Discovery Programs

We also have three programs in the discovery and candidate selection stage, PBML04 for Metachromatic leukodystrophy (MLD), PBAL05 for Amyotrophic lateral sclerosis (ALS) and PBCM06 for Charcot-Marie-Tooth Neuropathy Type 2A (CMT2A).

  • PBML04: Targeting MLD, a monogenic autosomal recessive sphingolipid storage disease caused by mutations in the gene encoding the lysosomal enzyme ARSA. Patients with MLD display progressive leukodystrophy (demyelination) in the central nervous system (CNS) and PNS, neuronal cell death, and subsequent loss of all motor and cognitive function, resulting in premature death, especially in patients with early disease onset.
  • PBAL05: Targeting ALS patients that has a gain-of-function mutation in the C9orf72 gene. ALS is a motor neuron disease characterized by rapid degeneration of upper and lower motor neurons, leading to progressive weakness and premature death. Most cases of ALS are sporadic with an unknown etiology, but there are also genetic forms of the disease inherited in an autosomal dominant fashion. Mutations in the C9orf72 gene are the most common genetic defects implicated in ALS, accounting for approximately 34% of familial ALS cases and approximately 5% of sporadic ALS cases.
  • PBCM06: Targeting CMT2A a monogenic disease caused by mitofuscion (MFN2) gene mutations associated with CMT2A, which is a neurological disorder that presents complex phenotypes, including not only neuropathy-related features but also systemic impairment of the CNS. CMT2A is the most frequent axonal form of CMT, accounting for approximately 20% of the diagnosed cases.

We are currently coordinating with the University of Pennsylvania's Gene Therapy Program to conduct discovery stage preclinical studies for these programs.