Quality of Life in Women With 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/).

Recruiting

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Key information

Conditions

X-linked Adrenoleukodystrophy Adrenal Gland Diseases Adrenal Insufficiency Adrenoleukodystrophy Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Demyelinating Diseases Endocrine System Diseases Genetic Diseases, Inborn Genetic Diseases, X-Linked Hereditary Central Nervous System Demyelinating Diseases Heredodegenerative Disorders, Nervous System Intellectual Disability Leukoencephalopathies Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Nutritional and Metabolic Diseases Peroxisomal Disorders X-Linked Intellectual Disability

Age range

18 year and older

Sex eligibility

Female

Study type

Observational

Primary location

Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany

Leipzig, Saxony, 04103, Germany

Location status: Recruiting

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

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

Interested in participating?

Recruiting

Interested in participating?

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Sponsors and collaborators

Lead sponsor

Leipzig University Medical Center

Other

Registry information

Official study title

Quality of Life in Female Carriers of X-linked Adrenoleukodystrophy

Acronym: X-ALD_QoL

Important dates

Study start: 2019
Primary completion: 2028
Study completion: 2028
First posted: Dec 19, 2020
Registry last updated: Aug 27, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed