Phase 2, randomized, blinded, non-treatment-controlled study assessing the efficacy and safety of dimethyl fumarate in patients with NBIA, a neurodegeneration associated with brain iron accumulation.

Condition studied

Neurodegeneration with brain iron accumulation (NBIA), including pantothenate kinase-associated neurodegeneration (PKAN) and mitochondrial membrane protein-associated neurodegeneration (MPAN).

Investigational medicinal product(s)

Eligibility

Primary endpoint

Incidence of adverse events (AEs) and serious adverse events (SAEs) occurring during the 25-weeks period and in the open label extension phase., The primary efficacy endpoint is disease stabilization, assessed using the MPAN Disease Rating Scale (MPAN-DRS) in patients with MPAN and the PKAN Disease Rating Scale (PKAN-DRS) in patients with PKAN, considering an estimated annual disease progression of 10 points on these scales during the 25-weeks period.

Endpoint detail

The change from baseline in serum biomarkers of neurodegeneration (Tau, UCH L1, GFAP, NfL) between the treatment and control groups at the end of the 25 weeks period., The change from baseline in serum inflammation biomarker S100B between the treatment and control groups at the end of the 25 weeks period., The change from baseline in serum biomarkers of oxidative and metabolic stress (methylmalonic aldehyde, 4 HNE, GPx, 8 OHdG) between the treatment and control groups at the end of the 25 weeks period.