RecruitingNAINTERVENTIONAL

Choroid Plexus Dysfunction in Neurological Diseases

This research is investigating a brain condition called Cerebral Folate Deficiency (CFD), where there isn't enough folate (a type of vitamin B) in the brain. Specifically, it's focusing on a new syndrome called LHIPFOLD, where patients have CFD along with other brain changes. Researchers believe that in LHIPFOLD, a small but important part of the brain called the choroid plexus (CP) might not be working as it should. The CP helps control what gets into the brain and spinal fluid. Using special MRI scans and by studying samples of blood and spinal fluid, the team hopes to find unique signs of CP problems. This could lead to a better understanding and new ways to diagnose and treat LHIPFOLD, and potentially other brain conditions like Alzheimer's disease in the future. The study involves collecting brain scans and samples over two years.

At a glance

Status

Recruiting

Phase

Sponsor

Assistance Publique - Hôpitaux de Paris

Enrolment target

Start

20 Jan 2025

Estimated completion

03 Feb 2028

Plexus Choroideus Metabolic Syndrome

What is this study about?

This research is about a problem where the brain doesn't have enough of an important vitamin called folate. This condition is known as Cerebral Folate Deficiency, or CFD. Folate is crucial for healthy brain function. Sometimes, CFD happens because of specific genetic problems, but other times, the cause isn't clear.

The researchers have identified a new condition they've named LHIPFOLD. People with LHIPFOLD have severe CFD, along with high levels of protein in their spinal fluid and specific changes in their brain scans. Even though the folate levels in their blood are normal, their brains aren't getting enough. The team believes that in LHIPFOLD, a tiny but very important part of the brain called the Choroid Plexus (CP) might not be working properly. Think of the CP as a gatekeeper that controls what goes into the fluid surrounding your brain and spine, including folate.

Currently, it's hard to check how well the CP is working. This study aims to find special signs on MRI scans and in blood/spinal fluid samples from LHIPFOLD patients that show CP problems. By understanding this better in LHIPFOLD, the researchers hope to develop new tests that doctors can use in the future. These new diagnostic tools could not only help people with LHIPFOLD but might also be useful for other brain conditions, such as Alzheimer's disease, potentially opening the door to new treatments.

Key takeaways

This study investigates Cerebral Folate Deficiency (CFD) in LHIPFOLD syndrome.
Focussing on the choroid plexus (CP), a brain 'gatekeeper', as a possible cause.
Aims to find new ways to diagnose CP problems using MRI scans and body fluid samples.
Findings could help people with LHIPFOLD and potentially other brain conditions like Alzheimer's.
Participation involves MRI scans and collecting blood/spinal fluid over two years.
The goal is to develop better diagnostic tools for clinical use.

Who may be eligible?

This study is looking for adults aged 18 and over. They are seeking two main groups of people, plus healthy volunteers.

Firstly, they need people who have, or are suspected of having, the LHIPFOLD condition. This means you would have low folate in your spinal fluid, high protein in your spinal fluid, and specific changes on your brain MRI scan. You must also be covered by your local social security or health insurance scheme.

Secondly, they are looking for people with certain other neurological conditions like Alzheimer's disease, Multiple Sclerosis, or Parkinson's, who do not have any other major long-term health problems. Lastly, they need healthy volunteers who have no long-term health issues, no history of brain disorders, and don't take certain medications or substances.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you 18 years old or older?
Do you have, or are you suspected of having, the LHIPFOLD condition?
Are you covered by a social security or health insurance scheme?
Do you have any conditions that would prevent you from having an MRI scan (e.g., certain metal implants)?
Are you pregnant or breastfeeding?
Do you have any serious kidney problems or allergies to MRI contrast dyes?

Answer every question to see your result.

What does participation involve?

If you join this study, your involvement will last for two years. During this time, you will have several appointments where the study team will collect data. This mainly involves having brain MRI scans and providing samples of your blood and spinal fluid. Spinal fluid is collected through a procedure called a lumbar puncture, where a small needle is used to take fluid from your lower back. The researchers will not be giving you any new medications as part of this study.

Potential risks and benefits

Potential benefits of participating include helping researchers better understand how brain conditions like LHIPFOLD develop, which could lead to improved diagnosis and treatment for yourself and others in the future. Potential risks include discomfort or minor side effects from the MRI scans (like claustrophobia or reactions to contrast dye) and the lumbar puncture procedure (such as headache or bruising). You are free to withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (2)

CIC Neurosciences
Verified postcode
Paris, France· Recruiting
Service de Neurologie, Pitié-Salpêtrière
Verified postcode
Paris, France· Recruiting

Common questions

What is 'cerebral folate deficiency'?

It means your brain doesn't have enough of a vital vitamin called folate, even if your blood folate levels are normal.

What is the choroid plexus (CP)?

It's a small part of your brain that acts like a gatekeeper, controlling what substances, including folate, get into the fluid surrounding your brain and spinal cord.

Will I receive any new treatment in this study?

No, this study is focused on understanding and diagnosing the condition using scans and samples, not on giving new treatments.

What is a lumbar puncture?

It's a medical procedure where a small needle is carefully inserted into your lower back to collect a sample of the fluid that surrounds your brain and spinal cord.

How long will I be involved in the study?

If you participate, you will be involved for a total of two years.

How to find out more

Yann NADJAR, MD

yann.nadjar@aphp.fr 01 42 16 17 52 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.