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Persico et al. Rare Dis Orphan Drugs J 2023;2:13 Rare Disease and
DOI: 10.20517/rdodj.2023.08
Orphan Drugs Journal

Original Article Open Access

Coenzyme Q10, Vitamin E and Polyvitamin B: an
exploratory double-blind randomized cross-over

study in Phelan-McDermid Syndrome

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Antonio M. Persico 1 , Arianna Ricciardello , Francesca Cucinotta , Laura Turriziani , Giorgia Calabrese ,
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Pasquale Tomaiuolo , Tiziana Di Bella , Fabiana Bellomo , Maria Boncoddo , Giada Turturo , Silvestro
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Mirabelli , Lisa Asta , Federico Banchelli , Riccardo Cuoghi Costantini , Roberto D'Amico 4
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Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, & Child and Adolescent
Neuropsychiatry Program, Modena University Hospital, Modena I-41125, Italy.
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Interdepartmental Program "Autism 0-90", "G. Martino" University Hospital, Messina I-98124, Italy.
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IRCCS Centro Neurolesi "Bonino-Pulejo", Messina I-98124, Italy.
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Department of Medical and Surgical Sciences, University of Modena and Reggio Emilia, & Unit of Statistical and Methodological
Support to Clinical Research, Modena University Hospital, Modena I-41125, Italy.
Correspondence to: Prof. Antonio M. Persico, Child & Adolescent Neuropsychiatry, Department of Biomedical, Metabolic and
Neural Sciences, University of Modena and Reggio Emilia, via Giuseppe Campi 287, Modena I-41125, Italy. E-mail
antonio.persico@unimore.it
How to cite this article: Persico AM, Ricciardello A, Cucinotta F, Turriziani L, Calabrese G, Tomaiuolo P, Bella TD, Bellomo F,
Boncoddo M, Turturo G, Mirabelli S, Asta L, Banchelli F, Costantini RC, D'Amico R. Coenzyme Q10, Vitamin E and Polyvitamin B:
an exploratory double-blind randomized cross-over study in Phelan-McDermid Syndrome. Rare Dis Orphan Drugs J 2023;2:xx.
https://dx.doi.org/10.20517/rdodj.2023.08
Received: 5 Mar 2023 Revised: 24 Jun 2023 Accepted: 6 Jul 2023 Published: 14 Jul 2023
Academic Editor: Daniel Scherman Copy Editor: Yanbing Bai Production Editor: Yanbing Bai
Abstract
Aim: Defective mitochondrial function and increased oxidative stress have been documented in Autism Spectrum
Disorder (ASD) and Phelan-McDermid syndrome (PMS), one of the best-known monogenic forms of ASD. The
purpose of this exploratory, double-blind, randomized cross-over trial (RCT) is to verify the efficacy and safety of a
“metabolic support therapy” (MST) in PMS, while defining the experimental methodology most apt at maximizing
sensitivity and reliability.

Methods: A total of 31 PMS patients completed 4 months of Coenzyme Q10 (50/100 mg b.i.d.) + vitamin E
(30/60 mg/d) + polyvitamin B ("active compound") vs. 4 months of only Vitamins E and B ("active comparator").
To explore their sensitivity and reliability, four primary outcome measures were used: VABS, CARS, CGI-I, and
VAS. Secondary outcome measures span adaptive behaviors, social cognition, autism, problem behaviors, quality

© The Author(s) 2023. Open Access This article is licensed under a Creative Commons Attribution 4.0
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