Five year follow-up of the phenotype of X-linked adrenoleukodystrophy carriers: a cohort study.

Five year follow-up of the phenotype of X-linked adrenoleukodystrophy carriers: a cohort study. - Follow-up phenotype X-ALD carriers

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON43945

Enrollment

Registered

2015-04-22

Start date

2015-05-21

Completion date

Unknown

Last updated

2024-04-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Schilder's disease X-ALD X-linked adrenoleukodystrophy

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: - Female carriers of X-ALD (confirmed by ABCD1 mutation analysis) - Age above 18 years - Willing to visit the hospital - Informed consent obtained from participant

Exclusion criteria

Exclusion criteria: - Unable to visit the hospital - Neurological co-morbidity (because this would impede accurate interpretation of the neurological assessment)

Design outcomes

Primary

Measure	Time frame
To conduct a five year follow-up of the X-ALD carriers and evaluate progression of symptoms by assessing participants* current symptomatic and biochemical (VLCFA in plasma) status.	—

Secondary

Measure	Time frame
To validate a new biomarker (26:0-lyso-PC(1- hexacosanoyl-2-lyso-sn-3-glycero-phosphorylcholine)) amongst X-ALD carriers. To identify new (diagnostic) biomarkers for X-ALD using lipidomics analysis.	—

Countries

Netherlands

Outcome results