Hereditary neuromuscular disease
MONDO:0100546A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness.
934 clinical trials for this condition and its sub-types, 3 tagged with Hereditary neuromuscular disease itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Hereditary neuromuscular disease
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Hereditary peripheral neuropathy 6 trials · 479 incl. sub-types
65 sub-types
- Carpal tunnel syndrome 165 trials Sub-types →
- Charcot-Marie-Tooth disease 52 trials · 78 incl. sub-types Sub-types →
- Familial amyloid neuropathy 52 trials · 54 incl. sub-types Sub-types →
- Hereditary sensory and autonomic neuropathy 52 trials · 54 incl. sub-types Sub-types →
- Proximal spinal muscular atrophy 14 trials · 42 incl. sub-types Sub-types →
- Metachromatic leukodystrophy 20 trials Sub-types →
- Krabbe disease 15 trials Sub-types →
- Sandhoff disease 13 trials Sub-types →
- Tay-Sachs disease 13 trials Sub-types →
- Chediak-Higashi syndrome 9 trials
- Leigh syndrome 9 trials Sub-types →
- Peroxisome biogenesis disorder 4 trials · 8 incl. sub-types Sub-types →
- Adrenomyeloneuropathy 7 trials
- Cerebrotendinous xanthomatosis 6 trials
- Kearns-Sayre syndrome 5 trials
- Distal hereditary motor neuropathy 0 trials · 4 incl. sub-types Sub-types →
- Hereditary neuropathy with liability to pressure palsies 4 trials
- Mitochondrial neurogastrointestinal encephalomyopathy 4 trials Sub-types →
- Ornithine aminotransferase deficiency 4 trials
- Pyruvate dehydrogenase deficiency 2 trials · 4 incl. sub-types Sub-types →
- NARP syndrome 3 trials
- Biotinidase deficiency 3 trials
- Coenzyme Q10 deficiency 3 trials Sub-types →
- Giant axonal neuropathy 2 trials · 3 incl. sub-types Sub-types →
- Hereditary motor and sensory neuropathy 3 trials Sub-types →
- Methylmalonic aciduria and homocystinuria type cblC 3 trials
- Mitochondrial DNA depletion syndrome 4a 3 trials
- Abetalipoproteinemia 2 trials
- Fumaric aciduria 2 trials
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2 trials
- Niemann-Pick disease type B 1 trial
- PRPS1 deficiency disorder 1 trial
- Adult polyglucosan body disease 1 trial
- Familial isolated deficiency of vitamin E 1 trial
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 trial
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 trial
- Neuropathy, congenital hypomelinating 0 trials · 1 incl. sub-types Sub-types →
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 trial Sub-types →
- Charcot-Marie-Tooth disease type 5 0 trials
- EMILIN-1-related connective tissue disease 0 trials
- Finnish type amyloidosis 0 trials
- PHARC syndrome 0 trials
- VPS13A-related neurodegenerative disease 0 trials
- Amyotrophic neuralgia 0 trials
- Ataxia - oculomotor apraxia type 4 0 trials
- Attenuated Chédiak-Higashi syndrome 0 trials
- Beta-mannosidosis 0 trials
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 0 trials
- Congenital trigeminal anesthesia 0 trials
- Familial episodic pain syndrome 0 trials Sub-types →
- Familial recurrent peripheral facial palsy 0 trials
- Hereditary motor and sensory neuropathy, Okinawa type 0 trials Sub-types →
- Hereditary sensory and autonomic neuropathy with spastic paraplegia 0 trials
- Infantile axonal neuropathy 0 trials
- Meralgia paraesthetica, familial 0 trials
- Neurodegeneration with brain iron accumulation 2A 0 trials
- Neuropathy with hearing impairment 0 trials
- Neuropathy, hereditary sensory and autonomic, type IId 0 trials
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy 0 trials
- Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 0 trials
- Oxoglutaricaciduria 0 trials
- Peripheral motor neuropathy, childhood-onset, biotin-responsive 0 trials
- Primary CD59 deficiency 0 trials
- Progressive demyelinating neuropathy with bilateral striatal necrosis 0 trials
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 0 trials
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Muscular dystrophy 74 trials · 289 incl. sub-types
11 sub-types
- DMD-related muscular dystrophy 0 trials · 146 incl. sub-types Sub-types →
- Progressive muscular dystrophy 2 trials · 125 incl. sub-types Sub-types →
- Congenital muscular dystrophy 1 trial · 9 incl. sub-types Sub-types →
- Distal myopathy 1 trial · 4 incl. sub-types Sub-types →
- LAMA2-related muscular dystrophy 2 trials · 3 incl. sub-types Sub-types →
- Fukuda-Miyanomae-Nakata syndrome 0 trials
- Muscular dystrophy, Barnes type 0 trials
- Muscular dystrophy, Hemizygous lethal type 0 trials
- Muscular dystrophy, Mabry type 0 trials
- Muscular dystrophy, cardiac type 0 trials
- Muscular dystrophy, progressive Pectorodorsal 0 trials
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Hereditary motor neuron disease 1 trial · 169 incl. sub-types
9 sub-types
- Spinal muscular atrophy 107 trials · 117 incl. sub-types Sub-types →
- Familial amyotrophic lateral sclerosis 2 trials · 29 incl. sub-types Sub-types →
- Lateral sclerosis 24 trials Sub-types →
- Riboflavin transporter deficiency 1 trial · 6 incl. sub-types Sub-types →
- Distal hereditary motor neuropathy 0 trials · 4 incl. sub-types Sub-types →
- ALS2-related motor neuron disease 0 trials Sub-types →
- Motor neuron disease with dementia and ophthalmoplegia 0 trials
- Neurogenic scapuloperoneal syndrome, Kaeser type 0 trials
- Prenatal-onset spinal muscular atrophy with congenital bone fractures 0 trials Sub-types →
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Hereditary spastic paraplegia 27 trials · 33 incl. sub-types
45 sub-types
- Complex hereditary spastic paraplegia 1 trial · 7 incl. sub-types Sub-types →
- Hereditary spastic paraplegia 50 3 trials
- Hereditary spastic paraplegia 3A 2 trials
- Hereditary spastic paraplegia 4 2 trials
- Hereditary spastic paraplegia 5A 2 trials
- Hereditary spastic paraplegia 47 1 trial
- Hereditary spastic paraplegia 51 1 trial
- Hereditary spastic paraplegia 52 1 trial
- Hereditary spastic paraplegia 7 1 trial
- ADAR-related hereditary spastic paraplegia 0 trials
- Charcot-Marie-Tooth disease type 5 0 trials
- IFIH1-related hereditary spastic paraplegia 0 trials
- RNASEH2B-related hereditary spastic paraplegia 0 trials
- Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 0 trials
- Hereditary spastic paraplegia 10 0 trials
- Hereditary spastic paraplegia 13 0 trials
- Hereditary spastic paraplegia 14 0 trials
- Hereditary spastic paraplegia 16 0 trials
- Hereditary spastic paraplegia 2 0 trials
- Hereditary spastic paraplegia 30 0 trials Sub-types →
- Hereditary spastic paraplegia 31 0 trials
- Hereditary spastic paraplegia 33 0 trials
- Hereditary spastic paraplegia 35 0 trials
- Hereditary spastic paraplegia 48 0 trials
- Hereditary spastic paraplegia 56 0 trials
- Hereditary spastic paraplegia 6 0 trials
- Hereditary spastic paraplegia 77 0 trials
- Macrocephaly-spastic paraplegia-dysmorphism syndrome 0 trials
- Mast syndrome 0 trials
- Pure hereditary spastic paraplegia 0 trials Sub-types →
- Pure or complex hereditary spastic paraplegia 0 trials
- Spastic paraplegia 72b, autosomal recessive 0 trials
- Spastic paraplegia 79A, autosomal dominant, with ataxia 0 trials
- Spastic paraplegia 80, autosomal dominant 0 trials
- Spastic paraplegia 81, autosomal recessive 0 trials
- Spastic paraplegia 82, autosomal recessive 0 trials
- Spastic paraplegia 83, autosomal recessive 0 trials
- Spastic paraplegia 87, autosomal recessive 0 trials
- Spastic paraplegia 88, autosomal dominant 0 trials
- Spastic paraplegia 89, autosomal recessive 0 trials
- Spastic paraplegia 90A, autosomal dominant 0 trials
- Spastic paraplegia 90B, autosomal recessive 0 trials
- Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia 0 trials
- Spastic paraplegia 92, autosomal recessive 0 trials
- Spastic paraplegia 93, autosomal recessive 0 trials
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Benign paroxysmal positional vertigo 18 trials
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Meniere disease 16 trials
3 sub-types
- Active cochlear Meniere disease 0 trials
- Active cochleovestibular Meniere disease 0 trials
- Active vestibular Meniere disease 0 trials
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RYR1-related myopathy 5 trials · 6 incl. sub-types
5 sub-types
- Central core myopathy 2 trials
- King-Denborough syndrome 0 trials
- Congenital multicore myopathy with external ophthalmoplegia 0 trials
- Congenital myopathy with myasthenic-like onset 0 trials
- Rhabdomyolysis-myalgia syndrome 0 trials
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Congenital myasthenic syndrome 5 trials
8 sub-types
- Postsynaptic congenital myasthenic syndrome 0 trials · 2 incl. sub-types Sub-types →
- Presynaptic congenital myasthenic syndrome 0 trials · 1 incl. sub-types Sub-types →
- Congenital myasthenic syndrome 15 0 trials
- Congenital myasthenic syndrome 5 0 trials
- Congenital myasthenic syndrome with tubular aggregates 0 trials Sub-types →
- Myasthenia, congenital, refractory to acetylcholinesterase inhibitors 0 trials
- Myasthenic syndrome, congenital, 22 0 trials
- Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive 0 trials
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Malignant hyperthermia of anesthesia 5 trials
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SCN4A-related channelopathy 1 trial · 2 incl. sub-types
4 sub-types
- Hyperkalemic periodic paralysis 1 trial
- Paramyotonia congenita of Von Eulenburg 1 trial
- Hypokalemic periodic paralysis, type 2 0 trials
- Potassium-aggravated myotonia 0 trials Sub-types →
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Andersen-Tawil syndrome 0 trials
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CNGB3-related retinopathy 0 trials
1 sub-type
- Achromatopsia 3 0 trials
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KY-related neuromyopathy 0 trials
2 sub-types
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Myofibrillar myopathy 1 0 trials
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Vertigo, benign recurrent, 1 0 trials
Most studied deeper sub-types
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Spinal injection drug targets genetic cause of ALS and dementia
Disease control Stopped earlyResearchers are testing repeated doses of an experimental drug called WVE-004 in adults who have ALS, frontotemporal dementia, or both, linked to a mutation in the C9orf72 gene. Participants receive the drug by spinal injection every 12 weeks for up to 96 weeks. The study tracks …
Phase 1/2 • Sponsor: Wave Life Sciences USA, Inc. • Aim: Disease control
Last updated Sep 11, 2026 00:00 UTC
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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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Warming blankets and fluids tested to prevent hypothermia in C-Section births
Disease control Stopped earlyThis study tested different warming methods—like forced air blankets and warmed IV fluids—to prevent hypothermia in women having planned C-sections. Only 16 women participated before the trial was stopped early. The goal was to see which method best keeps mother and baby warm and…
Sponsor: The University of Texas Health Science Center, Houston • Aim: Disease control
Last updated Jun 27, 2026 12:34 UTC
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DMD drug tested in wheelchair users – but trial stops early
Disease control Stopped earlyThis study tested the safety of golodirsen (Vyondys 53) in boys and men with Duchenne muscular dystrophy who can no longer walk. Only 2 people took part before the trial was stopped early. Participants received weekly IV infusions for up to 96 weeks, with extra follow-up. The goa…
Phase 4 • Sponsor: Rare Disease Research, LLC • Aim: Disease control
Last updated Jun 27, 2026 12:03 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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Gene therapy zolgensma tested in kids with SMA who can sit but not stand
Disease control Stopped earlyThis phase 1 trial tested a gene therapy called AVXS-101 (Zolgensma) in 32 children with spinal muscular atrophy (SMA) who could sit but not stand or walk. The therapy delivers a working SMN gene via a spinal injection to help improve muscle function. The study focused on safety …
Phase 1 • Sponsor: Novartis Gene Therapies • Aim: Disease control
Last updated Jun 27, 2026 08:14 UTC
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Experimental gene therapy for rare muscle disease shows early promise but study halted
Disease control Stopped earlyThis study tested a gene therapy called SRP-9003 for people with limb-girdle muscular dystrophy type 2E (LGMD2E), a rare genetic disease that causes muscle weakness. The treatment aimed to deliver a working gene to muscle cells to help them produce a missing protein. Only 6 peopl…
Phase 1/2 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 08:12 UTC
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ALS drug trial halted: safety data sought from 54 patients
Disease control Stopped earlyThis study tested a new drug called VRG50635 in 54 people with ALS (Lou Gehrig's disease). The main goal was to check if the drug is safe and how the body processes it. The trial was stopped early, but researchers were looking for side effects and changes in disease progression.
Phase 1 • Sponsor: Verge Genomics • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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Experimental drug losmapimod tested in rare muscle disease – early hopes, but trial cut short
Disease control Stopped earlyThis study tested an experimental drug called losmapimod in 14 adults with FSHD1, a rare genetic condition that causes progressive muscle weakness. The main goal was to check safety and tolerability, and to see if the drug affects certain biological markers. The trial was termina…
Phase 2 • Sponsor: Fulcrum Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 08:01 UTC
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New drug trial for duchenne MD halted early – what we know
Disease control Stopped earlyThis phase 2 study tested a drug called PGN-EDO51 in 7 people with Duchenne muscular dystrophy whose genetic mutation can be corrected by skipping exon 51. The drug was given by IV infusion to see if it is safe and tolerable. The trial was terminated, so results are limited.
Phase 2 • Sponsor: PepGen Inc • Aim: Disease control
Last updated Jun 27, 2026 08:01 UTC
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Experimental gene therapy for DMD hits antibody barrier – study halted
Disease control Stopped earlyThis study tested a gene therapy (delandistrogene moxeparvovec) combined with a drug called imlifidase to see if it could safely deliver the therapy to boys with Duchenne muscular dystrophy who had antibodies that might block the treatment. Only 5 participants were planned, but t…
Phase 1 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 07:59 UTC
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FSHD drug trial halted midway: what happened?
Disease control Stopped earlyThis study tested a drug called losmapimod for people with a rare muscle-weakening disease called FSHD. The goal was to see if the drug could slow muscle loss and improve arm function over 48 weeks. About 260 adults with FSHD were randomly assigned to receive either losmapimod or…
Phase 3 • Sponsor: Fulcrum Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 07:56 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 gene therapy targets duchenne MD in young boys
Disease control Stopped earlyThis Phase 2 trial tested a single dose of gene therapy (fordadistrogene movaparvovec) in 10 boys with early-stage Duchenne muscular dystrophy. The goal was to check safety and whether the therapy could help muscles produce a mini-dystrophin protein. The study was terminated earl…
Phase 2 • Sponsor: Pfizer • Aim: Disease control
Last updated Jun 27, 2026 07:55 UTC
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Gene therapy for duchenne muscular dystrophy under Long-Term watch
Disease control Stopped earlyThis study follows 7 people with Duchenne muscular dystrophy who previously received an experimental gene therapy called fordadistrogene movaparvovec. Researchers will monitor them for 10 years to check for side effects and see if the treatment continues to help with movement. Th…
Phase 3 • Sponsor: Pfizer • Aim: Disease control
Last updated Jun 27, 2026 07:55 UTC
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Experimental drug losmapimod tested for rare muscle disease
Disease control Stopped earlyThis phase 2 trial tested the drug losmapimod in 76 adults with FSHD, a genetic condition that causes progressive muscle weakness. Participants took either losmapimod or a placebo for 48 weeks to see if the drug was safe and could help control the disease. The study was terminate…
Phase 2 • Sponsor: Fulcrum Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 07:52 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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Gene therapy trial for duchenne MD halted early – what we know
Disease control Stopped earlyThis early-stage trial tested a single infusion of gene therapy (PF-06939926) in 23 people with Duchenne muscular dystrophy, both those who could still walk and those who could not. The main goal was to check safety and tolerability, while also measuring dystrophin protein levels…
Phase 1 • Sponsor: Pfizer • Aim: Disease control
Last updated Jun 26, 2026 17:12 UTC
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Can plasma exchange clear the way for gene therapy in duchenne?
Disease control Stopped earlyThis early study tested whether a blood-cleaning procedure called plasmapheresis could allow boys with Duchenne muscular dystrophy who have antibodies against the gene therapy carrier to still receive the treatment. Only 3 boys were enrolled before the study was stopped early. Th…
Phase 1 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 26, 2026 14:20 UTC
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Experimental gene therapy for rare muscle disease tested in just 2 people
Disease control Stopped earlyThis was a very early (Phase 1) study testing a gene therapy called SRP-6004 for people with limb girdle muscular dystrophy type 2B/R2, a rare muscle-weakening disease. The goal was to see if a single IV infusion of the therapy is safe and can help the body produce a missing prot…
Phase 1 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 26, 2026 14:20 UTC
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Experimental gene therapy tested for rare muscular dystrophy
Disease control Stopped earlyThis early-stage trial tested a gene therapy called SRP-9004 in just 4 people with limb girdle muscular dystrophy type 2D/R3, a rare muscle-weakening disease. The main goal was to check safety, not effectiveness. The study was terminated early, so results are limited.
Phase 1 • Sponsor: Sarepta Therapeutics, Inc. • Aim: Disease control
Last updated Jun 26, 2026 13:47 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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Gut hormone shot aims to strengthen fragile bones in kids with muscle diseases
Knowledge-focused Stopped earlyThis study tested whether two gut hormones, GIP and GLP-2, could reduce bone breakdown in children with spinal muscular atrophy, cerebral palsy, or Duchenne muscular dystrophy who use wheelchairs. Participants received a liquid meal and then either a hormone injection or a placeb…
Sponsor: University of Copenhagen • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:08 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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One-Person study aims to unlock FSHD mysteries
Knowledge-focused Stopped earlyThis study looked at one person with facioscapulohumeral muscular dystrophy (FSHD) to better understand the disease. Researchers examined muscle tissue and checked for specific biomarkers. The goal was to learn more about how FSHD affects the body, not to test a treatment.
Sponsor: Nationwide Children's Hospital • Aim: Knowledge-focused
Last updated Jun 26, 2026 17:43 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