What is the ROSSELLA Study?

This is a research study looking into a potential new way to treat children who were diagnosed with infantile-onset Pompe disease, or IOPD. The goal is to see if a combination of 2 study medicines can help and if the combination is safe to use in children with IOPD.

Watch this video to learn about research studies, also called clinical studies, and why they are so important in rare diseases like Pompe disease.

Who can participate?

About 32 children with IOPD are being invited to join the study. There will be 3 groups.

Group 1

Age
6 months to less than 18 years
Treatment history
Enzyme replacement therapy for at least the past 3 months

Colorful birds hatching from eggs and flying away

Group 2

Age
Under 6 months of age
Treatment history
No previous treatment with enzyme replacement therapy

Group 3*

Treatment history
Previously treated with cipaglucosidase alfa/miglustat through an Expanded Access Program

*Group 3 participants will go through Screening and then proceed directly to the Long-Term Extension.

What happens during the study?

The study has 4 periods: Screening, Study Treatment (2 years), Long-Term Extension (2 years), and Follow-up. During each part, there is a schedule of visits to the study clinic.

For children in Group 1 or 2 (no previous treatment with cipaglucosidase alfa/miglustat), participation in the main part of the study may last a little over 2 years. Participation may last a little over 4 years if the child continues through the Long-Term Extension Period.

Children in Group 3 (previously treated with cipaglucosidase alfa/miglustat through an Expanded Access Program) will go through Screening and then proceed directly to the Long-Term Extension. Participation may last a little over 2 years.

Screening

Up to 30 days / At least 1 assessment visit

During this visit, the child will have tests to see if they are eligible for the study. The study doctor will also check to make sure the child does not have any other medical problems or treatments that would make it unsafe for them to be in the study.

Study Treatment

11 assessment visits / 2 years

The child will receive the 2 study medicines every week at the study clinic or at home for 2 years. The study doctor and staff will check the child’s health at scheduled clinic visits.

Long-Term Extension

8 assessment visits / 2 years

If the study doctor feels the child has benefited, the study medicines may be continued for 2 more years.

Follow-up

At least 30 days / At least 1 visit

After the study medicines are stopped, there may be 1 or more visits for final health checks and tests.

Frequently Asked Questions

What are the study medicines?

There are 2 study medicines given on the same day once per week. First, one study medicine is given by mouth. Then, the other study medicine is given as an infusion.

These study medicines can only be given to children with Pompe disease as part of a clinical study. The combination of the study medicines has been approved for adults with Pompe disease in the United States, Europe, and the United Kingdom.

The public listing for this study can be found here.

What kind of health checks and tests will there be?

At study visits, the study doctor will ask questions, give the child a checkup, do tests to monitor the child’s health, and take samples for lab testing.