GNE Myopathy Clinical Trials 2026 — Find Recruiting Studies

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 falls Characteristic relative sparing of quadriceps muscle Progressive upper limb and proximal weakness in later stages Loss of ambulation typically within 10–20 years of onset Dysphagia in advanced disease Rimmed vacuoles and filamentous inclusions on muscle biopsy

Clinical Trial Eligibility Tips

What to know before applying to GNE Myopathy trials.

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