Nörolojik Hastalıklarda Koroid Pleksus İşlev Bozukluğu

Sade dilde özet

Bu çalışma, çeşitli nörolojik hastalıklarda koroid pleksus (choroid plexus) işlev bozukluğunu biyolojik örnekler ve MR görüntüleme (MRI) kullanarak incelemektedir. Çalışmaya LHIPFOLD sendromu olan hastalar, Alzheimer hastalığı (Alzheimer's disease), multipl skleroz (multiple sclerosis) veya amiyotrofik lateral skleroz (amyotrophic lateral sclerosis) gibi nörolojik hastalıkları olan kişiler ve 18 yaş üstü sağlıklı gönüllüler alınmaktadır. Çalışma faz uygulanmayan bir çalışma olarak yürütülmekte ve halen katılımcı almaktadır.

Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.

Deney bilgileri

Faz

Faz dışı

Durum

Katılımcı alıyor

Sponsor

Assistance Publique - Hôpitaux de Paris

Müdahale

Biologic samples and MRI

Başlangıç

20.01.2025

Tahmini bitiş

03.02.2028

Ülkeler

France

İlgili genler

Merkezler

• Paris, France
• Paris, France

Uygunluk kriterleri

Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.

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.