Quality of Life in Women with X-linked Adrenoleukodystrophy (X-ALD_QoL)

Quality of Life in Female Carriers of X-linked Adrenoleukodystrophy

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/).

Study Overview

• Status: Recruiting
• Conditions: X-linked Adrenoleukodystrophy

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: Lisa Schäfer, PhD; Phone Number: +49-341-9720086; Email: lisa.schaefer@medizin.uni-leipzig.de

Study Locations

• Germany
  • Saxony
    • Leipzig, Saxony, Germany, 04103
      • Recruiting
      • Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany
      • Contact: Lisa Schäfer, PhD; Phone Number: +49-341-9720086; Email: lisa.schaefer@medizin.uni-leipzig.de
      • Contact: Wolfgang Köhler, MD
      • Contact: Lisa Schäfer, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Female carriers of X-ALD with or without AMN symptoms aged ≥18 years

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Leipzig University Medical Center
• Investigators: Principal Investigator: Wolfgang Köhler, MD, Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany

Study record dates

Study Major Dates

• Study Start (Actual): December 1, 2019
• Primary Completion (Estimated): January 1, 2027
• Study Completion (Estimated): March 1, 2027

Study Registration Dates

• First Submitted: December 11, 2020
• First Submitted That Met QC Criteria: December 17, 2020
• First Posted (Actual): December 19, 2020

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: January 2, 2025
• Last Verified: November 1, 2024

More Information

Terms related to this study

• Keywords: Quality of Life; Central Nervous System Diseases; Adrenoleukodystrophy; Metabolic Diseases; Adrenomyeloneuropathy; Brain Diseases, Metabolic, Inborn; Demyelinating Diseases; White Matter Disorder; Genetic Diseases, X-Linked; Peroxisomal Disorders; Female Carrier; Adrenoleukodystrophy, women; Heterozygous Carrier
• Additional Relevant MeSH Terms: Neurologic Manifestations; Endocrine System Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Neurobehavioral Manifestations; Demyelinating Diseases; Heredodegenerative Disorders, Nervous System; Adrenal Gland Diseases; Mental Retardation, X-Linked; Intellectual Disability; Genetic Diseases, X-Linked; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Hereditary Central Nervous System Demyelinating Diseases; Leukoencephalopathies; Adrenal Insufficiency; Peroxisomal Disorders; Adrenoleukodystrophy
• Other Study ID Numbers: X-ALD_QoL

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No