Actively Recruiting
Choroid Plexus Dysfunction in Neurological Diseases
Led by Assistance Publique - Hôpitaux de Paris · Updated on 2026-03-06
65
Participants Needed
2
Research Sites
158 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Cerebral folate deficiency (CFD), a partially treatable condition defined by a low folate cerebrospinal fluid (CSF) concentration, can be linked to genetic defects of folate metabolism or be secondary to various diseases without clear causal link. The team identified a neurological syndrome (named LHIPFOLFD) characterized by deep CFD and a specific leukoencephalopathy, related to several possible gene defects never involving folate metabolism. The team hypothesize that CFD in LHIPFOLD is due to a Choroid Plexus (CP) dysfunction, a brain organ that expresses transporters regulating flux between blood and CSF of numerous metabolites (including folate), and secretes CSF and specific proteins. Consequently, other potentially treatable biochemical abnormalities due to PC dysfunction may exist in LHIPFOLD, beyond CFD. Currently, there is no available clinical explorations to evaluate CP functions, whereas the team consider LHIPFOLD a very useful model to validate the capacity of some relevant diagnostic tools to do so. The objectives are to identify a CP-related MRI and biochemical signature in LHIPFOLD patients, using morphological and functional imaging (CP capillary permeability and CP macrovascular perfusion), and metabolomics/proteomics approaches (untargeted then targeted validation of candidate biomarkers related to CP physiology); and to set-up imaging and biochemical diagnostic tests for clinical practice. For this, brain MRI data and blood/CSF samples will be collected during 2 years from LHIPFOLD patients and controls. Some experimental data indicate that the innovative concept of generalized PC dysfunction as part of a more global pathophysiology has the potential to be applied to other neurological diseases like Alzheimer's disease. Therefore, efficient diagnostic tools exploring CP function will be of great utility not only in LHIPFOLD but also in more common neurological diseases, potentially leading to original therapeutic approaches.
CONDITIONS
Official Title
Choroid Plexus Dysfunction in Neurological Diseases
Who Can Participate
Eligibility Criteria
You may qualify if you...
- For LHIPFOLD patients: suspicion or diagnosis documented by severe 5MTHF deficiency (<10 nmol/L), high CSF protein (>1 g/L), and white matter abnormalities on MRI
- Covered by Social Security, Complementary Health Insurance, or equivalent
- For Neurological Controls: no chronic renal, cardiac, pulmonary, or hepatic disease
- Diagnosis or strong suspicion of Alzheimer's disease, multiple sclerosis, amyotrophic lateral sclerosis, intracranial hypertension, normal pressure hydrocephalus, or frontotemporal dementia
- For Healthy Volunteers: no chronic renal, cardiac, pulmonary, hepatic, or psychiatric disease
- No history of neurological pathology
- No chronic alcohol use
- No toxic substance use in the week before inclusion
- No neurological or psychotropic medication use
You will not qualify if you...
- Age under 18 years
- Pregnant or breastfeeding women
- Unable to give informed consent
- Contraindications to MRI: implantable cardiac defibrillators, prostheses, transdermal patches, catheters, implantable pumps, artificial heart valves, deafness implants incompatible with MRI, neurostimulator clips, pregnancy, extreme claustrophobia
- Contraindications to contrast injection: allergy to gadolinium, severe renal insufficiency, pregnancy, breastfeeding
- Contraindications to lumbar puncture: bleeding disorders, brain mass syndrome, infection near puncture site, coagulopathy, cardiopulmonary insufficiency, respiratory distress
- For Neurological Controls and Healthy Volunteers: under legal protection
- Not covered by Social Security, Complementary Health Insurance, or equivalent (excluding AME)
- Use of folate, vitamin C, or vitamin-containing dietary supplements (except vitamins D and E) in the two months prior to inclusion
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 2 locations
1
CIC Neurosciences
Paris, France, 75013
Actively Recruiting
2
Service de Neurologie, Pitié-Salpêtrière
Paris, France, 75013
Actively Recruiting
Research Team
Y
Yann NADJAR, MD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
OTHER
Number of Arms
1
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