Quality of Life in Women with X-linked Adrenoleukodystrophy
Recruiting now
Conditions studied: X-linked Adrenoleukodystrophy
In brief
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/).
Key facts
- Study ID
- NCT04675749
- Run by
- Leipzig University Medical Center
- People needed
- 200
- Starts
- 2019-12-01
- Expected to finish
- 2027-03-01
- Last updated by the study team
- 2025-01-03
Who can join
Age: 18 and older. Sex: female. Healthy volunteers: not accepted.
You may qualify if…
- 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
You may not qualify if…
- No informed consent and assent
- Current pregnancy
Where it is running
- Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany — Leipzig, Saxony, Germany (enrolling)
Full record on ClinicalTrials.gov
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