PHARC syndrome

MONDO:0012984

Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.

Also known as: PHARC syndrome, peripheral neuropathy, Fiskerstrand type, PHARC, polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

6 clinical trials for this condition and its sub-types, 0 tagged with PHARC syndrome itself.

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Where it sits in the disease tree

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↑ Autosomal recessive disease (994) ↑ Hereditary peripheral neuropathy (478) ↑ Syndromic dyslipidemia (73) ↑ Disorder of phospholipids, sphingolipids and fatty acids biosynthesis (15)

Including sub-types (6) Tagged with PHARC syndrome (0)

Trials to join now! 4 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

PHARC syndrome

Where it sits in the disease tree

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