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This study examines choroid plexus dysfunction in various neurological diseases using biological samples and MRI. It is enrolling patients with LHIPFOLD syndrome, people with neurological conditions such as Alzheimer's disease, multiple sclerosis or amyotrophic lateral sclerosis, and healthy volunteers over 18. It is being run as a study with no assigned phase and is currently recruiting participants.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
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.