Phenotyping X-linked adrenoleukodystrophy (X-ALD) in women: a cohort study

Phenotyping X-linked adrenoleukodystrophy (X-ALD) in women: a cohort study - Phenotyping X-linked adrenoleukodystrophy (X-ALD) in women

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON31235

Enrollment

Registered

2007-07-17

Start date

2007-05-01

Completion date

Unknown

Last updated

2024-05-13

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

Conditions

Schilder's disease X-linked adrenoleukodystrophy

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: - Age > 18 years - Carrier for X-ALD (either proven by ABCD1 gene mutation analysis or obligate carrier on basis of family history)

Exclusion criteria

Exclusion criteria: - Age

Design outcomes

Primary

Measure	Time frame
1. Symptoms found by (neurologic) history and physical examination 2. Score on SF-36 and ALDS 3. Electrophysiological studies (EMG, SSEP, BAEP)	—

Secondary

Measure	Time frame
1. Biochemical parameters (plasma C26:0, ALDP expression in fibroblasts) 2. X-inactivation	—

Countries

Netherlands

Outcome results