Quality of Life in Women with X-linked Adrenoleukodystrophy
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: X-linked Adrenoleukodystrophy. Basic parameters: from 18 years · Female.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Germany
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Quality of Life in Female Carriers of X-linked Adrenoleukodystrophy
Overview
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/).
Primary outcome measures
- 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]
Eligibility criteria
Inclusion criteria
- 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
Exclusion criteria
- No informed consent and assent
- Current pregnancy
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Germany · 1 center
- Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurolo — Leipzig
Identifiers
NCT: NCT04675749 · X-ALD_QoL