| Autor: |
Darius Adams, Mark Midei, Jahannaz Dastgir, Christina Flora, Robert J Molinari, Frederic Heerinckx, Sarah Endemann, Paldeep Atwal, Peter Milner, Mikhail S. Shchepinov |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
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| Zdroj: |
JIMD Reports, Vol 54, Iss 1, Pp 54-60 (2020) |
| Druh dokumentu: |
article |
| ISSN: |
2192-8312 |
| DOI: |
10.1002/jmd2.12116 |
| Popis: |
Abstract Background Infantile neuroaxonal dystrophy (INAD) is a rare, autosomal recessive disease due to defects in PLA2G6 and is associated with lipid peroxidation. RT001 is a di‐deuterated form of linoleic acid that protects lipids from oxidative damage. Methods We evaluated the pharmacokinetics (PK), safety, and effectiveness of RT001 in two subjects with INAD (subject 1: 34 months; subject 2: 10 months). After screening and baseline evaluations, subjects received 1.8 g of RT001 BD. PK analysis and clinical evaluations were made periodically. Main findings Plasma levels of deuterated linoleic acid (D2‐LA), deuterated arachidonic acid (D2‐AA), D2‐LA to total LA, and D2‐AA to total AA ratios were measured. The targeted plasma D2‐LA ratio (>20%) was achieved by month 1 and maintained throughout the study. RBC AA‐ratios were 0.11 and 0.18 at 6 months for subjects 1 and 2; respectively. No treatment‐related adverse events occurred. Limited slowing of disease progression and some return of lost developmental milestones were seen. Conclusions Oral RT001 was administered safely in two subjects with INAD. Early findings suggest that the compound was well tolerated, metabolized and incorporated in the RBC membrane. A clinical trial is underway to assess efficacy. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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