarker and other research purposes. Blood samples will be collected at each in-person visit.
- Data from electronic medical records of evaluations performed as standard of care visits will be collected.
Medical history, concomitant medications, and AEs will be collected and assessed for a potential relationship to participation in this study.
The total duration of the study for each subject is up to approximately 24 months. A subject will be considered to have competed the study if he/she has completed all assessments up to and including Month 24 assessments. The end of the study is defined as the date of completion of the last scheduled assessment shown in the Schedule of Events for the last subject in the study.
Subjects who prematurely discontinue study participation will be encouraged to complete an End-of- Study Visit to include assessment of motor milestones and recording of AEs.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- Up to 5 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Study population will be neuromuscular clinic patients of site principal investigators, as well as individuals identified by our genetic counselor.
Key inclusion criteria (7 listed)
- Signed informed consent by the subject, parent(s) or legally authorized representative (LAR) and/or assent by the subject (when applicable).
- Subject must be aged birth to less than 5.0 years of age at time of consent.
- A confirmed diagnosis of LAMA2-RD confirmed via:
- a: Two pathogenic variants in the LAMA2 gene (via a CLIA-approved laboratory) or: b. muscle biopsy with absence of merosin (laminin-211) and at least one pathogenic variant in the LAMA2 gene
- Absence of another confirmed genetic disease.
Key exclusion criteria (3 listed)
- Acute medical illness or hospitalization within 30 days prior to informed consent.
- Participation in a previous trial of any investigational agent for LAMA2-RD within 1 month prior to informed consent, or use of any other investigational therapy (including off-label use of Losartan) within 30 days prior to informed consent, or participation in other clinical studies, within 30 days (or 3 half-lives, whichever is longer) prior to informed consent, which in the opinion of the PI, may potentially confound results from this study.
- Other significant medical condition, which in the opinion of the site Principal Investigator may confound interpretation of the clinical course of LAMA2- RD.
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
Validate the change over 24 months using the Neuromuscular Gross Motor Outcome
Time frame: 24 months
The Neuromuscular GRO is a 50-item assessment that measures a child's gross motor function when lying down, sitting, crawling, walking, jumping, and climbing stairs.
Validate the change over 24 months using the Bayley Scales of Infant and Toddler Development™ 4th Ed (BayleyTM-4)
Time frame: 24 months
The Bayley assess four areas of development: Gross Motor, Fine Motor, Speech and Language, and Social. These results are compared to typically developing children ages 15 days to 42 months. The entire assessment takes between 1 and 3 hours, with breaks.
Validate the change over 24 months using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders
Time frame: 24 months
The CHOP-Intend includes 16-items to measure a child's ability to move their body in a lying down position, supported sitting, and assisted rolling.
Validate the change over 24 months using the Motor Function Measure Scale-Short Form
Time frame: 24 months
The MFM-20 contains 20 items to assess a child's motor function in sitting, lying down, standing, and completing tabletop activities.
Validate the change over 24 months using the World Health Organization motor milestones
Time frame: 24 months
A child will be asked to complete 6 items to assess attainment of gross motor milestones including sitting without support, crawling, standing, and walking with and without assistance.
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 19 Aug 2026.
Related trials for LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\)
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Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers
LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A), LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\)
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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.
Anne M Connolly, MD principal investigator
Nationwide Childrens Hospital
14 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\), run by Nationwide Children's Hospital at 14 sites 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 7 inclusion and 3 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 19 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 14 sites 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 Kevin Warf ((614) 355-2765, ReadyCMDLAMA2@nationwidechildrens.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Validate the change over 24 months using the Neuromuscular Gross Motor Outcome (time frame: 24 months). The study lists 5 primary outcomes in all. 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 19 Aug 2026.