Quality of Life in Women With X-linked Adrenoleukodystrophy (X-ALD_QoL)

August 25, 2026 updated by: Lisa Schäfer, Leipzig University Medical Center

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.

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 Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Germany
    • Saxony
      • Leipzig, Saxony, Germany, 04103
        • Recruiting
        • Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany
        • Principal Investigator:
          • Wolfgang Köhler, MD
        • Contact:
        • Sub-Investigator:
          • Lisa Schäfer, PhD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Female carriers of X-ALD with or without AMN symptoms aged ≥18 years

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Number of Participants with AMN Symptoms as Assessed by Adult ALD Clinical Score (AACS) - self-report version
Time Frame: Day 0
Day 0
Quality of Life in Symptomatic versus Asymptomatic Participants as Assessed by Self-report Questionnaire (SF-36)
Time Frame: Day 0
Day 0

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Leipzig University Medical Center

Investigators

  • Principal Investigator: Wolfgang Köhler, MD, Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 1, 2019

Primary Completion (Estimated)

January 1, 2028

Study Completion (Estimated)

March 1, 2028

Study Registration Dates

First Submitted

December 11, 2020

First Submitted That Met QC Criteria

December 17, 2020

First Posted (Actual)

December 19, 2020

Study Record Updates

Last Update Posted (Actual)

August 27, 2026

Last Update Submitted That Met QC Criteria

August 25, 2026

Last Verified

August 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • X-ALD_QoL

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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