RecruitingOBSERVATIONAL

Quality of Life in Women with X-linked Adrenoleukodystrophy

This study aims to understand how X-linked Adrenoleukodystrophy (X-ALD) affects women. X-ALD is a rare condition that affects the nervous system. Even though it's inherited by the X chromosome, many women develop symptoms in adulthood despite having a second healthy X chromosome. These symptoms typically lead to problems with movement, balance, and bladder control. This research will help us learn how often these symptoms appear in women with X-ALD and how they impact their quality of life in areas like daily activities, work, and sleep. If you choose to take part, you'll be asked to fill in some questionnaires online. The study is open to women aged 18 and over who have a confirmed diagnosis of X-ALD.

At a glance

Status

Recruiting

Sponsor

Leipzig University Medical Center

Enrolment target

200

Start

01 Dec 2019

Estimated completion

01 Mar 2027

X-linked Adrenoleukodystrophy

What is this study about?

X-linked Adrenoleukodystrophy (X-ALD) is a rare inherited condition that affects the nervous system. It's caused by a change in a gene that helps the body process certain fats. When this gene doesn't work properly, these fats build up and can damage the protective covering around nerves, particularly in the brain and spinal cord. This can lead to various symptoms over time.

While X-ALD is often thought of as affecting men more severely, we now know that many women who carry the gene for X-ALD can also develop symptoms later in life. The most common form in adults is called adrenomyeloneuropathy (AMN). This can cause problems with movement, balance, and bladder control that tend to get worse slowly over time.

This study is important because we want to learn more about how X-ALD affects women. We're specifically looking at two main things: how common it is for women with the X-ALD gene to develop symptoms, and how these symptoms affect their daily lives. We want to understand the impact on their work, social life, sleep, and even their mood. This information will help doctors and researchers better understand and support women living with X-ALD.

Key takeaways

Study looks at X-ALD's impact on adult women.
Focuses on symptoms and quality of life.
Participation involves online questionnaires only.
No in-person visits or medication required.
Aims to improve understanding of X-ALD in women.
Open to women 18+ with confirmed X-ALD.

Who may be eligible?

Are you a woman aged 18 or older? This study might be for you if you have a confirmed diagnosis of X-linked Adrenoleukodystrophy (X-ALD). This means either your blood tests show high levels of specific fats related to X-ALD, or genetic tests confirm a change in the ABCD1 gene.

Unfortunately, you can't join the study if you are currently pregnant. Also, you need to understand and agree to take part in the study, which is called giving your 'informed consent'.

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 female?
Are you aged 18 or over?
Do you have a laboratory-confirmed diagnosis of X-ALD?
Are you currently not pregnant?
Are you able to provide your consent to participate?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, your involvement will be quite straightforward. You won't need to visit a clinic or take any medication. Instead, you'll be asked to complete a series of questionnaires. These questionnaires will be available online through a special platform called Leuconnect. You can complete them in English, German, French, Spanish, or Italian.

The questionnaires will ask you about various aspects of your health and daily life, including your general well-being, work, social activities, sleep quality, and mood. The information you provide will help researchers understand the impact of X-ALD symptoms on women's quality of life. The study involves no follow-up appointments and the total duration of your participation will depend on how long it takes you to complete the online questionnaires.

Potential risks and benefits

The potential benefits of taking part in this study include contributing to a better understanding of X-ALD in women, which could help improve support and treatments in the future. You might also find it helpful to reflect on your own experiences. There are very few direct risks involved, as you are simply completing questionnaires. The main potential inconvenience might be the time taken to answer the questions. You always have the right to withdraw from the study at any time without giving a reason, and this will not affect your medical care.

Locations (1)

Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany
Verified postcode
Leipzig, Germany· Recruiting

Common questions

What is X-linked Adrenoleukodystrophy (X-ALD) in simple terms?

It's a rare genetic condition that primarily affects the nervous system, which can cause problems with movement and balance.

Why is this study focusing on women?

While X-ALD is often associated with men, many women who carry the gene can develop symptoms, and this study aims to understand their experiences better.

What do I have to do if I join the study?

You will fill out some online questionnaires about your health and daily life.

Do I need to visit a hospital or clinic?

No, all participation is done online from your home.

Is my personal information kept private?

Yes, your information will be handled confidentially and used only for research purposes, respecting your privacy.

How to find out more

Dr. Lisa Schäfer

lisa.schaefer@medizin.uni-leipzig.de +49 341 97 20086 Official trial record

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