Treatment of mitochondrial disorders

Sreenivas Avula, Sumit Parikh, Scott Demarest, Jonathan Kurz, Andrea Gropman

Research output: Contribution to journalReview article

35 Citations (Scopus)

Abstract

While numerous treatments for mitochondrial disorders have been suggested, relatively few have undergone controlled clinical trials. Treatment of these disorders is challenging, as only symptomatic therapy is available. In this review we will focus on newer drugs and treatment trials in mitochondrial diseases, with a special focus on medications to avoid in treating epilepsy and ICU patient with mitochondrial disease, which has not been included in such a review. Readers are also referred to the opinion statement in A Modern Approach to the Treatment of Mitochondrial Disease published in Current Treatment Options in Neurology 2009. Many of the supplements used for treatment were reviewed in the previous abstract, and dosing guidelines were provided. The focus of this review is on items not previously covered in depth, and our discussion includes more recently studied compounds as well as any relevant updates on older compounds. We review a variety of vitamins and xenobiotics, including dichloroacetate (DCA), arginine, coenzyme Q10, idebenone, EPI-743, and exercise training. Treatment of epilepsy, which is a common feature in many mitochondrial phenotypes, warrants special consideration due to the added toxicity of certain medications, and we provide a discussion of these unique treatment challenges. Interesting, however, with only a few exceptions, the treatment strategies for epilepsy in mitochondrial cytopathies are the same as for epilepsy without mitochondrial dysfunction. We also discuss intensive care management, building upon similar reviews, adding new dimensions, and demonstrating the complexity of overall care of these patients.

Original languageEnglish (US)
Article number292
JournalCurrent Treatment Options in Neurology
Volume16
Issue number6
DOIs
StatePublished - Jan 1 2014

Fingerprint

Mitochondrial Diseases
Epilepsy
Therapeutics
coenzyme Q10
Controlled Clinical Trials
Xenobiotics
Critical Care
Neurology
Vitamins
Arginine
Patient Care
Guidelines
Exercise
Phenotype

Keywords

  • Arginine
  • Bezafibrate
  • Carnitine
  • Coenzyme Q10
  • Creatine
  • Cysteine
  • Dichloroacetate (DCA)
  • Dimethylglycine (DMG)
  • EPI-743
  • Energy metabolism
  • Gene therapy
  • Idebenone
  • Lipoic acid
  • Mitochondria
  • Mitochondrial disorders
  • N-acetyl cysteine (NAC)
  • POLG1
  • Resveratrol
  • Riboflavin
  • Thiamine
  • Treatment

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Avula, Sreenivas ; Parikh, Sumit ; Demarest, Scott ; Kurz, Jonathan ; Gropman, Andrea. / Treatment of mitochondrial disorders. In: Current Treatment Options in Neurology. 2014 ; Vol. 16, No. 6.
@article{4caece94909f462f90f9a77e0b974dc3,
title = "Treatment of mitochondrial disorders",
abstract = "While numerous treatments for mitochondrial disorders have been suggested, relatively few have undergone controlled clinical trials. Treatment of these disorders is challenging, as only symptomatic therapy is available. In this review we will focus on newer drugs and treatment trials in mitochondrial diseases, with a special focus on medications to avoid in treating epilepsy and ICU patient with mitochondrial disease, which has not been included in such a review. Readers are also referred to the opinion statement in A Modern Approach to the Treatment of Mitochondrial Disease published in Current Treatment Options in Neurology 2009. Many of the supplements used for treatment were reviewed in the previous abstract, and dosing guidelines were provided. The focus of this review is on items not previously covered in depth, and our discussion includes more recently studied compounds as well as any relevant updates on older compounds. We review a variety of vitamins and xenobiotics, including dichloroacetate (DCA), arginine, coenzyme Q10, idebenone, EPI-743, and exercise training. Treatment of epilepsy, which is a common feature in many mitochondrial phenotypes, warrants special consideration due to the added toxicity of certain medications, and we provide a discussion of these unique treatment challenges. Interesting, however, with only a few exceptions, the treatment strategies for epilepsy in mitochondrial cytopathies are the same as for epilepsy without mitochondrial dysfunction. We also discuss intensive care management, building upon similar reviews, adding new dimensions, and demonstrating the complexity of overall care of these patients.",
keywords = "Arginine, Bezafibrate, Carnitine, Coenzyme Q10, Creatine, Cysteine, Dichloroacetate (DCA), Dimethylglycine (DMG), EPI-743, Energy metabolism, Gene therapy, Idebenone, Lipoic acid, Mitochondria, Mitochondrial disorders, N-acetyl cysteine (NAC), POLG1, Resveratrol, Riboflavin, Thiamine, Treatment",
author = "Sreenivas Avula and Sumit Parikh and Scott Demarest and Jonathan Kurz and Andrea Gropman",
year = "2014",
month = "1",
day = "1",
doi = "10.1007/s11940-014-0292-7",
language = "English (US)",
volume = "16",
journal = "Current Treatment Options in Neurology",
issn = "1092-8480",
publisher = "Current Science, Inc.",
number = "6",

}

Treatment of mitochondrial disorders. / Avula, Sreenivas; Parikh, Sumit; Demarest, Scott; Kurz, Jonathan; Gropman, Andrea.

In: Current Treatment Options in Neurology, Vol. 16, No. 6, 292, 01.01.2014.

Research output: Contribution to journalReview article

TY - JOUR

T1 - Treatment of mitochondrial disorders

AU - Avula, Sreenivas

AU - Parikh, Sumit

AU - Demarest, Scott

AU - Kurz, Jonathan

AU - Gropman, Andrea

PY - 2014/1/1

Y1 - 2014/1/1

N2 - While numerous treatments for mitochondrial disorders have been suggested, relatively few have undergone controlled clinical trials. Treatment of these disorders is challenging, as only symptomatic therapy is available. In this review we will focus on newer drugs and treatment trials in mitochondrial diseases, with a special focus on medications to avoid in treating epilepsy and ICU patient with mitochondrial disease, which has not been included in such a review. Readers are also referred to the opinion statement in A Modern Approach to the Treatment of Mitochondrial Disease published in Current Treatment Options in Neurology 2009. Many of the supplements used for treatment were reviewed in the previous abstract, and dosing guidelines were provided. The focus of this review is on items not previously covered in depth, and our discussion includes more recently studied compounds as well as any relevant updates on older compounds. We review a variety of vitamins and xenobiotics, including dichloroacetate (DCA), arginine, coenzyme Q10, idebenone, EPI-743, and exercise training. Treatment of epilepsy, which is a common feature in many mitochondrial phenotypes, warrants special consideration due to the added toxicity of certain medications, and we provide a discussion of these unique treatment challenges. Interesting, however, with only a few exceptions, the treatment strategies for epilepsy in mitochondrial cytopathies are the same as for epilepsy without mitochondrial dysfunction. We also discuss intensive care management, building upon similar reviews, adding new dimensions, and demonstrating the complexity of overall care of these patients.

AB - While numerous treatments for mitochondrial disorders have been suggested, relatively few have undergone controlled clinical trials. Treatment of these disorders is challenging, as only symptomatic therapy is available. In this review we will focus on newer drugs and treatment trials in mitochondrial diseases, with a special focus on medications to avoid in treating epilepsy and ICU patient with mitochondrial disease, which has not been included in such a review. Readers are also referred to the opinion statement in A Modern Approach to the Treatment of Mitochondrial Disease published in Current Treatment Options in Neurology 2009. Many of the supplements used for treatment were reviewed in the previous abstract, and dosing guidelines were provided. The focus of this review is on items not previously covered in depth, and our discussion includes more recently studied compounds as well as any relevant updates on older compounds. We review a variety of vitamins and xenobiotics, including dichloroacetate (DCA), arginine, coenzyme Q10, idebenone, EPI-743, and exercise training. Treatment of epilepsy, which is a common feature in many mitochondrial phenotypes, warrants special consideration due to the added toxicity of certain medications, and we provide a discussion of these unique treatment challenges. Interesting, however, with only a few exceptions, the treatment strategies for epilepsy in mitochondrial cytopathies are the same as for epilepsy without mitochondrial dysfunction. We also discuss intensive care management, building upon similar reviews, adding new dimensions, and demonstrating the complexity of overall care of these patients.

KW - Arginine

KW - Bezafibrate

KW - Carnitine

KW - Coenzyme Q10

KW - Creatine

KW - Cysteine

KW - Dichloroacetate (DCA)

KW - Dimethylglycine (DMG)

KW - EPI-743

KW - Energy metabolism

KW - Gene therapy

KW - Idebenone

KW - Lipoic acid

KW - Mitochondria

KW - Mitochondrial disorders

KW - N-acetyl cysteine (NAC)

KW - POLG1

KW - Resveratrol

KW - Riboflavin

KW - Thiamine

KW - Treatment

UR - http://www.scopus.com/inward/record.url?scp=84897355860&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84897355860&partnerID=8YFLogxK

U2 - 10.1007/s11940-014-0292-7

DO - 10.1007/s11940-014-0292-7

M3 - Review article

C2 - 24700433

AN - SCOPUS:84897355860

VL - 16

JO - Current Treatment Options in Neurology

JF - Current Treatment Options in Neurology

SN - 1092-8480

IS - 6

M1 - 292

ER -