The ABCD1 gene encodes the adrenoleukodystrophy protein (ALDP), a peroxisomal membrane-bound protein that facilitates the transport and degradation of very long chain fatty acids (VLCFA) by peroxisomes inside of cells. The ABCD2 gene encodes a functionally-related protein, adrenoleukodystrophy-related protein (ALDRP), which is also expressed on the peroxisomal membrane and mediates the uptake and degradation of VLCFA.
NV1205 (sobetirome) is an orally administered clinical-stage drug candidate that was shown to be safe and well-tolerated in Phase 1 clinical studies. In preclinical studies in ABCD1-knockout mice, NV1205 significantly lowered VLCFA in the brain and adrenal tissue following oral administration, the two main sites of pathology of the disease.
Because NV1205 targets the underlying metabolic defect in X-ALD patients, it has the potential to be a disease modifying drug capable of treating all phenotypes of X-ALD.