RecruitingOBSERVATIONAL

Gaucherite - A Study to Stratify Gaucher Disease

This research, called 'Gaucherite', aims to understand Gaucher disease better by reviewing existing health information and collecting new details from patients in England. Gaucher disease is a rare genetic condition that can cause various symptoms, affecting different people in different ways. Some people experience mild symptoms, while others have more serious health issues, including problems with bones, an enlarged spleen and liver, or, in some types, neurological issues impacting the brain and spinal cord. The study focuses on Type 1 and Type 3 Gaucher disease to identify what factors might predict how severe the disease will be for an individual and how effectively they will respond to current treatments, particularly regarding bone health, cancer risk, and brain conditions.

At a glance

Status

Recruiting

Sponsor

Cambridge University Hospitals NHS Foundation Trust

Enrolment target

250

Start

01 Jan 2014

Estimated completion

31 Dec 2028

Gaucher Disease, Type I Gaucher Disease, Type III

What is this study about?

Gaucher disease is a rare genetic illness that affects how your body recycles certain fats. It's caused by a faulty gene that means your body doesn't produce enough of an important enzyme needed to break down a specific type of fat. When this fat builds up, it can cause various problems in different parts of the body. There are different types of Gaucher disease, with Type 1 being the most common, and Type 3 also being part of this study. The symptoms can vary greatly from person to person, even within the same type.

This study, called 'Gaucherite', isn't testing a new medicine. Instead, it's a look back at information already collected about people with Gaucher disease and will also collect some new information. The main goal is to figure out why some people with Gaucher disease have more serious symptoms, or why they might respond differently to the enzyme replacement therapy they are already receiving. This is particularly important for understanding how the disease affects bones, the risk of certain cancers, and any brain-related issues.

For example, in Type 1, problems can include tiredness, bruising, and issues with the spleen, liver, and bones. More recently, a link to conditions like Parkinson's disease has been noticed. In Type 3, the brain and spinal cord are affected. By carefully looking at patient information, researchers hope to find patterns that explain these differences. This understanding could help doctors predict who might be at higher risk for certain problems and tailor treatments more effectively in the future, ultimately improving care for people with Gaucher disease.

Key takeaways

This study aims to understand Gaucher disease better by using patient health information.
It focuses on how the disease affects bones, cancer risk, and the brain.
The study includes adults and children in England with Type 1 or Type 3 Gaucher disease.
Participation involves sharing medical information, not new treatments.
Insights from this research could lead to more personalised care in the future.

Who may be eligible?

To take part in this study, you or your child would need to have a confirmed medical diagnosis of Type 1, Type 2, or Type 3 Gaucher disease. It's open to both adults and children, and there's no age limit. You also need to be willing and able to follow the study's instructions and attend any necessary appointments.

If you're interested in taking part, you (or your parent or legal guardian if you're a child) would need to understand and sign a consent form. This ensures you're fully informed about the study before agreeing to participate. For children, there's also an 'assent' process, where they get to agree to take part if they are old enough to understand.

However, you wouldn't be able to join the study if you have another serious health condition that is expected to limit your life expectancy to less than six months. Also, if you (or your parent/guardian) are unable to understand and sign the consent form, you wouldn't be able to participate. Finally, the study doctor might decide if it's not suitable for you to take part.

Quick self-check

Do you have a confirmed diagnosis of Type 1, Type 2, or Type 3 Gaucher disease?
Are you, or is your child, able to understand and sign a consent form?
Are you willing to share your health information for this research?
Do you live in England?

This is a guide only — the research team will confirm whether you can take part.

What does participation involve?

This study involves reviewing existing medical records and collecting new health information from either yourself or your child if you have Gaucher disease. It does not involve taking new medications or undergoing experimental treatments. The specific assessments and time commitment aren't detailed, but typically, this type of study might involve sharing your medical history, and potentially undergoing some medical tests relevant to your Gaucher disease if new data is needed. The total duration of your involvement isn't specified, but it's a data collection study, so it focuses on gathering information over time. You will not have to attend many extra appointments.

Potential risks and benefits

Participating in this study will help us understand Gaucher disease better, which could lead to improved care for patients in the future. As this study mainly involves reviewing existing data and collecting new information during routine care, there are unlikely to be significant direct risks. Your personal information will be kept confidential. You are always free to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (8)

Birmingham Childrens Hospital
Birmingham, United Kingdom· Terminated
New Queen Elizabeth Hospital
Birmingham, United Kingdom· Recruiting
Cambridge University Hospital
Cambridge, United Kingdom· Recruiting
Great Ormond Street Hospital
London, United Kingdom· Recruiting
National Hospital for Neurology and Neurosurgery
London, United Kingdom· Recruiting
Royal Free Hospital
London, United Kingdom· Recruiting
Royal Manchester Childrens Hospital
Manchester, United Kingdom· Recruiting
Salford Royal NHS Foundation Trust
Salford, United Kingdom· Recruiting

Common questions

What is Gaucher disease?

Gaucher disease is a rare genetic condition where certain fats build up in the body's cells, due to a missing enzyme, leading to various health problems affecting different organs.

Is this study testing a new medicine?

No, this study is not testing a new medicine. It's focused on collecting and reviewing existing health information to better understand Gaucher disease.

Who can take part in this study?

Adults or children with a confirmed diagnosis of Type 1, Type 2, or Type 3 Gaucher disease in England, who are willing and able to follow the study procedures, can take part.

What information will the study collect?

The study will collect information about your health, focusing on bone health, any cancer diagnoses, and brain-related conditions, to understand how Gaucher disease affects people.

Can I leave the study if I change my mind?

Yes, you have the right to withdraw from the study at any time without giving a reason, and it will not affect your medical care.

How to find out more

Elizabeth M MORRIS, RN

liz.morris@addenbrookes.nhs.uk +441223274634 Official trial record

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