Quality of Life in Women With X-linked Adrenoleukodystrophy

X-linked Adrenoleukodystrophy Clinical Trial

— X-ALD_QoL  

Official title:

Quality of Life in Female Carriers of X-linked Adrenoleukodystrophy

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04675749
• Other study ID #: X-ALD_QoL
• Status: Recruiting
• Start date: December 1, 2019
• Est. completion date: March 1, 2025

Study information

• Verified date: November 2023
• Source: Leipzig University Medical Center
• Contact: Lisa Schäfer
• Phone: +49-341-9720086
• Email: lisa.schaefer[@]medizin.uni-leipzig.de
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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/).

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 200
• Est. completion date: March 1, 2025
• Est. primary completion date: January 1, 2025
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Adrenoleukodystrophy
• X-linked Adrenoleukodystrophy

Locations

Country	Name	City	State
Germany	Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany	Leipzig	Saxony

Sponsors (1)

Lead Sponsor	Collaborator
Leipzig University Medical Center

Country where clinical trial is conducted

Germany, 

Outcome

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