Cure My Disease

Don't miss your cure!

Log in / Sign up

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

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

Follow this condition — get notified about new trials

Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Peripheral nervous system disorder (107) Neuromuscular disease (98) Peripheral neuropathy (90) Human disease (14) Hereditary peripheral neuropathy (6) Hereditary neurological disease (5) Hereditary neuromuscular disease (3)

Trials to join now! 6 Not yet recruiting 1 Completed 1

Laser test could objectively measure nerve pain for first time

Diagnosis Completed

This study tested whether a diode laser can act as a biomarker to measure neuropathic pain in people with peripheral neuropathy. Researchers compared pain responses to a lidocaine patch versus a placebo patch in 75 participants. The goal was to see if the laser test could disting…

Phase: NA • Sponsor: University of Utah • Aim: Diagnosis

Last updated Jun 27, 2026 12:09 UTC