Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN

Figure 1

Mode of Action, Pharmacokinetics, and Clinical Effects of Fosmetpantotenate. (a) Diagram showing the metabolic pathway from pantothenic acid to coenzyme A with the pantothenate kinase defect found in PKAN patients and the bypassing effect of fosmetpantotenate. (b) Whole blood concentrations of fosmetpantotenate and metabolites over time following a 1 mg/kg oral dose on Day 7 of treatment. (c–f) Clinical evaluations before and after 58 weeks of treatment with fosmetpantotenate. (c) Unified Parkinson’s Disease Rating Scale (UPDRS) including parts C and D and total score. (d) Timed 25-foot gait test including number of steps and time to complete (arrows in diagrams (c) and (d) indicate (i) interruption of treatment; (ii) restarting treatment at half dose). (e) Quality of life scale (EQ-5D-3L). (f) Barry-Albright Dystonia Scale. (g-h) Representative illustrations of electroglottographic analysis [8] before (g) and two weeks after (h) starting treatment showing individual /pa/ segmentation. Before treatment there is an apparent trend to prolong the vowel while after medication there is a significant improvement in the production of /pa/.

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