Brain fluid mystery: new study aims to spot hidden dysfunction
NCT ID NCT06403189
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study looks at people with a rare condition called cerebral folate deficiency, where the brain lacks enough folate. Researchers think the problem may be in the choroid plexus, a part of the brain that helps control what goes in and out of brain fluid. They will use MRI scans and blood/fluid tests to find signs of this dysfunction, which could help diagnose and treat other brain diseases later.
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Study facts
What this study's own registry entry says, in plain language.
- Phase
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Not a phased trial
Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.
- Participants
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About 65 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Jan 2025
- Expected to finish
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Feb 2028
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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18 years and older
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: For LHIPFOLD patients: * Suspicion of diagnosis or diagnosis of LHIPFOLD syndrome documented in the medical record, i.e. presence of these three manifestations: severe intrathecal deficiency in 5MTHF\< 10 nmol/L, hyperproteinorachia \> 1 g/L, and white matter abnormalities on cerebral MRI. * Patient covered by Social Security or Complementary Health Insurance or any equivalent scheme (including AME). For Neurological Controls (NC) : * No chronic pathology (notably no renal, cardiac, pulmonary or hepatic disease) * Patients with one of the following neurological pathologies (confirmed diagnosis or strong suspicion), investigated in the course of routine clinical practice: Alzheimer's disease, multiple sclerosis, amyotrophic lateral sclerosis, intracranial hypertension, normal pressure hydrocephalus, frontotemporal dementia. For Healthy Volunteers (VS): * No chronic pathology (in particular, no renal, cardiac, pulmonary, hepatic or psychiatric disease) * No history of neurological pathology * No chronic alcohol intoxication * No consumption of toxic substances in the week preceding the inclusion visit * No neurological or psychotropic medication. Exclusion Criteria: For all research participants: * Age \<18 * Pregnant and breast-feeding women. * Participant unable to give informed consent. * Participant with a contraindication to MRI: implantable cardiac defibrillators, prostheses, transdermal patches, catheters; implantable pumps; artificial heart valves; implants to treat deafness (if incompatible with MRI); surgical neurostimulator clips., pregnancy, extreme claustrophobia. * Participants with contraindications to contrast injection: known allergy to gadolinium chelates, severe renal insufficiency, pregnancy (BHCG for women of childbearing age prior to MRI), breast-feeding. * Participants with contraindications to LP: haemostasis abnormalities (PT\<50%, platelets \< 40\*109/L), mass syndrome on brain imaging, suspected infection at or near the needle insertion site, coagulopathy, cardiopulmonary insufficiency or respiratory distress. For NC and VS : * Participant under legal protection (guardianship, curatorship) * Participant not covered by Social Security or Complementary Health Insurance or any equivalent scheme (excluding AME). * Taking folate, vitamin C or dietary supplements containing vitamins (excluding vitamin D and E) in the two months prior to inclusion.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
2 sites. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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CIC Neurosciences
RECRUITINGParis, 75013, France
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Service de Neurologie, Pitié-Salpêtrière
RECRUITINGParis, 75013, France
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