RecruitingNAINTERVENTIONAL

The preSPG4 Study - Studying the Prodromal and Early Phase of SPG4

This study, called 'The preSPG4 Study', is looking into a condition called Hereditary Spastic Paraplegia, specifically the SPG4 type. This is a genetic condition that mainly affects movement, causing stiffness and weakness in the legs. We're studying people who have a family history of SPG4 and thus carry the specific genetic change, but haven't developed full symptoms yet, or are just starting to show very early signs of the condition. The main goal is to understand how SPG4 progresses naturally over time, even before serious symptoms appear. By doing this, researchers hope to find early indicators (called 'biomarkers') that show how active the disease is, which could lead to better ways to diagnose and treat it in the future. There are no new treatments being tested in this study.

At a glance

Status

Recruiting

Phase

Sponsor

University Hospital Tuebingen

Enrolment target

200

Start

01 Jul 2018

Estimated completion

01 Dec 2031

Hereditary Spastic Paraplegia Hereditary, Spastic Paraplegia, Autosomal Dominant

What is this study about?

This study is called 'The preSPG4 Study' and it focuses on a condition called Hereditary Spastic Paraplegia, specifically the SPG4 type. This is a genetic condition, meaning it's passed down through families, and it mainly affects the nervous system, leading to stiffness and weakness in the leg muscles. This can make walking difficult over time.

The main idea behind this study is to understand how SPG4 develops. Researchers are particularly interested in two groups of people: those who have the gene for SPG4 but haven't developed full symptoms yet (known as 'pre-symptomatic' carriers), and those who are only just starting to show very early signs of the condition. By carefully watching how the condition changes over time in these individuals, researchers hope to learn more about its natural progression.

Ultimately, the goal is to identify 'biomarkers'. These are like early warning signs or objective measurements that can tell us what's happening in the body related to the disease, even before noticeable symptoms appear. Finding these biomarkers could be incredibly helpful for future research into new treatments, as they could help doctors understand who might benefit most from a treatment and if it's working.

Key takeaways

This study focuses on understanding how Hereditary Spastic Paraplegia (SPG4) begins and progresses.
It involves people who carry the genetic change for SPG4 but may not yet have full symptoms.
The goal is to find early markers of the disease and improve future diagnosis and treatment.
Participation involves various tests like physical exams, MRI scans, and blood tests, but no new medicines.
Your contribution could significantly help with future research into SPG4.
You have the right to leave the study at any time without affecting your care.

Who may be eligible?

To be considered for this study, you would need to be aged between 18 and 70 years old. A key requirement is that you must be a close relative – a parent, child, or sibling – of someone who has already been diagnosed with SPG4 or is known to have the specific genetic change (called a 'SPAST mutation') that causes SPG4.

It's important that there's scientific confirmation of the SPAST mutation in your family. If there's no known genetic link to SPG4 in your family, you wouldn't be able to join this study. Also, if you already have clear, noticeable stiffness or difficulty walking due to spasticity, you wouldn't be eligible for this particular study, as it's focused on earlier stages. However, very mild signs like increased reflexes are still acceptable.

Finally, if you are currently taking part in any other study that involves trying out new treatments or interventions, you wouldn't be able to join this study at the same time. You would also need to be able to understand the study information and provide your agreement to take part in writing.

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 between 18 and 70 years old?
Does a close family member (parent, child, or sibling) have SPG4 or a known SPAST gene change?
Do you NOT have obvious, noticeable stiffness or difficulty walking (mild signs are okay)?
Are you NOT currently taking part in another study testing new treatments?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you will have several appointments over time. These will involve different types of tests to help researchers understand your condition. You would have your movement and balance checked using a special scoring system (called the SPRS score), and your thinking skills would be assessed using tablet-based games (CANTAB testing).

Other assessments include a blood test and a lumbar puncture (also known as a spinal tap), which involves collecting a small sample of fluid from around your spinal cord. You would also have an MRI scan, which uses magnets and radio waves to create detailed images of your brain and spinal cord, and electromyography (EMG), which checks nerve and muscle health. Researchers will also look at your ability to do everyday tasks and ask about any non-motor symptoms you might be experiencing, like changes in mood or sleep.

There are no new medications or treatments given as part of this study; it's purely observational. The total duration of the study would involve regular visits over an extended period to track changes over time.

Potential risks and benefits

Participating in this study offers the benefit of contributing valuable information that could lead to a better understanding of SPG4, potentially helping future generations with the condition. You will also receive careful medical monitoring and detailed assessments. However, some procedures like the lumbar puncture carry small risks, such as headaches or discomfort, and MRI scans might not be suitable for everyone. All study procedures involve time commitment and may cause some inconvenience. You have the right to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (1)

University Hospital Tübingen, Center for Neurology
Verified postcode
Tübingen, Germany· Recruiting

Common questions

What is SPG4?

SPG4 is a type of Hereditary Spastic Paraplegia, a genetic condition that causes stiffness and weakness, mostly in the legs, making walking harder over time.

Will I get any new medicine in this study?

No, this study is 'observational', which means researchers are only watching and collecting information. No new treatments or medicines are being tested or given.

Why is it important to study people without full symptoms?

By studying people before they get serious symptoms, researchers hope to understand the very early changes in the body and find ways to predict or even prevent the disease from getting worse.

What is a lumbar puncture?

A lumbar puncture is a procedure where a doctor carefully collects a small sample of fluid from your lower back, from around your spinal cord. It helps provide important information about your brain and spinal cord health.

How long will I need to be in the study?

The study involves regular visits over an extended period to track how the condition develops over time, but the exact total duration would be explained by the study team.

How to find out more

Ludger Schöls, Prof.

ludger.schoels@uni-tuebingen.de +49 7071 / 29 Official trial record

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