Quality of Life in Women with X-linked Adrenoleukodystrophy

Sponsor
Leipzig University Medical Center
Study ID
NCT04675749
Status
Recruiting
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Conditions

Eligibility Criteria

Sex
FEMALE
Age
18 Years - N/A
Healthy Volunteers
Not accepted

Study Details

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 Dates

Start date
Dec 1, 2019
Status verified
Nov 2024
Primary completion
Jan 1, 2027
Completion
Mar 1, 2027

Study Design

Enrollment
200 participants (estimated)

Primary Outcome Measure

Number of Participants with AMN Symptoms as Assessed by Adult ALD Clinical Score (AACS) - self-report version [ Time Frame: Day 0 ]

Central Contacts

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