Evidence map›Paper›PMID 29460030›Full record

ReviewJournal of inherited metabolic disease2018

Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies.

Kara R Vogel, Garrett R Ainslie, Dana C Walters, Alice McConnell, Sameer C Dhamne, Alexander Rotenberg, Jean-Baptiste Roullet, K Michael Gibson

Open access · greenAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Journal of inherited metabolic disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
2.0field-weighted citation impact, top 13% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

24 citing papers in PubMed, 42 citations in OpenAlex.

  1. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 5 institutions in 1 country.

Kara R VogelDepartment of Neuroscience, University of Wisconsin, Madison, WI, USA.
Garrett R AinslieTheravance Biopharma Inc., South San Francisco, CA, USA.
Dana C WaltersDepartment of Pharmacotherapy, College of Pharmacy, Washington State University, 412 E. Spokane Falls Blvd, Health Sciences Building Room 210, Spokane, WA, 99204, USA.
Alice McConnellSperagen, Inc., Austin, TX, USA.
Sameer C DhamneDepartment of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Alexander RotenbergDepartment of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Jean-Baptiste RoulletDepartment of Pharmacotherapy, College of Pharmacy, Washington State University, 412 E. Spokane Falls Blvd, Health Sciences Building Room 210, Spokane, WA, 99204, USA.
K Michael GibsonDepartment of Pharmacotherapy, College of Pharmacy, Washington State University, 412 E. Spokane Falls Blvd, Health Sciences Building Room 210, Spokane, WA, 99204, USA. mike.gibson@wsu.edu.ORCID 0000-0003-4465-1318
Washington State University Spokane · USBoston Children's Hospital · USSystems & Processes Engineering Corporation (United States) · USTheravance Biopharma (United States) · USUniversity of Wisconsin System · US

Funding

Mouse Neurodevelopmental Behavior CoreU54HD090255 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI POMEROY, SCOTT LOREN · 2016 to 2020
$5.2M
Rapalog Therapy in Heritable and Vigabatrin-Induced GABA Metabolic DisordersR01EY027476 · NEI · WASHINGTON STATE UNIVERSITY · PI GIBSON, K MICHAEL · 2017 to 2020
$1.7M
Placebo-Controlled Phase II Trial of SGS742 (GABAB receptor antagonist) in Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency, a DisorderR01NS082286 · NINDS · WASHINGTON STATE UNIVERSITY · PI GIBSON, K MICHAEL · 2013 to 2016
$877k
Therapeutics of mTOR Signaling in Succinic Semialdehyde Dehydrogenase DeficiencyR21NS085369 · NINDS · WASHINGTON STATE UNIVERSITY · PI GIBSON, K MICHAEL · 2014 to 2015
$432k
Preclinical Evaluation of NCS-382 in Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD)R41NS098856 · NINDS · SPERAGEN, INC. · PI GIBSON, K MICHAEL, MCCONNELL, ALICE · 2016 to 2016
$225k
NEI NIH HHS R01 EY027476NICHD NIH HHS U54 HD090255NINDS NIH HHS R01 NS082286NINDS NIH HHS R21 NS085369NINDS NIH HHS R41 NS098856
6 · The paper itself

Abstract

We present an update to the status of research on succinic semialdehyde dehydrogenase (SSADH) deficiency (SSADHD), a rare disorder of GABA metabolism. This is an unusual disorder featuring the accumulation of both GABA and its neuromodulatory analog, gamma-hydroxybutyric acid (GHB), and recent studies have advanced the potential clinical application of NCS-382, a putative GHB receptor antagonist. Animal studies have provided proof-of-concept that enzyme replacement therapy could represent a long-term therapeutic option. The characterization of neuronal stem cells (NSCs) derived from aldehyde dehydrogenase 5a1

Indexed as

Enzyme Replacement TherapyAmino Acid Metabolism, Inborn ErrorsAnimalsBenzocycloheptenesDevelopmental DisabilitiesDisease Models, AnimalGABA AntagonistsHumansMiceMice, KnockoutSignal TransductionSuccinate-Semialdehyde DehydrogenaseTOR Serine-Threonine KinasesBenzocycloheptenesGABA AntagonistsNCS 382Succinate-Semialdehyde DehydrogenaseTOR Serine-Threonine KinasesEnzyme replacement therapyGABAGamma-hydroxybutyric aciduriamTORSuccinic semialdehyde dehydrogenase deficiencyTorin 2

Identifiers

PMID29460030
PMCPMC6041169
OpenAlexW2789464778

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.