A Prospective Study to Observe & Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Patients ≤6 Months of Age With Infantile-onset Pompe Disease (IOPD)
This study is for babies up to 6 months old who have infantile-onset Pompe disease (IOPD), a serious genetic condition. Doctors want to understand how a specific treatment, called alglucosidase alfa, affects these babies in real-world care. They will check if the treatment helps babies breathe on their own, how it impacts their heart health, growth (like weight and height), and their physical development (like movement). The study will also look at how safe the treatment is and if the babies' bodies react to it in certain ways. This information will help doctors provide the best possible care for babies with Pompe disease.
At a glance
What is this study about?
This study is about a very rare and serious genetic condition called Pompe disease, specifically the type that affects babies from birth, known as infantile-onset Pompe disease (IOPD). Babies with IOPD often have very weak muscles, including those needed for breathing and heart function. This study aims to understand how a particular medicine, called alglucosidase alfa, works for these very young patients (up to 6 months old).
The main goal of the study is to see if babies treated with alglucosidase alfa can breathe without needing a machine (ventilator) for longer. The researchers will follow these babies for about a year to see how many of them are able to breathe on their own. They also want to learn about other important things, like how the treatment affects their heart, overall growth (weight, height, head size), and their ability to move and play (motor skills). They will also check certain markers in their urine.
Another important part of the study is to make sure the treatment is safe for these babies. Doctors will be watching for any side effects and how the babies' immune systems react to the medicine. This information is really important because it helps doctors and parents make informed decisions about the best care for babies with Pompe disease, ultimately hoping to improve their quality of life and health.
Key takeaways
- Studies a treatment (alglucosidase alfa) for babies with infantile-onset Pompe disease.
- Aims to see if treatment helps babies breathe without a ventilator.
- Also checks heart health, growth, development, and safety of the medicine.
- Observational study – treatment is part of routine care, not provided by the study.
- Follows babies for about two years.
- Helps doctors learn more about the best care for babies with Pompe disease.
Who may be eligible?
To join this study, a baby must be 6 months old or younger, with their age adjusted if they were born early. They need to have a confirmed diagnosis of infantile-onset Pompe disease (IOPD), which means special tests have shown they have the condition and a specific problem with a gene.
Your baby must already be planned to receive the alglucosidase alfa treatment, or have just started it, as part of their regular care – this study isn't about deciding if they get the treatment, but rather observing its effects. They also need to have heart problems related to Pompe disease at the time they were diagnosed. Doctors will need access to your baby's medical records.
Babies cannot join if they are already having severe breathing problems, like needing constant oxygen or if their oxygen levels are too low, as this study focuses on less critical cases at the start.
Could this study suit you?
Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.
- Is your baby 6 months old or younger (adjusted for early birth)?
- Does your baby have a confirmed diagnosis of infantile-onset Pompe disease?
- Is your baby already planned to receive or just starting alglucosidase alfa treatment?
- Does your baby have heart problems related to Pompe disease?
- Are your baby's medical records available and accessible?
- Is your baby not currently experiencing severe breathing problems (e.g., very low oxygen levels)?
What does participation involve?
If your baby takes part in this study, they will be observed for about two years after they join. During this time, the medical team will continue your baby's routine care with alglucosidase alfa as planned, which involves regular infusions of the medicine. The study will involve collecting information from your baby's medical records from their regular doctor visits and tests.
These regular check-ups will include looking at things like your baby's heart health, growth (like weight, height, and head size), how well they are moving (motor skills), and specific urine tests. The doctors will also carefully monitor your baby for any side effects of the treatment and how their body reacts to the medicine. The study uses information from tests that are already part of routine care for Pompe disease; there aren't many extra tests purely for the study. The total observation period for each child will be around 104 weeks, which is about two years.
Potential risks and benefits
Locations (15)
- Advanced Medical Genetics- Site Number : 8400002Verified postcodeHawthorne, United States
- Duke University Medical Center- Site Number : 8400004Verified postcodeDurham, United States
- Cincinnati Children's Hospital Medical Center- Site Number : 8400001Verified postcodeCincinnati, United States
- Le Bonheur Children's Hospital- Site Number : 8400005Verified postcodeMemphis, United States
- Seattle Children's Hospital- Site Number : 8400003Verified postcodeSeattle, United States
- Investigational Site Number : 0560001Verified postcodeLeuven, Belgium
- Investigational Site Number : 2500001Verified postcodeTours, France
- Investigational Site Number : 2760001Verified postcodeGiessen, Germany
- Investigational Site Number : 3800002Verified postcodeMonza, Italy
- Investigational Site Number : 3800001Verified postcodeFlorence, Italy
- Investigational Site Number : 5280001Verified postcodeRotterdam, Netherlands
- Investigational Site Number : 7240001Verified postcodeEsplugues de Llobregat, Spain
Common questions
What is Pompe disease?
Pompe disease is a rare genetic condition where the body can't break down a complex sugar, leading to a build-up in cells, especially muscle cells, causing weakness in the heart and other muscles.
What is alglucosidase alfa?
Alglucosidase alfa is a medicine that replaces the missing enzyme in people with Pompe disease, helping their bodies break down the sugar that builds up in their cells.
Will my baby get extra tests because of the study?
The study mainly uses information that's already collected during your baby's usual doctor visits and tests for Pompe disease. There shouldn't be many, if any, additional tests just for the study.
How long will my baby be in the study?
Your baby will be observed for about two years (104 weeks) after they join the study.
Who is paying for this study?
The study sponsor, whose details would be provided by your doctor, is funding this research.
How to find out more
Always speak to your GP or specialist before deciding to take part in a study.
Discussion
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