PRPS1 deficiency disorder

MONDO:0100061

A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss.

Also known as: PRPS1 deficiency disorder, PRPS1-related CMTX5/Arts syndrome/XLNSHL

7 clinical trials for this condition and its sub-types, 1 tagged with PRPS1 deficiency disorder itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary peripheral neuropathy (478)

Including sub-types (7) Tagged with PRPS1 deficiency disorder (1)

Trials to join now! 5 Completed 1 Terminated 1

Could a simple blood test track nerve damage? a study investigates NT-3 levels in neuropathy.

Knowledge-focused Stopped early

This study measures levels of a protein called NT-3 in the blood of people with peripheral neuropathy or Charcot-Marie-Tooth disease. Researchers will compare these levels with measures of muscle strength, mobility, and daily function. The goal is to see whether NT-3 levels corre…

Sponsor: Zarife Sahenk • Aim: Knowledge-focused

Last updated Jul 31, 2026 00:00 UTC

PRPS1 deficiency disorder

Where it sits in the disease tree

Could a simple blood test track nerve damage? a study investigates NT-3 levels in neuropathy.