RecruitingPhase 1 / Phase 2NCT07511556
Neuromuscular
GNE Myopathy
Also known as hereditary inclusion body myopathy, HIBM, Nonaka myopathy, distal myopathy with rimmed vacuoles
GNE Myopathy is an autosomal recessive progressive myopathy caused by bi-allelic mutations in the GNE gene encoding UDP-GlcNAc 2-epimerase/ManNAc kinase, the rate-limiting enzyme in sialic acid biosynthesis. It presents with distal lower li
ORPHA:602 ↗Gene GNEPrevalence Less than 1 in 1,000,000 (more prevalent in Iranian Jewish and Japanese populations)Onset Young adulthood (typically 20s–30s)Autosomal recessive
1
studies recruiting now
as of 7 Sept 2026
18
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
6 Apr 2026
most recent study posted
among recruiting studies
Recruiting trials
Showing the 1 most recently updated recruiting study, as recorded 7 Sept 2026. Live status on each study page.
Search all GNE Myopathy studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
Keep watching
Get an email when a new GNE Myopathy study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
Registry: HIBM Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
About GNE Myopathy
GNE Myopathy is an autosomal recessive progressive myopathy caused by bi-allelic mutations in the GNE gene encoding UDP-GlcNAc 2-epimerase/ManNAc kinase, the rate-limiting enzyme in sialic acid biosynthesis. It presents with distal lower limb weakness (tibialis anterior) with characteristic sparing of the quadriceps, even in advanced disease, and progresses to involve the upper limbs and hip girdle. Histopathologically, muscle biopsy shows rimmed vacuoles, and the disease is distinct from the acquired sporadic IBM.
Common clinical features
Foot drop due to tibialis anterior weakness (initial symptom)Steppage gait and frequent fallsCharacteristic relative sparing of quadriceps muscleProgressive upper limb and proximal weakness in later stagesLoss of ambulation typically within 10–20 years of onsetDysphagia in advanced diseaseRimmed vacuoles and filamentous inclusions on muscle biopsy
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for GNE Myopathy. Not eligibility rules; those are set by each study.
- Bi-allelic GNE mutations are required; in Iranian Jewish patients, the founder mutation p.M712T (c.2135A>C) is highly prevalent — a targeted mutation test may be faster than full sequencing
- Sialic acid supplementation trials (aceneuramic acid/SA-ER) use muscle strength and 6MWD as primary endpoints; pre-trial physiotherapy assessment documenting distal and proximal strength is essential
- Quadriceps strength preservation relative to other muscle groups is a key diagnostic hallmark — MRI or ultrasound documentation of muscle involvement pattern may support eligibility
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).