Quality of Life in Women with X-linked Adrenoleukodystrophy

Recruiting

• Conditions: X-linked Adrenoleukodystrophy

• Registration Number: NCT04675749
• Lead Sponsor: Leipzig University Medical Center

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/).

Detailed Description

Not available

Study Timeline

• Study Start: 2019-12-01
• Study First Submitted: 2020-12-11
• Study First Submitted QC: 2020-12-17
• Study First Posted: 2020-12-19
• Status Verified: 2024-11
• Last Update Submitted: 2025-01-02
• Last Update Posted: 2025-01-03
• Primary Completion: 2027-01-01
• Study Completion: 2027-03-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: Female
• Target Recruitment: 200

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Quality of Life in Symptomatic versus Asymptomatic Participants as Assessed by Self-report Questionnaire (SF-36)	Day 0
Number of Participants with AMN Symptoms as Assessed by Adult ALD Clinical Score (AACS) - self-report version	Day 0

Trial Locations

Locations (1)

Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany; 🇩🇪 Leipzig, Saxony, Germany