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Understanding Brain Folate Transport Problems in Rare Neurological Diseases

Plain-English translation of NCT06403189 on ClinicalTrials.gov ↗ · Source last updated March 2026 · Translation generated August 2026 ·

What is this trial?

Researchers are studying a rare condition where folate (a crucial B vitamin) doesn't reach the brain properly, even though blood folate levels appear normal. This causes problems with brain white matter (the tissue that helps different brain areas communicate) and other neurological symptoms. By comparing brain scans and cerebrospinal fluid samples from patients with this condition, patients with other brain diseases, and healthy volunteers, scientists hope to understand exactly what goes wrong with the brain's folate transport system.

Some patients have severe neurological problems because their brains cannot properly transport folate, despite having normal folate in their blood. Doctors don't yet understand why this happens or how to fix it. This study aims to identify the physical and chemical signatures of this transport problem so that patients can be diagnosed earlier and future treatments can be developed.

Do you qualify?

You likely qualify if…

you have been diagnosed with or strongly suspected to have LHIPFOLD syndrome (a rare condition with severe brain folate deficiency, high protein in spinal fluid, and white matter changes on brain MRI)
you have been diagnosed with a neurological condition such as Alzheimer's disease, multiple sclerosis, ALS, or certain types of dementia
you are a healthy adult with no chronic medical or neurological conditions
you are 18 years of age or older
you have health insurance coverage or are eligible for the study's insurance plan

You likely don't qualify if…

you are pregnant or breastfeeding
you have metal implants or devices that are incompatible with MRI scans (such as certain heart devices, prostheses, or neurostimulator clips)
you have severe kidney problems or a documented allergy to contrast dye used in MRI
you have blood clotting disorders or take blood-thinning medications that cannot be safely stopped
you have taken folate or vitamin supplements (other than vitamins D and E) in the two months before enrollment

What participation looks like

Participants will undergo a brain MRI scan with contrast dye injection and will have a lumbar puncture (spinal tap) to collect cerebrospinal fluid for analysis. The study compares these results across three groups: patients with LHIPFOLD syndrome, patients with other neurological diseases, and healthy volunteers. Visit duration and frequency are not specified in the available information, but you should expect at least one visit involving both imaging and the spinal fluid collection procedure.

Understanding Brain Folate Transport Problems in Rare Neurological Diseases

What is this trial?

Do you qualify?

What participation looks like

Trial locations(2 sites)