Biomarkers for drug development in propionic and methylmalonic acidemias.

Amino Acid Metabolism, Inborn Errors / complications Biomarkers Drug Development Humans Methylmalonic Acid Propionic Acidemia / complications
biomarker clinical trials. methylmalonic acidemia pathophysiology propionic acidemia surrogate endpoint

Journal

Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918

Informations de publication

Date de publication:
03 2022
Historique:
revised: 10 01 2022
received: 13 10 2021
accepted: 12 01 2022
pubmed: 18 1 2022
medline: 10 5 2022
entrez: 17 1 2022
Statut: ppublish

Résumé

There is an unmet need for the development and validation of biomarkers and surrogate endpoints for clinical trials in propionic acidemia (PA) and methylmalonic acidemia (MMA). This review examines the pathophysiology and clinical consequences of PA and MMA that could form the basis for potential biomarkers and surrogate endpoints. Changes in primary metabolites such as methylcitric acid (MCA), MCA:citric acid ratio, oxidation of

Identifiants

DOI: 10.1002/jimd.12478 PMID: 35038174 PMC: PMC9303879
pubmed: 35038174
doi: 10.1002/jimd.12478
pmc: PMC9303879
doi:

Substances chimiques

Biomarkers 0
Methylmalonic Acid 8LL8S712J7

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

132-143

Subventions

Organisme : NIDDK NIH HHS
ID : R01 DK109907
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR002538
Pays : United States
Organisme : NIH HHS
ID : R01 DK.109907
Pays : United States

Informations de copyright

© 2022 BridgeBio. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.

Références

Expert Rev Mol Diagn. 2018 Feb;18(2):165-180
pubmed: 29338452
Clin Pharmacol Ther. 2001 Mar;69(3):89-95
pubmed: 11240971
J Inherit Metab Dis. 2014 Nov;37(6):899-907
pubmed: 24961826
Mitochondrion. 2015 Jan;20:34-42
pubmed: 25446397
Nat Rev Endocrinol. 2015 Oct;11(10):617-25
pubmed: 26303601
J Neurochem. 2016 Apr;137(1):62-75
pubmed: 26800654
Mol Genet Metab. 2013 Sep-Oct;110(1-2):116-21
pubmed: 23639448
Mol Cell Biochem. 2014 Jun;391(1-2):137-45
pubmed: 24532006
Pediatrics. 1961 Apr;27:522-38
pubmed: 13693094
J Inherit Metab Dis. 2021 May;44(3):566-592
pubmed: 33595124
Mol Genet Metab. 2006 Jun;88(2):123-30
pubmed: 16406646
Sci Rep. 2019 Aug 26;9(1):12366
pubmed: 31451751
Fed Regist. 2011 Aug 11;76(155):49773-4
pubmed: 21834216
Orphanet J Rare Dis. 2013 Jan 10;8:6
pubmed: 23305374
J Inherit Metab Dis. 2022 Mar;45(2):132-143
pubmed: 35038174
Clin Chim Acta. 1982 Aug 4;123(1-2):101-9
pubmed: 7116632
EPMA J. 2016 Dec 8;7:24
pubmed: 27980697
Mol Genet Metab. 2012 Jan;105(1):10-5
pubmed: 22078457
J Inherit Metab Dis. 2020 May;43(3):409-423
pubmed: 31622506
J Inherit Metab Dis. 2018 Nov;41(6):1179-1187
pubmed: 30159853
Genet Med. 2021 Aug;23(8):1534-1542
pubmed: 34007002
J Inherit Metab Dis. 2020 Nov;43(6):1173-1185
pubmed: 32681732
Eur J Pediatr. 1996 Mar;155(3):205-10
pubmed: 8929729
Biochim Biophys Acta Mol Basis Dis. 2019 Dec 1;1865(12):165538
pubmed: 31449969
J Inherit Metab Dis. 2012 Jan;35(1):65-70
pubmed: 21113738
Adv Ther. 2020 May;37(5):1866-1896
pubmed: 32270363
Nutrients. 2018 Jan 12;10(1):
pubmed: 29329201
J Pediatr. 1972 Nov;81(5):970-2
pubmed: 5086724
Mol Genet Metab. 2018 Jul;124(3):204-209
pubmed: 29789193
Orphanet J Rare Dis. 2013 Oct 12;8:160
pubmed: 24119230
J Med Screen. 2017 Jun;24(2):58-61
pubmed: 27216769
AJNR Am J Neuroradiol. 2015 Jan;36(1):194-201
pubmed: 25190203
J Inherit Metab Dis. 2018 May;41(3):309-328
pubmed: 29318410
J Chromatogr B Analyt Technol Biomed Life Sci. 2018 Apr 15;1083:57-62
pubmed: 29524693
J Chin Med Assoc. 2010 Jun;73(6):314-8
pubmed: 20603089
Pediatr Res. 1991 Jul;30(1):15-22
pubmed: 1909779
Pediatrics. 2002 Feb;109(2):E31
pubmed: 11826241
Clin Chim Acta. 2014 Feb 15;429:30-3
pubmed: 24269713
Clin Chim Acta. 2015 Oct 23;450:342-8
pubmed: 26368264
Genet Med. 2011 Mar;13(3):230-54
pubmed: 21325949
Genet Med. 2021 Aug;23(8):1522-1533
pubmed: 33820958
PLoS One. 2017 Sep 15;12(9):e0184897
pubmed: 28915261
J Pediatr. 2015 Jun;166(6):1455-61.e1
pubmed: 25771389
Orphanet J Rare Dis. 2021 Jan 20;16(1):37
pubmed: 33472655
Genet Med. 2019 Dec;21(12):2830-2835
pubmed: 31249402
Hum Genet. 1976 Dec 15;34(3):277-83
pubmed: 1002151
Pediatr Res. 1982 Jan;16(1):5-7
pubmed: 7070876
JCI Insight. 2018 Dec 6;3(23):
pubmed: 30518688
Eur J Pediatr. 1994;153(7 Suppl 1):S68-80
pubmed: 7957390
Clin Pediatr (Phila). 2004 Nov-Dec;43(9):837-43
pubmed: 15583780
Orphanet J Rare Dis. 2018 Dec 6;13(1):219
pubmed: 30522498
Mol Genet Metab. 2000 Apr;69(4):302-11
pubmed: 10870848
Genet Med. 2013 Dec;15(12):990-6
pubmed: 23639900
Lancet Neurol. 2011 Sep;10(9):806-18
pubmed: 21820356
Mol Genet Metab. 2014 Sep-Oct;113(1-2):14-26
pubmed: 25085281
Orphanet J Rare Dis. 2013 Sep 23;8:148
pubmed: 24059531
Mol Genet Metab. 2017 Sep;122(1-2):51-59
pubmed: 28712602
Orphanet J Rare Dis. 2020 Mar 6;15(1):68
pubmed: 32143654
J Inherit Metab Dis. 2012 Jan;35(1):29-40
pubmed: 21290185
Am J Clin Nutr. 2019 Jul 1;110(1):158-168
pubmed: 31127807
Clin Chem. 2007 Jul;53(7):1364-9
pubmed: 17510301
Pediatr Transplant. 2019 Jun;23(4):e13407
pubmed: 30973671
Yonsei Med J. 2010 Mar;51(2):151-63
pubmed: 20191004
Clin Sci. 1972 Jun;42(6):665-71
pubmed: 5033805

Auteurs

Nicola Longo (N)

Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.

Jörn Oliver Sass (JO)

Research Group Inborn Errors of Metabolism, Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany.

Agnieszka Jurecka (A)

CoA Therapeutics, Palo Alto, California, USA.

Jerry Vockley (J)

Division Medical Genetics, Department of Pediatrics, University of Pittsburgh, School of Medicine, Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.

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Classifications MeSH

questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Aminoacidopathies congénitales › Biomarkers for drug development in propionic...
questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Biomarkers for drug development in propionic...
questionsmedicales.fr › Techniques d'investigation › Développement de médicament › Biomarkers for drug development in propionic...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Biomarkers for drug development in propionic...
questionsmedicales.fr › Composés chimiques organiques › Acides carboxyliques › Acides acycliques › Diacides carboxyliques › Malonates › Acide méthyl-malonique › Biomarkers for drug development in propionic...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Aminoacidopathies congénitales › Acidémie propionique › Biomarkers for drug development in propionic...