A Study to Evaluate Seroprevalence of Antibodies to AAV8 and Assessment of Biomarkers in Patients With Late-Onset Pompe Disease

Status: Active_not_recruiting
Location: See all (54) locations...
Intervention Type: Other
Study Type: Interventional
Study Phase: Not Applicable
SUMMARY

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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 16
Maximum Age: 69
Healthy Volunteers: f
View:

• Participant has a documented clinical diagnosis of LOPD.

• Participant is enzyme replacement therapy ERT-naïve (ERT-N) or if the participant is currently taking an approved ERT treatment or is participating in an ERT-interventional study, the ERT must have been received for at least 6 months or more (ERT-experienced \[ERT-E\]).

• Participant is willing and able to comply with study visits and procedures.

• Participant agrees to not start participating in any other clinical study involving an investigational study treatment, including ERT, while participating in this study.

Locations
United States
California
University of California Irvine
Irvine
Georgia
Emory Clinic
Atlanta
Kansas
University of Kansas Medical Center
Kansas City
Michigan
University of Michigan
Ann Arbor
Minnesota
Children's Hospitals and Clinics of Minnesota
Minneapolis
New Jersey
Hackensack University Medical Center
Hackensack
Ohio
University of Cincinnati
Cincinnati
Pennsylvania
University of Pennsylvania
Philadelphia
University of Pittsburgh Medical Center
Pittsburgh
Utah
University of UTAH - PPDS
Salt Lake City
Virginia
Lysosomal and Rare Diseases Research and Treatment Center, Inc.
Fairfax
Other Locations
Australia
AU61003
Adelaide
AU61001
Herston
Brazil
BR55003
Flamengo
BR55002
Porto Alegre
BR55001
São Paulo
Canada
CN15003
Edmonton
CA15001
Montreal
France
FR33006
Angers
FR33009
Garches
FR33005
Lille
FR33007
Limoges
FR33002
Marseille
FR33003
Nantes
FR33004
Nice
FR33001
Strasbourg
Germany
DT49005
Bonn
DT49004
Essen
DT49003
Höchheim
DT49006
Münster
Italy
IT39002
Florence
IT39005
Gussago
IT39012
Messina
IT39009
Milan
IT39011
Milan
IT39008
Pavia
IT39006
Pisa
IT39004
Roma
IT39003
Udine
Japan
National Center of Neurology and Psychiatry
Kodaira-shi
Tokyo Women's Medical University Hospital
Shinjuku-ku
Spain
ES34003
Albacete
ES34004
Barcelona
ES34009
Donostia / San Sebastian
ES34007
L'hospitalet De Llobregat
ES34001
Madrid
ES34005
Madrid
ES34002
Valencia
Taiwan
TW88601
Taipei
TW88602
Taipei
TW88603
Taoyuan
United Kingdom
UK44003
Cambridge
UK44001
Newcastle Upon Tyne
UK44004
Salford
Time Frame
Start Date: 2024-02-01
Completion Date: 2027-06-30
Participants
Target number of participants: 119
Treatments
Other: Participants with Late-Onset Pompe Disease
Adolescent or adult participants with LOPD.
Related Therapeutic Areas
Sponsors
Leads: Astellas Gene Therapies

This content was sourced from clinicaltrials.gov