X-linked AdrenoleukodystrophyX-ALD_QoLNCT04675749
Quality of Life in Women With X-linked Adrenoleukodystrophy
An observational study of X-linked Adrenoleukodystrophy, run by Leipzig University Medical Center at 1 site in Germany.
Trial summary
X-linked adrenoleukodystrophy (X-ALD) is a hereditary white matter disorder caused by mutations in the ABCD1 gene leading to disturbances in the metabolism of fatty acids. This results in an accumulation of very long chain fatty acids (VLCFA) in the cells of the body causing damage to the central nervous system (white… Read more about this study
- Who is it for?
- Ages 18 years and older, women only
- Conditions the study is for
- X-linked Adrenoleukodystrophy
- How many people
- 200 participants
- Where
- 1 siteGermany
- Study dates
- 1 Dec 2019to 1 Mar 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- Women only
- No healthy volunteers
- Adult, Older adult
Study population: Female carriers of X-ALD with or without AMN symptoms aged ≥18 years
Who may be able to join
- Informed consent obtained from the participant
- Females ≥18 years at the time of consent, with proven X-ALD as defined by
- Elevated VLCFA values, or
- Mutation in ABCD1 gene
Who cannot join
- No informed consent and assent
- Current pregnancy
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Germany1 site, 1 recruiting
- Recruiting
Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany
Leipzig, Saxony, 04103
Lisa Schäfer, PhD, +49-341-9720086, lisa.schaefer@medizin.uni-leipzig.de
Wolfgang Köhler, MD
About this study
Official title: Quality of Life in Female Carriers of X-linked Adrenoleukodystrophy
X-linked adrenoleukodystrophy (X-ALD) is a hereditary white matter disorder caused by mutations in the ABCD1 gene leading to disturbances in the metabolism of fatty acids. This results in an accumulation of very long chain fatty acids (VLCFA) in the cells of the body causing damage to the central nervous system (white matter of the brain and spinal cord). The most common adult-onset X-ALD phenotype is adrenomyeloneuropathy (AMN), a slowly progressive myelopathic variant with demyelination of the long tracts in the spinal cord, clinically manifested as slowly progressive spastic paraparesis, sensory ataxia, bladder and sexual dysfunction.
Although this rare disease is inherited X-linked, previous research revealed that up to 80% of heterozygous women develop AMN symptoms during their lifetime.
Read more
The primary objectives of this study are 1) to assess the prevalence of symptomatic courses in female carriers of X-ALD and 2) to determine the impact of AMN symptoms on the quality of life of affected women in various areas (including everyday life, work, social network, sleep quality, sexuality, mood).
Participants are asked to fill in self-report questionnaires, which are available in English, German, French, Spanish, and Italian, and are provided electronically on the online platform Leuconnect (https://www.leuconnect.com) launched by European Leukodystrophies Association (ELA) international (https://elainternational.eu/).
- Conditions
- X-linked Adrenoleukodystrophy
- Keywords
- Adrenoleukodystrophy, Adrenomyeloneuropathy, Brain Diseases, Metabolic, Inborn, Central Nervous System Diseases, Demyelinating Diseases, White Matter Disorder, Genetic Diseases, X-Linked, Peroxisomal Disorders, Metabolic Diseases, Female Carrier, Adrenoleukodystrophy, women, Heterozygous Carrier, Quality of Life
- Medical subject headings
- Adrenoleukodystrophy, Brain Diseases, Metabolic, Inborn, Central Nervous System Diseases, Demyelinating Diseases, Genetic Diseases, X-Linked, Peroxisomal Disorders, Metabolic Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Participants with AMN Symptoms as Assessed by Adult ALD Clinical Score (AACS) - self-report version
Measured: Day 0
Quality of Life in Symptomatic versus Asymptomatic Participants as Assessed by Self-report Questionnaire (SF-36)
Measured: Day 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Dec 2020
- Study start1 Dec 2019
- Primary completion1 Jan 2028 (estimated)
- Study completion1 Mar 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for X-linked AdrenoleukodystrophyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Leipzig University Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Lisa Schäfer, Leipzig University Medical Center
- Investigators
- Wolfgang Köhler, MD, Principal investigator, Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04675749
- Sponsor's protocol ID
- X-ALD_QoL
- Acronym
- X-ALD_QoL
- Status last verified
- Aug 2026
- First submitted
- 11 Dec 2020
- Last updated
- 27 Aug 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Quality of Life in Female Carriers of X-linked Adrenoleukodystrophy
- ClinicalTrials.gov ID
- NCT04675749
- Acronym / sponsor ID
- X-ALD_QoL / X-ALD_QoL
- Conditions
- X-linked Adrenoleukodystrophy
- Keywords
- Adrenoleukodystrophy, Adrenomyeloneuropathy, Brain Diseases, Metabolic, Inborn, Central Nervous System Diseases, Demyelinating Diseases, White Matter Disorder, Genetic Diseases, X-Linked, Peroxisomal Disorders
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Leipzig University Medical CenterUniversity, hospital or other
- Study start
- 1 Dec 2019 (actual)
- Primary completion
- 1 Jan 2028 (estimated)
- Study completion
- 1 Mar 2028 (estimated)
- First posted
- 19 Dec 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
X-linked adrenoleukodystrophy (X-ALD) is a hereditary white matter disorder caused by mutations in the ABCD1 gene leading to disturbances in the metabolism of fatty acids. This results in an accumulation of very long chain fatty acids (VLCFA) in the cells of the body causing damage to the central nervous system (white matter of the brain and spinal cord). The most common adult-onset X-ALD phenotype is adrenomyeloneuropathy (AMN), a slowly progressive myelopathic variant with demyelination of the long tracts in the spinal cord, clinically manifested as slowly progressive spastic paraparesis, sensory ataxia, bladder and sexual dysfunction.
Although this rare disease is inherited X-linked, previous research revealed that up to 80% of heterozygous women develop AMN symptoms during their lifetime.
The primary objectives of this study are 1) to assess the prevalence of symptomatic courses in female carriers of X-ALD and 2) to determine the impact of AMN symptoms on the quality of life of affected women in various areas (including everyday life, work, social network, sleep quality, sexuality, mood).
Participants are asked to fill in self-report questionnaires, which are available in English, German, French, Spanish, and Italian, and are provided electronically on the online platform Leuconnect (https://www.leuconnect.com) launched by European Leukodystrophies Association (ELA) international (https://elainternational.eu/).
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Female carriers of X-ALD with or without AMN symptoms aged ≥18 years
Key inclusion criteria (4 listed)
- Informed consent obtained from the participant
- Females ≥18 years at the time of consent, with proven X-ALD as defined by
Key exclusion criteria (2 listed)
- No informed consent and assent
- Current pregnancy
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Number of Participants with AMN Symptoms as Assessed by Adult ALD Clinical Score (AACS) - self-report version
Time frame: Day 0
Quality of Life in Symptomatic versus Asymptomatic Participants as Assessed by Self-report Questionnaire (SF-36)
Time frame: Day 0
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Aug 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Wolfgang Köhler, MD principal investigator
Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of X-linked Adrenoleukodystrophy, run by Leipzig University Medical Center at 1 site in Germany.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 27 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Lisa Schäfer, PhD (+49-341-9720086, lisa.schaefer@medizin.uni-leipzig.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of Participants with AMN Symptoms as Assessed by Adult ALD Clinical Score (AACS) - self-report version (time frame: Day 0). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Aug 2026.