Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN
Joint Authors
Christou, Yiolanda
Kkolou, Elena
Ormiston, Annita
Konstantopoulos, Kostas
Beconi, Maria
Marshall, Randall D.
Plotkin, Horacio
Kleopa, Kleopas A.
Tanteles, George A.
Source
Case Reports in Neurological Medicine
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-04-16
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Objective.
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder with variable onset, rate of progression, and phenotypic expression.
Later-onset, more slowly progressive PKAN often presents with neuropsychiatric as well as motor manifestations that include speech difficulties, progressive dystonia, rigidity, and parkinsonism.
PKAN is caused by biallelic PANK2 mutations, a gene that encodes pantothenate kinase 2, a regulatory enzyme in coenzyme A biosynthesis.
Current therapeutic strategies rely on symptomatic relief.
We describe the treatment of the first, later-onset PKAN patient with oral fosmetpantotenate (previously known as RE-024), a novel replacement therapy developed to bypass the enzymatic defect.
Methods.
This was an open-label, uncontrolled, 12-month treatment with fosmetpantotenate of a single patient with a later-onset, moderately severe, and slowly progressive form of PKAN.
Results.
The patient showed improvement in all clinical parameters including the Unified Parkinson’s Disease Rating Scale (UPDRS), Barry-Albright Dystonia Scale, the EuroQol five-dimensional three-level (EQ-5D-3L) scale, timed 25-foot walk test, and electroglottographic speech analysis.
Fosmetpantotenate was well-tolerated with only transient liver enzyme elevation which normalized after dose reduction and did not recur after subsequent dose increases.
Conclusions.
Fosmetpantotenate showed promising results in a single PKAN patient and should be further studied in controlled trials.
American Psychological Association (APA)
Christou, Yiolanda& Tanteles, George A.& Kkolou, Elena& Ormiston, Annita& Konstantopoulos, Kostas& Beconi, Maria…[et al.]. 2017. Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN. Case Reports in Neurological Medicine،Vol. 2017, no. 2017, pp.1-6.
https://search.emarefa.net/detail/BIM-1147121
Modern Language Association (MLA)
Christou, Yiolanda…[et al.]. Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN. Case Reports in Neurological Medicine No. 2017 (2017), pp.1-6.
https://search.emarefa.net/detail/BIM-1147121
American Medical Association (AMA)
Christou, Yiolanda& Tanteles, George A.& Kkolou, Elena& Ormiston, Annita& Konstantopoulos, Kostas& Beconi, Maria…[et al.]. Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN. Case Reports in Neurological Medicine. 2017. Vol. 2017, no. 2017, pp.1-6.
https://search.emarefa.net/detail/BIM-1147121
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1147121