Take an amino acid supplement being tested for rare genetic brain disorders

Recruiting

What is this trial?

This trial is testing L-serine, an amino acid supplement, in patients with GRIN-related neurodevelopmental disorders—rare genetic conditions that affect how brain cells communicate and can cause seizures, learning difficulties, and developmental delays. The study uses a special design where each participant receives both the medication and a placebo (inactive powder) in alternating periods, and researchers compare how they work for each individual. Early studies suggest this treatment may help restore some brain function in people with these specific genetic mutations.

People with GRIN-related disorders have genetic changes that reduce how well their brain cells communicate, leading to seizures and developmental problems. Previous small studies suggest this treatment might help, but we need larger, carefully controlled studies to confirm whether it actually works and is safe.

Do you qualify?

You likely qualify if…

you have been clinically diagnosed with a GRIN-related neurodevelopmental disorder
you have a confirmed genetic change (pathogenic variant) in one of four specific genes: GRIN1, GRIN2A, GRIN2B, or GRIN2D
you are at least 2 years old
your parent, caregiver, or legal guardian consents to your participation and is willing to attend study visits
if you have previously taken L-serine supplements, you are willing to stop taking them for at least one week before the study begins

You likely don't qualify if…

you are younger than 2 years old at the time of screening
you have a known allergy or sensitivity to L-serine or any ingredient in the study formulations
you have another serious medical condition (besides epilepsy) that could make the study unsafe or prevent you from participating
you are pregnant or breastfeeding
you have participated in another clinical trial testing an investigational drug within the past 6 months

What participation looks like

You will start with a baseline observation period where researchers collect information about your current symptoms and condition. Then you will enter repeated treatment cycles where you take either the L-serine supplement or a placebo (which looks identical) for set periods, with the order randomly assigned by a computer. Neither you nor your research team will know which is which until the study ends. Throughout the study, you will have regular visits to report how you are doing, and researchers will track any changes in your symptoms, seizures, behavior, and overall functioning.

Testing an amino acid supplement for rare genetic brain disorders

What is this trial?

Do you qualify?

What participation looks like

Trial locations(3 sites)