Choroid Plexus Dysfunction in Neurological Diseases
Recruiting
N/A
Interventional Study
Plexus Choroideus
Metabolic Syndrome
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
Healthy Volunteers Welcome
You do not need to have the condition being studied to take part.
At a Glance
- Age
- 18 and older
- Sex
- Any
- Study type
- Interventional
- Purpose
- Other
- Participants needed
- 65 (estimated)
- Sponsor
- Assistance Publique - Hôpitaux de Paris · Other
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About This Trial
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 …
Trial Locations
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Eligibility Criteria
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 c…
Contacts