Limb-Girdle Muscular Dystrophy Type 2ANCT03488784
Natural History of Limb Girdle Muscular Dystrophy Type 2A and Type 2E
An observational study of Limb-Girdle Muscular Dystrophy Type 2A and Limb-Girdle Muscular Dystrophy, Type 2E, run by Lindsay Alfano at 1 site in United States.
Trial summary
This is an observational study, no drug (marketed or investigational) will be provided as part of the study, and the study procedures will have no impact on the medical care delivered to patients participating in this study. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Limb-Girdle Muscular Dystrophy Type 2A, Limb-Girdle Muscular Dystrophy, Type 2E
- How many people
- 100 participants
- Where
- 1 siteUnited States
- Study dates
- 29 Nov 2016to 11 Aug 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
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: Individuals suspected of having LGMD type 2E or type 2A due to symptoms and a diagnosed family member or a member of a community with a large population of one of these two types. Individuals with a diagnosis of LGMD2E or LGMD2A with genetic testing including carriers of type 2E or type 2A
Who may be able to join
- Suspected LGMD2A or LGMD2E by symptoms and having a family member diagnosed with 2A or 2E, or have genetic confirmation of one of these two types of LGMD themselves.
- Perform assessments to the best of their ability with reliable results as deemed by the evaluator. Ability to attend scheduled appointments Ability to provide informed consent (or assent for ages 9-18)
Who cannot join
- Confirmed diagnosis of neuromuscular disorder other than LGMD2E or LGMD2A Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with the protocol required testing or procedures or compromise the subject's well being, safety, or clinical interpretability.
Trial locations and contacts
1 site in 1 country.
United States1 site
Nationwide Children's Hospital
Columbus, Ohio, 432015
About this study
Official title: Natural History of Disease Progression in Individuals With Limb Girdle Muscular Dystrophy Type 2A and Type 2E
This is an observational study, no drug (marketed or investigational) will be provided as part of the study, and the study procedures will have no impact on the medical care delivered to patients participating in this study. The overall study data collection period is planned to last up to 5 years with assessments occurring at baseline, and every 6 months thereafter for a total period of 3 years.
Medical records for enrolled patients will be abstracted at baseline and annually to obtain clinical information, and data will be recorded for the study. Eligible patients will be asked to provide informed consent and to complete semi-annual patient surveys and functional assessments. The patient surveys will include selected PRO instrument(s) along with additional questions to characterize the patient's perception of disease.
Read the detailed description
Neuromuscular disease can be characterized by progressive muscle degeneration, impaired pulmonary status, and decreased cardiac function.(1-8) Additionally, these neuromuscular disorders can be rare, and therefore difficult to establish the natural progression of each disease.The natural history of each neuromuscular disorder provides valuable information about the specific progression of the disease, which can guide in understanding which outcomes to measure in order to show change for clinical trials. Experimental treatments for many of these neuromuscular disorders are currently being assessed in clinical trials with others in the pipeline for upcoming clinical trials in the near future. Thus, the need to reliably and objectively detect small, meaningful changes in daily functional activities in order to serve as a supportive measure of efficacy in clinical trials is of great importance.
Functional and strength measures have been utilized as primary, secondary or exploratory outcomes in clinical trials studying the efficacy of drug therapies. Many of these outcome measures have been shown to be reliable and have been validated in neuromuscular disease.
This longitudinal study aims to characterize the clinical progression and functional impact on patients with neuromuscular disorders over time by evaluating functional and patient-reported outcomes (PROs). The association between functional impairment and long-term outcomes, such as loss of mobility, falls, and quality of life, will be examined.
- Medical subject headings
- Limb-girdle muscular dystrophy type 2A, Limb-girdle muscular dystrophy, type 2E
What is being measured
The primary outcome is the main question the study is designed to answer.
Strength
Force production testing using standardized equipment
Measured: 6 months
Secondary outcomes (2)
Walking speed
Timing how fast the person can walk 100 meters
Measured: 6 months
Physical functioning
Observing or surveying how well a person can perform activities of daily living
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Apr 2018
- Study start29 Nov 2016
- Primary completion11 Aug 2025
- Study completion11 Aug 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Limb-Girdle Muscular Dystrophy Type 2AStudies 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
- 100 participants (actual)
Sponsor and investigators
- Lead sponsor
- Lindsay Alfano
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Lindsay Alfano, Nationwide Children's Hospital
- Investigators
- Linda Lowes, PT PhD, Principal investigator, Nationwide Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03488784
- Sponsor's protocol ID
- IRB17-01086
- Status last verified
- Aug 2025
- First submitted
- 29 Mar 2018
- Last updated
- 14 Aug 2025
- 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 14 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History of Disease Progression in Individuals With Limb Girdle Muscular Dystrophy Type 2A and Type 2E
- ClinicalTrials.gov ID
- NCT03488784
- Acronym / sponsor ID
- IRB17-01086
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 100 participants (actual)
- Lead sponsor
- Lindsay AlfanoUniversity, hospital or other
- Study start
- 29 Nov 2016 (actual)
- Primary completion
- 11 Aug 2025 (actual)
- Study completion
- 11 Aug 2025 (actual)
- First posted
- 5 Apr 2018 (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.
This is an observational study, no drug (marketed or investigational) will be provided as part of the study, and the study procedures will have no impact on the medical care delivered to patients participating in this study. The overall study data collection period is planned to last up to 5 years with assessments occurring at baseline, and every 6 months thereafter for a total period of 3 years.
Medical records for enrolled patients will be abstracted at baseline and annually to obtain clinical information, and data will be recorded for the study. Eligible patients will be asked to provide informed consent and to complete semi-annual patient surveys and functional assessments. The patient surveys will include selected PRO instrument(s) along with additional questions to characterize the patient's perception of disease.
Detailed description
Neuromuscular disease can be characterized by progressive muscle degeneration, impaired pulmonary status, and decreased cardiac function.(1-8) Additionally, these neuromuscular disorders can be rare, and therefore difficult to establish the natural progression of each disease.The natural history of each neuromuscular disorder provides valuable information about the specific progression of the disease, which can guide in understanding which outcomes to measure in order to show change for clinical trials. Experimental treatments for many of these neuromuscular disorders are currently being assessed in clinical trials with others in the pipeline for upcoming clinical trials in the near future. Thus, the need to reliably and objectively detect small, meaningful changes in daily functional activities in order to serve as a supportive measure of efficacy in clinical trials is of great importance.
Functional and strength measures have been utilized as primary, secondary or exploratory outcomes in clinical trials studying the efficacy of drug therapies. Many of these outcome measures have been shown to be reliable and have been validated in neuromuscular disease.
This longitudinal study aims to characterize the clinical progression and functional impact on patients with neuromuscular disorders over time by evaluating functional and patient-reported outcomes (PROs). The association between functional impairment and long-term outcomes, such as loss of mobility, falls, and quality of life, will be examined.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals suspected of having LGMD type 2E or type 2A due to symptoms and a diagnosed family member or a member of a community with a large population of one of these two types. Individuals with a diagnosis of LGMD2E or LGMD2A with genetic testing including carriers of type 2E or type 2A
Key inclusion criteria (2 listed)
- Suspected LGMD2A or LGMD2E by symptoms and having a family member diagnosed with 2A or 2E, or have genetic confirmation of one of these two types of LGMD themselves.
- Perform assessments to the best of their ability with reliable results as deemed by the evaluator. Ability to attend scheduled appointments Ability to provide informed consent (or assent for ages 9-18)
Key exclusion criteria (1 listed)
- Confirmed diagnosis of neuromuscular disorder other than LGMD2E or LGMD2A Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with the protocol required testing or procedures or compromise the subject's well being, safety, or clinical interpretability.
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
Strength
Time frame: 6 months
Force production testing using standardized equipment
2 secondary outcomes
Walking speed
Time frame: 6 months
Physical functioning
Time frame: 6 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Aug 2025.
- Individual participant dataSharing planned: No
Related trials for Limb-Girdle Muscular Dystrophy Type 2A
RecruitingObservational study
Natural History Study for Charcot Marie Tooth Disease
Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth
Active, not recruitingPhase 1/2
A Study to Evaluate the Safety of AB-1003 (Previously LION-101) in Subjects With Genetic Confirmation of LGMD2I/R9 (Part1)
Limb Girdle Muscular Dystrophy, Limb-Girdle Muscular Dystrophy Type 2
Active, not recruitingObservational study
LGMD R1 Natural History Study
Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2A, Limb Girdle Muscular Dystrophy
Active, not recruitingObservational study
Evolution of the Functional and Muscular State of Patients With Muscular Dystrophy 2A Belts
Limb Girdle Muscular Dystrophy
RecruitingObservational study
Long-Term Development of Muscular Dystrophy Outcome Assessments
LGMD1B, LGMD1C
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. This study is not recruiting at the moment.
Linda Lowes, PT PhD principal investigator
Nationwide Children's Hospital
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 Limb-Girdle Muscular Dystrophy Type 2A and Limb-Girdle Muscular Dystrophy, Type 2E, run by Lindsay Alfano 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: finished, as of the sponsor's last update on 14 Aug 2025. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Strength (time frame: 6 months). 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 14 Aug 2025.