Astellas Gene Therapies
Pompe disease is a genetic condition which causes muscle weakness over time. People with Pompe disease have a faulty gene that makes an enzyme called acid alpha-glucosidase (or GAA). This enzyme breaks down a type of sugar called glycogen. Without this enzyme, there is a build-up of glycogen in the cells of the body. This causes muscle weakness and other symptoms. Pompe disease can happen at any age, but in late-onset Pompe disease, symptoms generally start from 12 months old onwards. The standard treatment for people with Pompe disease is to receive regular infusions of the GAA enzyme. This is known as enzyme replacement therapy. However, people can build up antibodies against the GAA enzyme over time. Gene therapy is used to treat conditions caused by a faulty gene. It works by replacing the faulty gene with a working gene inside the cells of the body. The working gene is delivered into the cells using certain viruses as carriers (vectors). Viruses are often used as carriers as they can easily get inside cells. The genetic material of the original virus is replaced with the working gene, so only the working gene gets inside the cells. A common virus used as a carrier in gene therapy is the adeno-associated virus (or AAV). This is like an adenovirus, which causes the common cold. The original type of AAV does not cause any harm to humans. However, people that have previously been infected with the original type of AAV may have built up antibodies against AAV. These antibodies may stop the AAV carrier with the working gene getting inside the cells. Researchers want to learn more about antibody levels against AAV and the GAA enzyme in people with late-onset Pompe disease. They also want to learn about other substances in the blood that provide more information about late-onset Pompe disease. These are known as biomarkers. In this study, older teenagers and adults with late-onset Pompe disease will take part. They will not have had gene therapy using AAV. There will be 2 groups - those who have never had enzyme replacement therapy, and those who have had enzyme replacement therapy for 6 months or more. No study treatment will be given during the study, but blood and urine samples will be taken for testing. The main aims of the study are to check antibody levels against AAV8 (a type of AAV) in people with late-onset Pompe disease who had not received any treatment using AAV, to check antibody levels against the GAA enzyme in people previously treated with GAA as part of enzyme replacement therapy, to check levels of biomarkers for Pompe disease, and to check for medical problems. In the study, people will visit the study clinic several times. Some visits may be in the person's home. The first visit is to check if they can take part. Those who can take part will have a medical examination, and have their vital signs checked. Vital signs include blood pressure, heart rate, breathing rate and temperature. Blood samples will be taken to check antibody levels against the GAA enzyme and against AAV8. Blood and urine samples will also be taken to check for biomarkers for Pompe disease. Blood and urine samples will be taken about every 4 months for up to 2 years.
Pompe Disease (Late-onset)
No Intervention
NA
No investigational drug will be administered to participants in this study. Blood and urine will be collected as part of the study. The duration of the study is approximately 2 years, participants may withdraw at any time.
| Study Type : | INTERVENTIONAL |
| Estimated Enrollment : | 100 participants |
| Masking : | NONE |
| Primary Purpose : | OTHER |
| Official Title : | A Study to Evaluate Seroprevalence of Antibodies to AAV8 and Assessment of Biomarkers in Patients With Late-Onset Pompe Disease |
| Actual Study Start Date : | 2024-02-01 |
| Estimated Primary Completion Date : | 2027-05-31 |
| Estimated Study Completion Date : | 2027-05-31 |
Information not available for Arms and Intervention/treatment
| Ages Eligible for Study: | 16 Years to 69 Years |
| Sexes Eligible for Study: | ALL |
| Accepts Healthy Volunteers: |
Want to participate in this study, select a site at your convenience, send yourself email to get contact details and prescreening steps.
RECRUITING
University of California Irvine
Irvine, California, United States, 92868
RECRUITING
Emory Clinic
Atlanta, Georgia, United States, 30322
RECRUITING
University of Kansas Medical Center
Kansas City, Kansas, United States, 66160
RECRUITING
University of Michigan
Ann Arbor, Road cancer, United States, 48109
ACTIVE NOT RECRUITING
Children's Hospitals and Clinics of Minnesota
Minneapolis, Minnesota, United States, 55404
RECRUITING
Hackensack University Medical Center
Hackensack, New Jersey, United States, 07601
RECRUITING
University of Cincinnati
Cincinnati, Ohio, United States, 45221
RECRUITING
University of Pennsylvania
Philadelphia, Pennsylvania, United States, 19104
RECRUITING
University of Pittsburgh Medical Center
Pittsburgh, Pennsylvania, United States, 15213
RECRUITING
Lysosomal and Rare Diseases Research and Treatment Center, Inc.
Fairfax, Virginia, United States, 22030
RECRUITING
AU61003
Adelaide, Australia,
RECRUITING
AU61001
Herston, Australia,
ACTIVE NOT RECRUITING
BR55002
Porto Alegre, Brazil,
RECRUITING
CN15003
Edmonton, Canada,
RECRUITING
CA15001
Montreal, Canada,
RECRUITING
Fr333006
Angers, France,
RECRUITING
Branch 009
Germ, France,
RECRUITING
FR33005
Lille, France,
RECRUITING
007 branch
Limoges, France,
RECRUITING
Branch 002
Marseille, France,
RECRUITING
Branch 003
Nantes, France,
RECRUITING
Fr333004
Nice Cedex 3, France,
RECRUITING
FR33001
Strasbourg, France,
RECRUITING
DT49005
Bonn, Germany,
RECRUITING
DT49004
Essen, Germany,
RECRUITING
DT 49003
High home, Germany,
RECRUITING
DT49006
Münster, Germany,
ACTIVE NOT RECRUITING
Ontin 002
Firenze, Italy,
RECRUITING
IT39005
Gussago, Italy,
RECRUITING
IT39012
Messina, Italy,
RECRUITING
Oppishes 009
Milano, Italy,
RECRUITING
IT39011
Milano, Italy,
RECRUITING
Oppishes 008
Pavia, Italy,
RECRUITING
IT39006
Pisa, Italy,
RECRUITING
IT39004
Roma, Italy,
RECRUITING
National Center of Neurology and Psychiatry
Mr. Kodaira, Japan,
RECRUITING
Tokyo Women's Medical University Hospital
Shinjuku Ward, Japan,
RECRUITING
ES34003
Albacete, Spain,
ACTIVE NOT RECRUITING
ES34004
Barcelona, Spain,
WITHDRAWN
ES34006
Barcelona, Spain,
RECRUITING
Es34007
L'Hospitalet de Llobregat, Spain,
RECRUITING
ES34001
Madrid, Spain,
RECRUITING
ES34005
Madrid, Spain,
ACTIVE NOT RECRUITING
It can accommodate 4009
San Sebastian, Spain,
RECRUITING
Es34002
Valencia, Spain,
RECRUITING
TW88601
Taipei, Taiwan,
RECRUITING
TW88602
Taipei, Taiwan,
ACTIVE NOT RECRUITING
TW88603
Taoyuan City, Taiwan,
RECRUITING
UK44003
Cambridge, United Kingdom,
RECRUITING
UK44001
Newcastle upon Tyne, United Kingdom,
RECRUITING
UK44004
Salford, United Kingdom,