Quality of Life in Women with X-linked Adrenoleukodystrophy

NCT04675749 | Recruiting

• 1 other identifier: X-ALD_QoL
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

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/).

Conditions

X-linked Adrenoleukodystrophy

Keywords

Adrenoleukodystrophy; Adrenomyeloneuropathy; Brain Diseases, Metabolic, Inborn; Central Nervous System Diseases; Demyelinating Diseases; White Matter Disorder; Genetic Diseases, X-Linked; Peroxisomal Disorders; Metabolic Diseases; Female Carrier; Adrenoleukodystrophy, women; Heterozygous Carrier; Quality of Life

Outcome Measures

Primary Outcomes (2)

• 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

Eligibility Criteria

• Age: 18 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• No informed consent and assent
• Current pregnancy

Sponsors & Collaborators

• Leipzig University Medical Center: lead

Study Sites (1)

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

Leipzig, Saxony, 04103, Germany

RECRUITING

MeSH Terms

Conditions

Adrenoleukodystrophy; Brain Diseases, Metabolic, Inborn; Central Nervous System Diseases; Demyelinating Diseases; Genetic Diseases, X-Linked; Peroxisomal Disorders; Metabolic Diseases

Condition Hierarchy (Ancestors)

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

Study Officials

• Wolfgang Köhler, MD

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

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Lisa Schäfer, PhD

CONTACT

+49-341-9720086; lisa.schaefer@medizin.uni-leipzig.de

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Dr.

Study Record Dates

• First Submitted: December 11, 2020
• First Posted: December 19, 2020
• Study Start: December 1, 2019
• Primary Completion (Estimated): January 1, 2027
• Study Completion (Estimated): March 1, 2027
• Last Updated: January 3, 2025

Record last verified: 2024-11

Data Sharing

• IPD Sharing: Will not share

Locations

DE (1)