An observational study in X-linked Adrenoleukodystrophy, sponsored by Leipzig University Medical Center. Recruiting at 1 site in Germany. Open to female participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-08-27.
Sponsored by Leipzig University Medical Center · Observational
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/).
68 studies on the registry are indexed under Adrenoleukodystrophy; 19 are open to participants now.
This study's planned enrollment of 200 is above the median of 120 across 19 observational studies indexed under Adrenoleukodystrophy.
Browse Adrenoleukodystrophy studies →Leipzig University Medical Center is the lead sponsor of 3 studies on the registry; 2 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Female carriers of X-ALD with or without AMN symptoms aged ≥18 years
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Females ≥18 years at the time of consent, with proven X-ALD as defined by
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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
Started Dec 2019 (actual). Primary completion is estimated for Jan 2028, 97 months after the start.
How these figures are worked out, and which studies are left out of them.
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Leipzig University Medical Center