Leber Congenital Amaurosis Clinical Trials 2026 — Find Recruiting Studies

About Leber Congenital Amaurosis

Leber Congenital Amaurosis is a severe inherited retinal dystrophy that presents at birth or within the first year of life, making it the most common cause of inherited blindness in children. It results from mutations in over 25 genes involved in photoreceptor development and function, with RPE65 and CEP290 being the most frequently implicated. The first approved gene therapy for an inherited retinal disease (voretigene neparvovec) targets the RPE65 subtype, marking a landmark in rare disease treatment.

Common Clinical Features

Severe visual impairment or blindness from birth Nystagmus (involuntary rapid eye movements) Sluggish or absent pupillary light response Photophobia (light sensitivity) Oculodigital sign (eye poking or pressing) Extinguished or severely reduced electroretinogram (ERG) High hyperopia (farsightedness) in most subtypes Keratoconus in older patients

Clinical Trial Eligibility Tips

What to know before applying to Leber Congenital Amaurosis trials.

Confirm your specific gene mutation (e.g., RPE65, CEP290) before enrolling, as most trials are gene-specific and require documented pathogenic variants via molecular testing.

Residual retinal tissue is a common eligibility requirement; optical coherence tomography (OCT) and ERG are used to assess this, so have recent imaging available.

Age ranges vary widely by trial; some gene therapy trials prefer younger patients with more intact photoreceptor layers, so early enrolment inquiry is advisable.