Clinical Trials Logo

Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT04675749
Other study ID # X-ALD_QoL
Secondary ID
Status Recruiting
Phase
First received
Last updated
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
Health authority
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

Study Design


Related Conditions & MeSH terms


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
See also
  Status Clinical Trial Phase
Not yet recruiting NCT05911919 - Validation of a Prognostic Biomarker Using Brain Diffusion MRI in X-linked Adrenoleukodystrophy
Recruiting NCT03727555 - Lentiviral Gene Therapy for X-ALD N/A
Completed NCT02595489 - A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Phase 1
Completed NCT01594853 - Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy N/A
Completed NCT04687007 - SMART-ALD - A New Lifestyle Intervention to Improve Quality of Life in Women With X-linked Adrenoleukodystrophy (X-ALD) N/A
Completed NCT01165060 - The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD) N/A
Recruiting NCT05939232 - Registry of X-linked Adrenoleukodystrophy
Active, not recruiting NCT02699190 - LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Completed NCT03864523 - Effect of Pioglitazone Administered to Patients With Adrenomyeloneuropathy Phase 2
Recruiting NCT06178120 - Disease Progression in Women With X-linked Adrenoleukodystrophy
Recruiting NCT03278899 - A Study to Prospectively Assess Disease Progression in Male Children With X-ALD
Recruiting NCT03047369 - The Myelin Disorders Biorepository Project
Withdrawn NCT03196765 - Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy Phase 1/Phase 2
Withdrawn NCT01787578 - Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD) Phase 1
No longer available NCT02233257 - Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy N/A