Clinical trial NCT04675749: Quality of Life in Women with X-linked Adrenoleukodystrophy
Official title: Quality of Life in Female Carriers of X-linked Adrenoleukodystrophy
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: X-linked Adrenoleukodystrophy
Keywords: Adrenoleukodystrophy
Adrenomyeloneuropathy
Brain Diseases, Metabolic, Inborn
Central Nervous System Diseases
Demyelinating Diseases
White Matter Disorder
Genetic Diseases, X-Linked
Peroxisomal Disorders
Metabolic Diseases
Female Carrier
Adrenoleukodystrophy, women
Heterozygous Carrier
Quality of Life
Lead sponsor: Leipzig University Medical Center
Sponsor class: OTHER
First posted: 2020-12-19
Enrollment: 200
Sex: FEMALE
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Female carriers of X-ALD with or without AMN symptoms aged ≥18 years

Brief summary: 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/).


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

  1. Elevated VLCFA values, or
  2. Mutation in ABCD1 gene

Exclusion Criteria:

* No informed consent and assent
* Current pregnancy

Primary outcomes:
measure: Number of Participants with AMN Symptoms as Assessed by Adult ALD Clinical Score (AACS) - self-report version
timeFrame: Day 0
measure: Quality of Life in Symptomatic versus Asymptomatic Participants as Assessed by Self-report Questionnaire (SF-36)
timeFrame: Day 0
Secondary outcomes:
Other outcomes:
Locations:
city: Leipzig
country: Germany
facility: Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany
state: Saxony
Study officials:
affiliation: Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany
name: Wolfgang Köhler, MD
role: PRINCIPAL_INVESTIGATOR
References: