Clinical trials
Pompe Disease clinical trials
Below are recruiting pompe disease clinical trials, each written for real people, not researchers. We’re tracking 22 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT07282847RecruitingPhase 1/Phase 2
Gene therapy for adults with Pompe disease
This study tests a one-time gene therapy (AB-1009) for adults with late-onset Pompe disease. It aims to see if the treatment is safe and improves muscle and breathing function.
Phoenix, ArizonaAges 18–65 - NCT04639336Recruiting
Pompe disease study of brain and nerve effects
This study looks at how Pompe disease affects the brain and nervous system. You may be able to join if you have a confirmed diagnosis of infantile or late-onset Pompe disease and agree to participate.
Durham, North CarolinaAges birth–18 years - NCT06121011Recruiting
Pompe disease patient registry study
This is a registry study that collects information over time from people with Pompe disease. It helps doctors and researchers better understand the condition and how it affects daily life, without testing any new treatments.
Little Rock, ArkansasAges Any age - NCT01665326Recruiting
Pompe disease screening and follow-up study
This study follows people with Pompe disease over time and checks their “CRIM status,” which is a lab result about a key protein. It may help researchers better understand the disease and how it progresses for different patient groups.
Durham, North CarolinaAges Any age - NCT02399748Recruiting
Long-term study of outcomes in Pompe disease
This study follows people with Pompe disease over a long period to learn how they do over time, especially those receiving enzyme replacement therapy. Your results could help doctors better understand expected outcomes and refine care.
TaipeiAges Any age - NCT07664930Recruiting
Pompe Disease: Nerve and Diaphragm Testing
This study looks at the nerve that controls your diaphragm (the main muscle you use to breathe) in people with Pompe disease. It aims to better understand breathing problems in Pompe and may help guide future care.
PaviaAges 18 years+ - NCT07123155RecruitingPhase 2
Testing a new add-on treatment for late-onset Pompe disease
This trial tests a new medication, S-606001, given alongside your current enzyme replacement therapy (ERT) for late-onset Pompe disease. It may help improve your breathing and walking ability.
Irvine, CaliforniaAges 18 years+ - NCT00231400Recruiting
Pompe disease registry for people with confirmed diagnosis
This trial is a registry, meaning it collects health information from people with confirmed Pompe disease. It may help researchers better understand the disease and improve future treatments.
Birmingham, AlabamaAges Any age - NCT07354724RecruitingPhase 1
Study of DNL952 for adults with late-onset Pompe disease
This trial tests a new drug, DNL952, in adults with late-onset Pompe disease. It aims to see if the drug is safe and how it works in the body, with different groups for people currently on enzyme replacement therapy or those who haven't had it in the past year.
Irvine, CaliforniaAges 18–75 - NCT06391736RecruitingPhase 1/Phase 2
Gene therapy for late-onset Pompe disease
This trial tests a new gene therapy for late-onset Pompe disease. The therapy aims to help your body produce the enzyme needed to break down glycogen, which may improve muscle and breathing function.
BeijingAges 6 years+ - NCT06539169Recruiting
Following people with rare diseases over time
This study follows people with rare diseases over time to learn more about how these conditions progress and how they are treated. Joining may help researchers understand your disease better and find better ways to care for others.
Los Altos, CaliforniaAges Any age - NCT04532047RecruitingPhase 1
Fetal enzyme therapy trial for certain inherited storage disorders
This Phase 1 trial tests an enzyme replacement treatment given to a developing baby before birth for specific inherited “lysosomal storage” diseases. The goal is to see if the treatment is safe and can improve outcomes for babies diagnosed in pregnancy.
San Francisco, CaliforniaAges 18–50 - NCT07136844Recruiting
Walking and arm movement study for nerve and muscle conditions
This study uses motion analysis to understand walking and arm function in adults with certain neurological or metabolic diseases. The goal is to find patterns that help doctors better manage these conditions.
LiègeAges 18 years+ - NCT00567073Recruiting
Register pregnant people with Pompe disease for pregnancy data
This study keeps a special record of pregnancies in people with Pompe disease to learn more about pregnancy outcomes and newborn information. It does not test a drug by itself—it collects health information to improve future care.
Phoenix, ArizonaAges Any age - NCT06666413RecruitingPhase 4
Study of Nexviazyme in children with infantile Pompe disease
This study tests the safety and effects of the enzyme replacement therapy avalglucosidase alfa (Nexviazyme) in children with infantile-onset Pompe disease. It is for children who have had Pompe symptoms since infancy and heart problems at diagnosis.
ShanghaiAges Up to 17 years - NCT03564561Recruiting
Pompe disease study of walking and symptoms over time
This study follows people with Pompe disease to better understand how the disease progresses and how walking function changes. You may help researchers learn what symptoms and test results matter most, without necessarily receiving a new treatment.
Garches, Hauts-de-SeineAges 18–80 - NCT05619900Recruiting
Register people with lysosomal storage diseases
This study is a registry that collects information from people diagnosed with lysosomal storage diseases. It helps researchers better understand these conditions and support future studies.
San Francisco, CaliforniaAges Up to 64 years - NCT06833489Recruiting
Using genetic testing to find answers for rare muscle diseases
This study looks at leftover muscle tissue from people who have had genetic testing for rare muscle diseases but didn't get a clear diagnosis. The goal is to use newer genetic analysis to find the cause of their disease.
MarseilleAges Any age - NCT07478172Recruiting
Electrical muscle stimulation exercise for neuromuscular disease
This study tests whether whole-body electrical muscle stimulation (using small electrodes on the skin) can help adults with certain neuromuscular diseases exercise and improve muscle strength. It may be an option if you can stand for about 15 minutes at a time and have some muscle strength left.
Columbia, MissouriAges 18 years+ - NCT07072676Enrolling by invitation
Can a walker help prevent falls in neuromuscular disease?
This study tests if using assistive walking devices, after a short training period, can lower the risk of falls in people with neuromuscular diseases. It aims to help you stay steady and safe on your feet.
Bad FeilnbachAges 65–65 - NCT05734521Recruiting
Study of avalglucosidase alfa use during pregnancy
This study collects safety information about avalglucosidase alfa when it’s taken during pregnancy and/or while breastfeeding. If you (or your baby) were exposed to this medicine and consent to be in a pregnancy safety registry, your information may help researchers better understand risks.
Bridgewater, New JerseyAges Any age - NCT06605612Enrolling by invitation
Falls risk test for people with muscle and nerve conditions
This study is creating a test to predict falls in people with neuromuscular disorders. You will fill out a questionnaire about your fall risk.
München, BavariaAges 18–65
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Pompe Disease trials by city
Studies with a site in or near these metro areas.
Pompe Disease trials by state
Studies with a site anywhere in these states.
Common questions
- Are there clinical trials for pompe disease?
- Yes. Clin2 currently lists 22 recruiting pompe disease studies from the U.S. registry, each rewritten for real people, not researchers, so you can see what it’s testing and who it’s for.
- How do I know if I qualify for a pompe disease trial?
- Each study lists its eligibility criteria — rules about age, diagnosis, and prior treatments. On every Clin2 trial page we explain these in words written for real people and offer a short, optional pre-screen for a fit read. The study team makes the final decision.
- Does it cost anything to join a pompe disease trial?
- Using Clin2 is always free. Many trials cover the cost of the study treatment and related visits; some reimburse travel. The study team explains exactly what’s covered before you decide.
Related conditions
Clin2 helps you find and understand clinical trials and does not provide medical advice. Study data comes from ClinicalTrials.gov. Talk with your doctor about whether a specific trial is right for you.