Active not recruitingPHASE3INTERVENTIONAL

A Study to Evaluate the Efficacy and Safety of Mitapivat in Pediatric Participants With Pyruvate Kinase Deficiency (PKD) Who Are Regularly Transfused, Followed by a 5-Year Extension Period

This research is investigating a new medication, Mitapivat, for children and teenagers aged 1 to 17 who have a rare inherited blood condition called Pyruvate Kinase Deficiency (PKD). These young people regularly need blood transfusions. The study wants to find out if Mitapivat is safe and effective in helping them, by comparing it to a placebo (a dummy medicine with no active ingredients). Participants will take either Mitapivat or the placebo for a period, and then everyone will have the chance to take Mitapivat for a longer time. The main goal is to see if this new medicine can improve the health of children with PKD who rely on transfusions.

At a glance

Status

Active not recruiting

Phase

PHASE3

Sponsor

Agios Pharmaceuticals, Inc.

Enrolment target

Start

08 Jun 2022

Estimated completion

01 Jun 2029

Pediatric Pyruvate Kinase Deficiency Pediatric Hemolytic Anemia

What is this study about?

This study is about a condition called Pyruvate Kinase Deficiency (PKD), which is a rare genetic blood disorder. In PKD, the body's red blood cells break down too quickly, leading to anaemia. For many children with PKD, their bodies can't make enough healthy red blood cells, which means they often need regular blood transfusions to stay healthy. This study is testing a new medicine called Mitapivat.

The main aim of this research is to see if Mitapivat can help children and teenagers with PKD who regularly receive blood transfusions. They want to find out if the medicine is safe to use in this age group and if it can reduce the need for transfusions or improve their overall health. The study will compare Mitapivat to a 'placebo', which looks exactly like the medicine but contains no active ingredients. This helps researchers truly understand if any changes are due to the medicine itself.

After an initial period where participants receive either Mitapivat or the placebo, everyone who completes this part of the study will have the opportunity to receive Mitapivat for a longer time. This means that if it's found to be helpful, more children could benefit from it in the future. The study is especially important because it's focusing on children who need frequent transfusions, aiming to find new ways to manage their condition.

Key takeaways

This study is for children aged 1-17 with Pyruvate Kinase Deficiency (PKD).
It's exploring a new medicine called Mitapivat for children who need regular blood transfusions.
Participants will be randomly assigned to Mitapivat or a placebo at first.
The study aims to check the safety and effectiveness of Mitapivat.
All participants who complete the initial phase can continue with the active drug in a longer-term part of the study.

Who may be eligible?

To join this study, children and teenagers generally need to be between 1 and 17 years old. If they are very young (between 12 and 24 months), they must weigh at least 7 kilograms.

They must have a clear diagnosis of Pyruvate Kinase Deficiency (PKD), confirmed by genetic tests showing specific changes in their genes. Importantly, they must have needed regular blood transfusions in the year before joining the study, specifically between 6 and 26 transfusions in the previous 52 weeks.

Participants also need to be taking folic acid supplements, which is common for people with PKD. For female participants who have started puberty (menarche or breast development Tanner Stage 2), they must either be abstinent or agree to use two types of birth control during the study and for 28 days afterwards to prevent pregnancy.

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 child aged between 1 and 17 years old?
Does your child have a confirmed diagnosis of Pyruvate Kinase Deficiency (PKD) from genetic tests?
Has your child received between 6 and 26 blood transfusions in the last year?
Does your child currently take folic acid supplements?
If your child is a girl who has started puberty, can she follow the birth control requirements?

Answer every question to see your result.

What does participation involve?

If you decide to take part, you'll first have to agree in writing, and any child involved will also need to agree if they're old enough. You'll then be randomly assigned, like flipping a coin, to either receive the study medicine (Mitapivat) or a dummy medicine (placebo). Two out of every three participants will get the study medicine.

For the first 8 weeks, doctors will figure out the right dose based on the child's age and weight. After that, the child will take a fixed dose for 24 weeks. Neither you nor your study doctor will know whether the child is getting the actual medicine or the placebo during this initial period.

Throughout the study, there will be regular hospital visits for check-ups, blood tests, and to make sure the medicine is working and is safe. If you complete this first part, you'll then have the chance to take the actual Mitapivat medicine for a longer period in an 'open-label' phase, meaning everyone will know what they're taking. The total duration of participation could be several years.

Potential risks and benefits

Taking part in a study like this might have potential benefits. If Mitapivat works, it could improve your child's health by reducing the need for blood transfusions or making their anaemia better. However, there are also potential risks, as with any new medicine. There could be side effects, which the study team will monitor closely and explain in detail. You are free to withdraw from the study at any time, for any reason, without it affecting your child's future medical care.

Locations (22)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

Phoenix Children's Hospital
Verified postcode
Phoenix, United States
Stanford Medicine
Verified postcode
Palo Alto, United States
Children's Healthcare of Atlanta - Emory
Verified postcode
Atlanta, United States
Boston Children's Hospital
Verified postcode
Boston, United States
Cure 4 the Kids Foundation, A Division of Roseman University of Health Sciences
Verified postcode
Las Vegas, United States
Weill Cornell Medical College
Verified postcode
New York, United States
Children's Hospital of Philadelphia
Verified postcode
Philadelphia, United States
UT Southwestern Medical Center
Verified postcode
Dallas, United States
Texas Children's Hospital
Verified postcode
Houston, United States
Comprehensive Hemophilia Care Clinic at CHEO (Children's Hospital Eastern Ontario)
Verified postcode
Ottawa, Canada
Fakultní Nemocnice Olomouc
Verified postcode
Olomouc, Czechia
Aarhus University Hospital
Verified postcode
Aarhus, Denmark

Common questions

What is Pyruvate Kinase Deficiency (PKD)?

PKD is a rare genetic condition where red blood cells break down too quickly, leading to anaemia and often requiring blood transfusions.

What is Mitapivat?

Mitapivat is a new investigational medicine being tested to see if it can help improve red blood cell health in people with PKD.

What is a 'placebo'?

A placebo is a dummy medicine that looks just like the real medicine but contains no active ingredients. It helps researchers safely compare the real medicine's effects.

Will I know if my child is taking the real medicine or the placebo?

For the first part of the study, neither you nor the study doctors will know. This is called 'double-blind'. After this, everyone gets the real medicine.

How long will the study last?

The initial part is about 8 months (8 weeks dose finding + 24 weeks fixed dose). After this, participants can join an extension study where they all receive Mitapivat, which could last several years.