About the Study
The Journey to understand the natural progression of individuals affected with Sarcoglycan Limb-girdle muscular dystrophy
Journey is a clinical outcomes assessment study, also referred to as a natural history study. The study does not involve the use of an investigational study drug but rather studies the natural progression of the disease and how it affects the muscles, lungs, and heart in individuals receiving the current standard of care with their doctor/care team. The study is designed to collect medical history, clinical tests, quality of life questionnaires, and functional assessments on individuals affected with Sarcoglycan Limb-girdle muscular dystrophy. Individuals participating in the study will have the same measurements collected over a period of time (~3years) during clinical study visits. Doing this kind of research helps us learn more about the condition, how muscle strength, breathing and heart function can change over time, which is a critical part needed to help researchers develop future therapies.
The Journey to uncover your potential treatment options
There are no current therapies for individuals with Limb-girdle muscular dystrophy. While the Journey study does not involve the use of an investigational study drug, your participation will provide you access to highly experienced clinicians and clinical trial investigators with expertise in your condition and knowledge about future drug therapy research. Through your participation in Journey, the study doctor will know you and monitor how your condition is progressing. With this medical information, the study doctor may consider you for future drug therapy treatments in development (including upcoming potential gene therapy treatments). Your participation in Journey will not hinder your ability to participate in future clinical studies, including those with investigational study drugs.
The Journey to contribute to future research for you and others affected
Finding treatments for rare conditions like Limb-girdle muscular dystrophy starts by learning more about the disease and the people it affects. Volunteering in clinical studies, such as a natural history, or clinical outcome study like this one, is a key part in the advancement of future therapies. Results collected from clinical outcome assessment studies (such as Journey), have helped expedite the development and approvals of therapies in those disease areas.
If you choose to participate in Journey, you will be contributing to vital research that can progress the development of potential life changing therapies for yourself, your fellow LGMD community, and the future faces of Limb-girdle muscular dystrophy.
SareptAlly is a clinical trial patient matching service for Sarepta-sponsored studies.
A Patient Navigator can help you understand your clinical trial options.
Study Official Title: Journey: A Global, Multicenter, Longitudinal Study of the Natural History of Subjects with Limb-girdle muscular dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), and Type 2C (LGMD2C/R5)
Study Number: SRP-LGMD-501-NHS
Clinicaltrials.gov url: https://clinicaltrials.gov/ct2/show/NCT04475926?term=LGMD-501-NHS&draw=2&rank=1
Enrollment: 160 Participants
Status: Actively enrolling
Locations (active and pending ):
Currently screening individuals in United States, Canada, and Europe
Planned participation in parts of South America and Asia
To support our participants, travel assistance is available
Individuals interested in participating in JOURNEY must meet certain inclusion and exclusion criteria to qualify for screening and enrollment into the study. The research physician will screen participants and select them for participation in Journey based on the following criteria:
- Male and Female
- Age 4 years and older
- Genetic diagnosis of LGMD2E/R4, LGMD2D/R3, or LGMD2C/R5.
- In the opinion of the study physician:
- Demonstrates cognitive delay or impairment that could confound motor development
- Has a medical condition that might compromise patient’s ability to comply with study requirements.
- Is participating in other interventional studies (that involve investigational study drug) at the time of enrollment in this study.
During the study, participants will undergo medical and functional procedures during the screening/baseline visits and at scheduled study visits through the end of the study. A summary of the study procedures are listed below:
Onsite visits: Screening visit and every onsite visit every 6 months for up to 3 years
At screening and every 6month visit you will attend an on-site visit with the study doctor and study research team. You will be asked to complete motor assessments (walking, strength), heart function tests, laboratory tests and blood draws, imaging assessments, and questionnaires
Phone call check-ins: Every 3 months (in-between on-site visits)
A member of the study research team will contact you by phone to ask you questions on your health and well-being.
SareptAlly is a clinical trial patient matching service for Sarepta studies. A Patient Navigator will help you identify the best clinical trial option and location for you and your family, now or in the future.
If you are interested in considering participation click here:
Select a date, local time, and your preferred language
A SareptAlly Patient Navigator will discuss your interest in the study and options for participation
Frequently Asked Questions
Will my travel expanses be reimbursed for participation in Journey?
The patient and their caregiver/travel companion (if required) will be reimbursed for study-related travel costs including transportation, hotel, and meals as required.
Is a biopsy required for participation?
No. You may participate in JOURNEY without providing a muscle biopsy sample.
What is the time commitment to participation?
We ask that you plan to participate in the Journey study for up to 3 years, with in person visits to the clinical trial center at screening and every 6 months thereafter. Your participation in Journey will not hinder your ability to participate in future clinical studies, including those with investigational study drugs.
What is a clinical outcomes assessment study?
A clinical outcomes assessment study, also referred to as a natural history study, does not involve the use of an investigational study drug but rather studies (or monitors) the natural progression of the disease in individuals receiving the current standard of care. Researchers conduct these studies to better understand how a disease progresses naturally over time and how best to identify and treat the condition with future therapies. Data from robust clinical outcomes assessment studies may be used by researchers to help support the development and approvals of future drug therapies, design more efficient clinical trials, and identify meaningful clinical and quality of life measurements.
What is the most important outcome of Journey?
Establishing a disease progression standard is the most important outcome of the study.
The study will collect various measurements of motor outcomes over times. Rigorously and frequently collected motor outcomes data, are not currently available in the literature right now. Once these data are collected as part of this study and other clinical outcomes/natural history studies using similar collection techniques, researchers can establish a disease progression standard. Potential new therapies developed in the future that show a positive change from the disease progression standard, or in some cases stabilize disease progression may be considered successful as a future drug therapy.
Are there benefits to participating in Journey?
The Journey study does not involve the use of an investigational study drug and there is no known clinical benefit for participation. However, your participation will provide you access to highly experienced clinicians and clinical trial investigators with expertise in your condition and knowledge about future drug therapy research. Through your participation in Journey, your study doctor will know you and how your condition is progressing. With this medical information, the study doctor may consider you to screen for future drug therapy treatments in development (including gene therapy treatments).
Are there risks to participating in Journey?
Although there is no experimental study drug in this study, there can be risks associated with the standard medical tests that are part of the study. Information about the possible risks, discomforts, and inconveniences related to the study is available in the consent form and should be discussed with the study doctor.
Which physicians are participating in Journey?
We have selected over 30 physicians in 10 countries with expertise within Limb-girdle muscular dystrophy to participate in the Journey Study. These physicians have experience conducting clinical studies and are associated with renowned hospitals within the United States, Canada, Europe, and parts of South America and Asia.
Every clinical study is reviewed by an institutional review board (IRB) or ethics committee (EC), which helps ensure that the study is conducted safely and that the rights and privacy of study participants are protected. Clinical studies are conducted by experienced and trained medical professionals who monitor the health of participants throughout the study.
Will I be evaluated for future clinical trials using investigational medicines (including potential future gene therapy trials)?
Yes, you would be evaluated and potentially contacted for future participation in Sarepta clinical trials (i.e. gene therapy). However, there is no guarantee that that a participant in the natural history study would receive a gene therapy or be eligible for a trial in the future.