What is the AspireToo Study?
This is a clinical study to learn more about treating Fabry disease in children. Watch this video to learn more about clinical studies in general.
Why is the AspireToo Study being done?
This study is evaluating an investigational oral treatment for children ages 2 to 11 who have Fabry disease with specific gene variants.
Doctors want to see if this investigational oral treatment can safely help slow the progression of the disease in young children.
About 7 to 10 children will be enrolled worldwide.
Who can be in the study?
The study is open to children with Fabry disease who meet these and other requirements, which the study doctor will discuss with you.
Age
2 to 11 years
(before 12th birthday)
Genotype
Have an amenable GLA gene variant*
Treatment History
Have never received enzyme replacement therapy (ERT) or have stopped taking ERT at least 14 days before starting the study.
*GLA is the gene that makes the enzyme α-galactosidase. Fabry disease happens when there isn’t enough working enzyme in your body. Having an “amenable variant” means you have a specific version of the gene, or GLA genotype, that the study drug may help. Genotyping will be confirmed as part of the study.
How long is the study?
The study lasts at least 12 months. There are 4 main parts.
Screening Period
14 to 35 days; 1 to 2 visits
You will speak with the study staff about the study and have all your questions answered. If you and your child agree to join, you will sign an Informed Consent Form and your child will sign an Informed Assent Form. Then tests are done to see if your child can be in the study.
Treatment Period
12 months; 7 clinic visits and 7 phone calls
Your child will take the study drug and visit the study clinic for health checks and tests.
Open-Label Extension (optional)
Your child may have the option to continue taking the study drug until it becomes available commercially or through another program; until your child’s participation is ended by you, the study doctor, or the study sponsor; or until the entire study is ended. He or she will continue to come to the study clinic for health checks and tests.
Follow-Up Period
30 days; 1 visit
If your child does not participate in the open-label extension, he or she will have 1 final study visit for safety reasons about 30 days after stopping the study drug.
What is the study drug?
The study drug comes as tablets that are dissolved in water for your child to drink. Depending on the dose, you may need to dissolve 1 or more tablets. Your child will take a dose every other day on an empty stomach.
You will be asked to record the date and time at which your child takes each dose of the study drug in the Dosing Diary provided.
What happens during screening?
Your child will have health checks and tests to see if he or she can be in the study. Your child may need to fast (not eat or drink anything except water) for 2 hours before the clinic visits.
Health and Medication Questions
GLA Genotype Test
Physical Exam
Echocardiogram (Echo)
Electrocardiogram (ECG)
Blood Tests
Urine Test
Pregnancy Test (If Applicable)
What happens at study clinic visits?
During the first month, there will be 3 visits to the study clinic for health checks and tests. For the rest of the year, visits will happen about every 3 months. Visits last 90 to 120 minutes. Not every test listed below will be done at each visit. Between scheduled clinic visits, the study doctor will contact you by phone.
Health and Medication Questions
Dosing Diary Check
Physical Exam
Echocardiogram (ECHO)
Electrocardiogram (ECG)
Tanner Staging (Puberty Assessment)
Blood Tests
Urine Test
Pregnancy Test (If applicable)
Pain and Health Questionnaires
Ready to get started?
Contact a study staff member to learn more about the AspireToo Study at: