Phenotype prediction in patients with X-linked adrenoleukodystrophy: a prospective study. - Phenotype prediction in X-ALD.

Academisch Medisch Centrum0 个研究点目标入组 125 人开始时间: 待定最近更新: 2024年4月23日

适应症

试验速览

暂无简介。

•- male patients with X-ALD (confirmed by ABCD1 mutation analysis)
•- age for which follow-up is normally recommended (2 years and older)
•- willing to undergo regular follow-up visits (twice yearly if < 12 years and yearly if > 12 years) with blood sampling and MRI scan of the brain.
•- Informed consent obtained from participant or legal guardian in case of a minor;For the additional MRI sequences at 7-Tesla participants must meet these additional criteria:
•- Age 18 years or older
•- Supplementary informed consent procedure;Subjects eligible to participate as healthy controls must meet all of the following criteria:
•- Willing to visit the hospital
•- 12 years or older
•- For administration of gadolinium: age 18 years or older
•- Informed consent obtained from participant
•- Informed consent obtained from participant or legal guardian in case of a minor

•- unable to visit the hospital for follow-up (for instance, due to advanced disease)
•- co-existing neurological disease making interpretation of acquired data difficult (for instance, multiple sclerosis);A potential healthy control who meets any of the following criteria will be excluded from participation in this study:
•- neurological disease (because this would impede accurate interpretation of the MRI imaging data)

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