Quality of Life in Female Carriers of X-linked Adrenoleukodystrophy

Status: Recruiting
Location: See location...
Study Type: Observational
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
Participation Requirements
Sex: Female
Minimum Age: 18
Healthy Volunteers: f
View:

• 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

Locations
Other Locations
Germany
Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany
RECRUITING
Leipzig
Contact Information
Primary
Lisa Schäfer, PhD
lisa.schaefer@medizin.uni-leipzig.de
+49-341-9720086
Time Frame
Start Date: 2019-12-01
Estimated Completion Date: 2027-03-01
Participants
Target number of participants: 200
Sponsors
Leads: Leipzig University Medical Center

This content was sourced from clinicaltrials.gov