Assessing quality of life in women with X-linked adrenoleukodystrophy
Quality of Life in Female Carriers of X-linked Adrenoleukodystrophy
This study is trying to see how symptoms of X-linked adrenoleukodystrophy affect the quality of life for women who are carriers of the condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 200 (estimated) |
| Ages | 18 Years and up |
| Sex | Female |
| Sponsor | Leipzig University Medical Center Academic / other |
| Locations | 1 site (Leipzig, Saxony) |
| Trial ID | NCT04675749 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on women who are carriers of X-linked adrenoleukodystrophy (X-ALD), a genetic disorder that can lead to significant neurological symptoms. The study aims to evaluate the prevalence of symptoms associated with adrenomyeloneuropathy (AMN) in these women and to assess how these symptoms affect their quality of life. Participants must be female, at least 18 years old, and have confirmed X-ALD through genetic testing or elevated fatty acid levels. The study is conducted at Leipzig University Medical Center in Germany.
Who should consider this trial
Good fit: Ideal candidates for this study are women aged 18 and older who are confirmed carriers of X-ALD.
Not a fit: Patients who are not female or who are currently pregnant will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the impact of X-ALD on women's health and quality of life, potentially guiding future treatment and support strategies.
How similar studies have performed: While there have been studies on X-ALD, this specific focus on the quality of life in female carriers is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Leipzig, Saxony
- Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany — Leipzig, Saxony, Germany (Recruiting)
Study contacts
- Principal investigator: Wolfgang Köhler, MD — Leipzig University Medical Center, Leukodystrophy Outpatient Clinic, Department of Neurology, Leipzig, Germany
- Study coordinator: Lisa Schäfer, PhD
- Email: lisa.schaefer@medizin.uni-leipzig.de
- Phone: +49-341-9720086
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.