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CYP7B1-related disorder of oxysterol accumulation

MONDO:1060107

Any disorder of oxysterol accumulation caused by biallelic loss of function variants in the CYP7B1 gene. A disorder of oxysterol accumulation is a condition where there is an abnormal buildup of oxysterols, which are oxidized cholesterol derivatives, in the body.

Also known as: CYP7B1-related disorder of oxysterol accumulation

2 clinical trials for this condition and its sub-types.

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Sub-types

Hereditary spastic paraplegia 5A (2) Congenital bile acid synthesis defect 3 (0)

Broader categories

Disease (680) Metabolic disease (233) Inherited lipid metabolism disorder (189) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Disease of genetic or genomic mechanism (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)

Trials to join now! 1 Completed 1

Could a cocktail of three drugs tame a rare paralyzing disease?

Disease control Completed

This phase 2 trial tested three drugs—Xenbilox, Tahor, and resveratrol—in 12 adults with SPG5, a rare genetic condition causing progressive leg weakness. The goal was to lower levels of a toxic cholesterol byproduct called 27-hydroxycholesterol. Each drug was taken for 2 months, …

Phase: PHASE2 • Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Disease control

Last updated Jun 26, 2026 12:36 UTC