A Prospective Study of Pediatric Participants up to 16 Years of Age With Methylmalonic Acidemia (MMA) Due to Mutations in the MMUT Gene
This study is for children up to 16 years old who have a rare condition called methylmalonic acidemia (MMA). MMA happens when the body can't properly turn food into energy, causing a harmful substance called methylmalonic acid to build up. This condition affects about 1 in 100,000 babies and can cause problems with the liver, brain, and kidneys. Most children with MMA have a faulty gene called MMUT. This study aims to gather information over time about how MMA develops and what signs (like blood test results) reliably show how active the disease is. This information is crucial for future research to find and test new treatments for children with severe MMA, including those who have had a liver transplant.
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De quoi parle cette étude ?
This study focuses on a rare condition called methylmalonic acidemia, or MMA, which affects how a child's body uses food for energy. Normally, our bodies have special proteins, called enzymes, that help break down food. In MMA, a key enzyme is either missing or doesn't work well because of a change in a specific gene called MMUT. This means that certain parts of proteins and fats from food can't be broken down properly. Instead, a harmful substance builds up in the body, which can cause serious health problems.
MMA can impact important organs like the liver, brain, and kidneys, and can lead to issues with growth and development. It can also cause dangerous acid levels in the blood. Because MMA is different for each child, with some having more severe symptoms than others, doctors and researchers want to understand it better. This study is an 'observational study,' which means the researchers will carefully watch and collect information about children with MMA over time, without giving them new treatments.
The main goal is to figure out which signs and blood test results can reliably show how active MMA is in a child. This information is really important because it will help future studies decide if new treatments are actually working. By carefully tracking children with MMA, researchers hope to gain valuable insights that will pave the way for more effective ways to manage and treat this challenging condition.
Points clés
- This study is for children (up to 16 years old) with a rare condition called methylmalonic acidemia (MMA).
- MMA means the body has trouble breaking down certain foods, leading to harmful buildup.
- The study wants to find reliable ways to measure how active MMA is, to help develop future treatments.
- It's an 'observational study,' meaning no new treatments are given; researchers just collect information.
- Children must have a severe form of MMA, whether they have had a liver transplant or not.
- Participation involves regular check-ups and blood tests.
Qui peut être éligible ?
This study is looking for children aged 16 years or younger who have been diagnosed with a specific type of methylmalonic acidemia (MMA) caused by changes in the MMUT gene. They can be children who have had a liver transplant (or liver and kidney transplant) or those who haven't.
To be considered for the study, children must have a 'severe' form of MMA. If a child hasn't had a transplant, this means they need to have high levels of a substance called methylmalonic acid in their blood, have needed urgent medical care or a special diet for illness in the last year, and their doctors believe a liver transplant might be needed in the future to help manage their condition.
If a child has already had a liver or combined liver and kidney transplant, their doctors will judge if their condition was severe before the transplant. This would mean very high methylmalonic acid levels before the transplant (within 6 months) and that the transplant was done to help stabilise their condition. This study is not for children with other types of MMA or other complex medical issues.
Cet étude pourrait-elle vous convenir ?
Répondez à ces questions rapides pour voir si vous êtes éligible. Ceci est un guide uniquement — l'équipe de recherche prend la décision finale.
- Is your child 16 years old or younger?
- Has your child been diagnosed with methylmalonic acidemia (MMA) caused by a change in their MMUT gene?
- Does your child have a severe form of MMA?
- Has your child had very high levels of methylmalonic acid in their blood in the past?
- Have doctors considered a liver transplant for your child, or have they already had one to help manage their MMA?
En quoi consiste la participation ?
If your child joins this study, they will be observed over a period of time. This means the researchers will collect information about their MMA, but they won't be given any new medications or treatments as part of the study. Your child will have regular check-ups, which will include blood tests and possibly other assessments, to track their health and how their MMA is progressing. The details about how many visits are needed and for how long the study lasts will be explained by the study team. This is about gathering information, not testing a new drug, so the focus is on understanding the natural course of the condition and identifying reliable ways to measure its activity.
Risques et avantages potentiels
Emplacements (8)
- CHOP (Children's hospital of Philadelphia)Code postal vérifiéPhiladelphie, États-Unis· Pas encore en recrutement
- UPMC (Children's hospital of Pittsburgh)Code postal vérifiéPittsburgh, United States· Pas encore en recrutement
- OSR_San RaffaeleCode postal vérifiéMilan, Italie· Pas encore en recrutement
- OBGP (Bambino Gesu Ospedale Pediatrico)Code postal vérifiéRoma, Italy· Pas encore en recrutement
- SJD_San Joan de Deù Children's HospitalCode postal vérifiéBarcelona, Spain· Pas encore en recrutement
- Hospital Universitario 12 de OctubreCode postal vérifiéMadrid, Spain· Pas encore en recrutement
- GOSH NHS (Great Ormond Street Hospital for Children)Code postal vérifiéLondres, Royaume-Uni· Recrutement
- Saint Mary's HospitalCode postal vérifiéManchester, Royaume-Uni· Pas encore en recrutement
Questions fréquentes
What is MMA?
MMA (methylmalonic acidemia) is a rare problem where a child's body can't properly break down parts of food, leading to a harmful buildup of a substance that can affect organs like the brain, liver, and kidneys.
Quel est l'objectif de cette étude ?
The study aims to understand how MMA develops over time and to identify reliable signs and blood tests that can show how active the disease is. This information will help develop new treatments in the future.
Will my child receive new medicine in this study?
No, this is an observational study. Your child won't receive new medicines or treatments as part of this study. Researchers will only collect information about their condition.
Qui peut participer à cette étude ?
Children aged 16 or younger with a specific, severe type of MMA caused by a change in the MMUT gene. This includes children who have or haven't had a liver transplant.
What does taking part involve?
Taking part involves regular check-ups and blood tests to monitor your child’s health and the progression of their MMA. The study team will provide more details about the schedule.
Comment en savoir plus
Gwenaelle roguet, MD
Parlez toujours à votre médecin généraliste ou spécialiste avant de décider de participer à une étude.
Intéressé à participer ?
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