Can a questionnaire reveal the hidden burden of a rare genetic disease in women?
NCT ID NCT04675749
First seen Aug 27, 2026 · Last updated Aug 28, 2026 · Updated 1 time
Summary
This study looks at women who carry the gene for X-linked adrenoleukodystrophy (X-ALD), a rare inherited condition that mainly affects the nervous system. Although the disease is linked to the X chromosome, up to 80% of female carriers may develop symptoms like leg weakness and bladder problems. Researchers will ask 200 women to fill out online questionnaires about their symptoms, daily life, work, sleep, mood, and sexuality. The goal is to measure how often symptoms occur and how they affect quality of life, which could guide future care.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If it works, this could point toward better support and care for women who carry the X-ALD gene, many of whom develop symptoms despite not having the full disease.
- What could go wrong
- This is an observational study using self-report questionnaires, so it cannot prove causes. Responses may not reflect the full range of experiences, and the findings may not apply to all carriers.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 200 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Dec 2019
- Expected to finish
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Mar 2028
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Female carriers of X-ALD with or without AMN symptoms aged ≥18 years
- Ages
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18 years and older
- Sex
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Female participants only
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * Informed consent obtained from the participant * Females ≥18 years at the time of consent, with proven X-ALD as defined by 1. Elevated VLCFA values, or 2. Mutation in ABCD1 gene Exclusion Criteria: * No informed consent and assent * Current pregnancy
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany
RECRUITINGLeipzig, Saxony, 04103, Germany
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