PXD016757

PXD016757 is an original dataset announced via ProteomeXchange.

Title	Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy
Description	Promising results from recent clinical trials on the approved antisense oligonucleotide nusinersen in pediatric patients with 5q-linked spinal muscular atrophy (SMA) still have to be confirmed in adult patients but are hindered by a lack of sensitive biomarkers that indicate an early therapeutic response. Changes of the overall neurochemical composition of cerebrospinal fluid (CSF) under therapy may yield additive diagnostic and predictive information. With this prospective proof-of-concept and feasibility study, we evaluated non-targeted CSF proteomic profiles by mass spectrometry along with basic CSF parameters of 10 adult patients with SMA types 2 or 3 before and after 10 months of nusinersen therapy, in comparison with 10 age- and sex-matched controls. These data were analyzed by bioinformatics and correlated with clinical outcomes assessed by the Hammersmith Functional Rating Scale Expanded (HFMSE). CSF proteomic profiles of SMA patients differed from controls. Two groups of SMA patients were identified based on unsupervised clustering. These groups differed in age and expression of proteins related to neurodegeneration and neuroregeneration. Intraindividual CSF differences in response to nusinersen treatment varied between patients who clinically improved and those who did not. Data are available via ProteomeXchange with identifier PDX015117. Comparative CSF proteomic analysis in adult SMA patients before and after treatment with nusinersen identified subgroups and treatment-related changes and may therefore be suitable for diagnostic and predictive analyses.
HostingRepository	PRIDE
AnnounceDate	2020-01-07
AnnouncementXML	Submission_2020-02-17_02:20:20.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Tobias Kessker
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	No PTMs are included in the dataset
Instrument	Q Exactive

Revision	Datetime	Status	ChangeLog Entry
0	2019-12-16 00:12:17	ID requested
1	2020-01-07 09:17:26	announced
2	2020-01-17 06:31:06	announced	2020-01-17: Updated publication reference for PubMed record(s): 31903607.
⏵ 3	2020-02-17 02:20:21	announced	2020-01-17: Updated publication reference for PubMed record(s): 31903607. 2020-02-17: Updated publication reference for PubMed record(s): 31903607.

Kessler T, Latzer P, Schmid D, Warnken U, Saffari A, Ziegler A, Kollmer J, M, ö, hlenbruch M, Ulfert C, Herweh C, Wildemann B, Wick W, Weiler M, Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy. J Neurochem, 153(5):650-661(2020) [pubmed]

curator keyword: Biomedical

submitter keyword: antisense oligonucleotide (ASO), cerebrospinal fluid (CSF), mass spectrometry (MS), nusinersen, proteomics, spinal muscular atrophy (SMA)

Wolfgang Wick
contact affiliation	Clinical Cooperation Unit Neurooncology, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany
contact email	wolfgang.wick@med.uni-heidelberg.de
lab head
Tobias Kessker
contact affiliation	DKFZ Heidelberg
contact email	t.kessler@dkfz-heidelberg.de
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2020/01/PXD016757

PRIDE project URI

• PRIDE
  1. PXD016757
     1. Label: PRIDE project
     2. Name: Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy