Quality of Life in Women With X-linked Adrenoleukodystrophy

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Brief Title

Quality of Life in Women With X-linked Adrenoleukodystrophy

Official Title

Quality of Life in Female Carriers of X-linked Adrenoleukodystrophy

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

      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 Type


Primary Outcome

Number of Participants with AMN Symptoms as Assessed by Adult ALD Clinical Score (AACS) - self-report version


X-linked Adrenoleukodystrophy


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

December 1, 2019

Completion Date

March 1, 2023

Primary Completion Date

January 1, 2023

Eligibility Criteria

        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




18 Years - N/A

Accepts Healthy Volunteers



Wolfgang Köhler, MD, +49-341-9720086, [email protected]

Location Countries


Location Countries


Administrative Informations



Organization ID


Responsible Party

Principal Investigator

Study Sponsor

Leipzig University Medical Center

Study Sponsor

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

Verification Date

April 2022