Hereditary peripheral neuropathy
MONDO:0020127An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual.
Also known as: genetic peripheral neuropathy
482 clinical trials for this condition and its sub-types, 6 tagged with Hereditary peripheral neuropathy itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Hereditary peripheral neuropathy
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Carpal tunnel syndrome 165 trials
2 sub-types
- Carpal tunnel syndrome 1 0 trials
- Carpal tunnel syndrome 2 0 trials
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Charcot-Marie-Tooth disease 51 trials · 77 incl. sub-types
24 sub-types
- Charcot-Marie-Tooth disease type 1 4 trials · 40 incl. sub-types Sub-types →
- Charcot-Marie-Tooth disease type 2 3 trials · 9 incl. sub-types Sub-types →
- Charcot-Marie-Tooth disease type 4 0 trials · 5 incl. sub-types Sub-types →
- Intermediate Charcot-Marie-Tooth disease 0 trials · 3 incl. sub-types Sub-types →
- Charcot-Marie-Tooth disease type X 1 trial · 2 incl. sub-types Sub-types →
- Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 1 trial
- Charcot-Marie-Tooth disease type 3 0 trials
- Charcot-Marie-Tooth disease with ptosis and parkinsonism 0 trials
- Charcot-Marie-Tooth disease, Guadalajara neuronal type 0 trials
- Charcot-Marie-Tooth disease, axonal, IIa 2II 0 trials
- Charcot-Marie-Tooth disease, axonal, Type 2HH 0 trials
- Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 0 trials
- Charcot-Marie-Tooth disease, axonal, type 2FF 0 trials
- Charcot-Marie-Tooth disease, axonal, type 2KK 0 trials
- Charcot-Marie-Tooth disease, axonal, type 2LL 0 trials
- Charcot-Marie-Tooth disease, demyelinating, IIA 1H 0 trials
- Charcot-Marie-Tooth disease, demyelinating, IIA 1I 0 trials
- Charcot-Marie-Tooth disease, demyelinating, type 1G 0 trials
- Charcot-Marie-Tooth disease, demyelinating, type 1J 0 trials
- Charcot-Marie-tooth disease, axonal, type 2JJ 0 trials
- Charcot-marie-tooth disease, axonal, type 2MM 0 trials
- Demyelinating hereditary motor and sensory neuropathy 0 trials
- Neuronopathy, distal hereditary motor, autosomal dominant 1 0 trials
- Neuropathy, hereditary motor and sensory, type 6A 0 trials
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Familial amyloid neuropathy 52 trials · 54 incl. sub-types
4 sub-types
- Amyloidosis, hereditary systemic 1 0 trials · 10 incl. sub-types Sub-types →
- Amyloidosis, hereditary systemic 3 0 trials
- Amyloidosis, hereditary systemic 5 0 trials
- Amyloidosis, hereditary systemic 6 0 trials
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Hereditary sensory and autonomic neuropathy 52 trials · 54 incl. sub-types
13 sub-types
- Hereditary sensory and autonomic neuropathy type 1 0 trials · 2 incl. sub-types Sub-types →
- X-linked hereditary sensory and autonomic neuropathy with hearing loss 0 trials
- Cold-induced sweating syndrome - hyperthermia spectrum 0 trials Sub-types →
- Congenital insensitivity to pain with hyperhidrosis 0 trials
- Congenital insensitivity to pain-hypohidrosis syndrome 0 trials
- Hereditary sensory and autonomic neuropathy type 2 0 trials Sub-types →
- Hereditary sensory and autonomic neuropathy type 4 0 trials
- Hereditary sensory and autonomic neuropathy type 5 0 trials
- Hereditary sensory and autonomic neuropathy type 6 0 trials
- Hereditary sensory and autonomic neuropathy type 7 0 trials
- Hereditary sensory neuropathy X-linked 0 trials
- Neuropathy, hereditary sensory, atypical 0 trials
- Polyneuropathy-hand defect syndrome 0 trials
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Proximal spinal muscular atrophy 14 trials · 42 incl. sub-types
6 sub-types
- Spinal muscular atrophy, type 1 17 trials
- Spinal muscular atrophy, type II 14 trials
- Spinal muscular atrophy, type III 13 trials
- Spinal muscular atrophy, type IV 2 trials
- Autosomal dominant childhood-onset proximal spinal muscular atrophy 0 trials Sub-types →
- Lower motor neuron syndrome with late-adult onset 0 trials
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Metachromatic leukodystrophy 20 trials
2 sub-types
- Metachromatic leukodystrophy, juvenile form 2 trials · 4 incl. sub-types Sub-types →
- Metachromatic leukodystrophy due to saposin B deficiency 0 trials
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Krabbe disease 15 trials
3 sub-types
- Infantile Krabbe disease 2 trials
- Adult Krabbe disease 0 trials
- Late-infantile/juvenile Krabbe disease 0 trials
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Sandhoff disease 13 trials
3 sub-types
- Sandhoff disease, adult form 1 trial
- Sandhoff disease, infantile form 0 trials
- Sandhoff disease, juvenile form 0 trials
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Tay-Sachs disease 13 trials
4 sub-types
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Chediak-Higashi syndrome 9 trials
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Leigh syndrome 9 trials
4 sub-types
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Peroxisome biogenesis disorder 4 trials · 8 incl. sub-types
2 sub-types
- Zellweger spectrum disorders 6 trials · 7 incl. sub-types Sub-types →
- Non-Zellweger spectrum disorder 0 trials · 1 incl. sub-types Sub-types →
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Adrenomyeloneuropathy 7 trials
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Cerebrotendinous xanthomatosis 6 trials
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Kearns-Sayre syndrome 5 trials
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4 sub-types
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Pyruvate dehydrogenase deficiency 2 trials · 4 incl. sub-types
7 sub-types
- Pyruvate dehydrogenase E1-alpha deficiency 2 trials
- Pyruvate dehydrogenase E3 deficiency 1 trial
- Lipoic acid synthetase deficiency 0 trials
- Pyruvate dehydrogenase E1-beta deficiency 0 trials
- Pyruvate dehydrogenase E2 deficiency 0 trials
- Pyruvate dehydrogenase E3-binding protein deficiency 0 trials
- Pyruvate dehydrogenase phosphatase deficiency 0 trials
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Distal hereditary motor neuropathy 0 trials · 4 incl. sub-types
3 sub-types
- Neuronopathy, distal hereditary motor, autosomal recessive 0 trials · 4 incl. sub-types Sub-types →
- X-linked distal spinal muscular atrophy type 3 0 trials
- Neuronopathy, distal hereditary motor, autosomal dominant 0 trials Sub-types →
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NARP syndrome 3 trials
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Biotinidase deficiency 3 trials
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Coenzyme Q10 deficiency 3 trials
10 sub-types
- COQ7-related distal hereditary motor neuropathy 0 trials
- Autosomal recessive ataxia due to ubiquinone deficiency 0 trials
- Coenzyme Q10 deficiency, primary, 1 0 trials
- Coenzyme Q10 deficiency, primary, 3 0 trials
- Coenzyme q10 deficiency, primary, 9 0 trials
- Deafness-encephaloneuropathy-obesity-valvulopathy syndrome 0 trials
- Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 0 trials
- Familial steroid-resistant nephrotic syndrome with sensorineural deafness 0 trials
- Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 0 trials
- Primary coenzyme Q10 deficiency 8 0 trials
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8 sub-types
- Autosomal dominant slowed nerve conduction velocity 0 trials
- Demyelinating hereditary motor and sensory neuropathy 0 trials
- Hereditary motor and sensory neuropathy type 6 0 trials Sub-types →
- Hereditary motor and sensory neuropathy with acrodystrophy 0 trials
- Hereditary sensorimotor neuropathy with hyperelastic skin 0 trials
- Hereditary thermosensitive neuropathy 0 trials
- Polyneuropathy-hand defect syndrome 0 trials
- Severe early-onset axonal neuropathy due to MFN2 deficiency 0 trials
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Giant axonal neuropathy 2 trials · 3 incl. sub-types
2 sub-types
- Giant axonal neuropathy 1 1 trial
- Giant axonal neuropathy 2 0 trials
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Abetalipoproteinemia 2 trials
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Fumaric aciduria 2 trials
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Niemann-Pick disease type B 1 trial
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PRPS1 deficiency disorder 1 trial
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Adult polyglucosan body disease 1 trial
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1 sub-type
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Neuropathy, congenital hypomelinating 0 trials · 1 incl. sub-types
3 sub-types
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Charcot-Marie-Tooth disease type 5 0 trials
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Finnish type amyloidosis 0 trials
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PHARC syndrome 0 trials
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Amyotrophic neuralgia 0 trials
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Ataxia - oculomotor apraxia type 4 0 trials
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Attenuated Chédiak-Higashi syndrome 0 trials
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Beta-mannosidosis 0 trials
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Congenital trigeminal anesthesia 0 trials
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Familial episodic pain syndrome 0 trials
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1 sub-type
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Infantile axonal neuropathy 0 trials
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Meralgia paraesthetica, familial 0 trials
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Neuropathy with hearing impairment 0 trials
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Oxoglutaricaciduria 0 trials
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Primary CD59 deficiency 0 trials
Most studied deeper sub-types
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Halted gene therapy study raises questions for AMN patients
Disease control Stopped earlyThis early-stage trial tested a gene therapy called SBT101 for adrenomyeloneuropathy (AMN), a rare nerve disease that causes walking difficulties. Eight adults received either the therapy or a sham procedure. The study was terminated early, so we have limited data on safety and e…
Phase 1/2 • Sponsor: SwanBio Therapeutics, Inc. • Aim: Disease control
Last updated Aug 28, 2026 00:00 UTC
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Genetic clues could personalize breast cancer treatment
Disease control Stopped earlyThis study looks at genetic changes in postmenopausal women with a common type of advanced breast cancer (HR+ HER2-). Participants first receive ribociclib plus letrozole; those with a specific mutation (PIK3CA) may later switch to alpelisib plus fulvestrant. The goal is to track…
Phase 3 • Sponsor: Novartis Pharmaceuticals • Aim: Disease control
Last updated Jul 12, 2026 00:00 UTC
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Experimental cancer drug study halted early
Disease control Stopped earlyThis early-stage study tested a new drug called PF-07284892, alone or with other medicines, in people with advanced solid tumors that had specific genetic changes. The goal was to find the safest dose and check for side effects. The study was stopped early, so results are limited…
Phase 1 • Sponsor: Pfizer • Aim: Disease control
Last updated Jun 27, 2026 13:02 UTC
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New pill for rheumatoid arthritis shows promise in early trial
Disease control Stopped earlyThis phase 2 study tested an experimental oral drug called BGB-45035 in 49 adults with moderate to severe rheumatoid arthritis who had not responded well to standard treatments. Participants received either the drug or a placebo to see if it could reduce joint pain and swelling. …
Phase 2 • Sponsor: BeiGene • Aim: Disease control
Last updated Jun 27, 2026 12:39 UTC
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New drug aims to tame hard-to-control seizures in rare mitochondrial disorders
Disease control Stopped earlyThis study tested a drug called vatiquinone in 68 people with mitochondrial disease and epilepsy that doesn't respond to standard treatments. Participants were randomly assigned to receive either vatiquinone or a placebo for 24 weeks to see if the drug could reduce the number of …
Phase 2/3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 12:03 UTC
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Hope fades: trial of Tay-Sachs drug venglustat terminated early
Disease control Stopped earlyThis Phase 3 trial tested an oral drug called venglustat in 75 adults and children with late-onset Tay-Sachs or Sandhoff disease, rare genetic disorders that cause progressive nerve damage. The drug aimed to lower toxic fat buildup in the brain and slow disease worsening. However…
Phase 3 • Sponsor: Genzyme, a Sanofi Company • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC
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Experimental cell therapy targets deadly childhood brain cancer
Disease control Stopped earlyThis early-phase trial tested a new immunotherapy approach for children with DIPG, a rare and aggressive brain stem tumor. After standard radiation and chemotherapy, patients received special vaccines and immune cells designed to attack the tumor. The study was small (11 particip…
Phase 1 • Sponsor: University of Florida • Aim: Disease control
Last updated Jun 27, 2026 07:55 UTC
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Experimental drug zavesca tested for rare fatal brain diseases in infants
Disease control Stopped earlyThis phase 3 trial tested the drug miglustat (Zavesca) in 30 infants with Sandhoff or Tay-Sachs diseases, rare genetic disorders that destroy nerve cells. The goal was to see if the drug could reduce hospitalizations, seizures, and feeding problems while improving motor function.…
Phase 3 • Sponsor: Tehran University of Medical Sciences • Aim: Disease control
Last updated Jun 26, 2026 17:51 UTC
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Experimental gene therapy targets Tay-Sachs and sandhoff in kids
Disease control Stopped earlyThis early-stage trial tested a gene therapy called AXO-AAV-GM2 in children with Tay-Sachs or Sandhoff disease, rare and fatal genetic brain disorders. The therapy delivers healthy genes directly into the brain and spinal fluid to try to restore a missing enzyme. The study was te…
Phase 1 • Sponsor: Terence Flotte • Aim: Disease control
Last updated Jun 26, 2026 13:03 UTC
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Does mixing numbing agent into steroid shots ease hand pain?
Symptom relief Stopped earlyDoctors often treat trigger finger, de Quervain's tenosynovitis, and carpal tunnel syndrome with steroid injections. Some mix in a local anaesthetic to reduce pain after the shot, while others do not. This trial compares pain levels in adults who receive a steroid injection with …
Phase 3 • Sponsor: University Hospital Plymouth NHS Trust • Aim: Symptom relief
Last updated Sep 19, 2026 00:00 UTC
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Tiny incision, big relief? ultrasound procedure challenges carpal tunnel surgery
Symptom relief Stopped earlyThis study compared a new, minimally invasive ultrasound-guided procedure to standard surgery for carpal tunnel syndrome. The goal was to see if the new technique could provide similar relief with a smaller incision and faster recovery. Only 7 people were enrolled before the stud…
Sponsor: GCS Ramsay Santé pour l'Enseignement et la Recherche • Aim: Symptom relief
Last updated Jul 18, 2026 00:00 UTC
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Can a blood injection boost carpal tunnel surgery results?
Symptom relief Stopped earlyThis study looked at whether adding platelet-rich plasma (PRP) to standard carpal tunnel release surgery helps people with severe carpal tunnel syndrome. The trial planned to enroll 15 adults with severe nerve damage. It compared surgery with PRP to surgery alone. The study was t…
Sponsor: Michael Fredericson, MD • Aim: Symptom relief
Last updated Jun 27, 2026 12:26 UTC
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Could a simple blood test track nerve damage? a study investigates NT-3 levels in neuropathy.
Knowledge-focused Stopped earlyThis 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
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Tafamidis tablet vs capsule: which works better?
Knowledge-focused Stopped earlyThis early-stage study aimed to compare how a tablet form of tafamidis is absorbed in the body compared to the existing capsule form. It involved 24 healthy adults who took a single dose of each form under fed conditions. The study was terminated early, so results may be limited.
Phase 1 • Sponsor: Pfizer • Aim: Knowledge-focused
Last updated Jun 28, 2026 00:00 UTC
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Rare disease mystery: scientists watch AMN progress in hopes of finding a cure
Knowledge-focused Stopped earlyThis study followed 65 adult men with a rare inherited nerve disease called AMN (a form of spastic paraplegia) to understand how their symptoms change over time. Researchers collected data on walking ability and quality of life. The goal was to fill gaps in knowledge about the di…
Sponsor: SwanBio Therapeutics, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC
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Hidden heart condition: study seeks to uncover missed diagnosis in heart failure patients
Knowledge-focused Stopped earlyThis study aims to find out how common transthyretin amyloidosis cardiomyopathy (ATTR-CM) is in Russian patients with a certain type of heart failure. Researchers will review medical records and then invite some patients for extra heart tests to confirm or rule out ATTR-CM. The g…
Sponsor: AstraZeneca • Aim: Knowledge-focused
Last updated Jun 26, 2026 17:47 UTC
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Gene therapy for krabbe disease: did it last?
Knowledge-focused Stopped earlyThis study follows up on children with Krabbe disease who received a one-time gene therapy infusion (FBX-101) in earlier trials. Researchers will monitor safety and measure motor skills over time. Only 2 participants are enrolled, so results are very limited.
Sponsor: Forge Biologics, Inc • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:47 UTC