Management of CLN1 Disease: International Clinical Consensus

Abstract CLN1 disease (neuronal ceroid lipofuscinosis type 1) is a rare, genetic, neurodegenerative lysosomal storage disorder caused by palmitoyl protein thioesterase 1 (PPT1) enzyme deficiency with infantile-, late infantile-, juvenile-, and adult-onset phenotypes. Clinical features include developmental delay, psychomotor regression, seizures, ataxia, movement disorders, visual impairment, and early death. In general, the later the age at symptom onset, the more protracted the disease course. There is a limited evidence base for treatment and no clinical management guidelines to support clinicians who have not previously encountered patients with this rare disease. Fifteen CLN1 disease experts and 39 caregivers were surveyed regarding their experiences and recommendations, and a subset of 14 experts met to ascertain points of consensus and clinical practice differences. The resulting management recommendations are uniquely informed by family perspectives, due to the inclusion of caregivers and family advocates.