Evidence map›Paper›PMID 34386583›Full record

ArticleNeurology. Genetics2021

Amyotrophic Lateral Sclerosis Genetic Access Program: Paving the Way for Genetic Characterization of ALS in the Clinic.

Jennifer Roggenbuck, Kelly A Rich, Leah Vicini, Marilly Palettas, Joceyln Schroeder, Christina Zaleski, Tara Lincoln, Luke Drury, Jonathan D Glass

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.2field-weighted citation impact, top 18% 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

3 citing papers in PubMed, 11 citations in OpenAlex.

  1. ALS Identified: two-year findings from a sponsored ALS genetic testing program.Annals of clinical and translational neurology · 2024
    Article
  2. Evidence-based consensus guidelines for ALS genetic testing and counseling.Annals of clinical and translational neurology · 2023
    Article
  3. Article
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

9 authors at 1 institution in 1 country.

Jennifer RoggenbuckDepartment of Internal Medicine (J.R.) and Department of Neurology (J.R., K.A.R.), The Ohio State University Wexner Medical Center, Columbus; The Ohio State University Wexner Medical Center (L.V.), College of Medicine, Columbus; Department of Biomedical Informatics (M.P.), The Ohio State University, Center for Biostatistics, Columbus; PreventionGenetics, LLC (J.S., C.Z., T.L., L.D.), Marshfield, WI; The Northeast ALS Consortium (NEALS) (T.L.); and Emory ALS Center (J.D.G.), Emory University School of Medicine, Atlanta, GA.ORCID 0000-0002-6583-9996
Kelly A RichDepartment of Internal Medicine (J.R.) and Department of Neurology (J.R., K.A.R.), The Ohio State University Wexner Medical Center, Columbus; The Ohio State University Wexner Medical Center (L.V.), College of Medicine, Columbus; Department of Biomedical Informatics (M.P.), The Ohio State University, Center for Biostatistics, Columbus; PreventionGenetics, LLC (J.S., C.Z., T.L., L.D.), Marshfield, WI; The Northeast ALS Consortium (NEALS) (T.L.); and Emory ALS Center (J.D.G.), Emory University School of Medicine, Atlanta, GA.
Leah ViciniDepartment of Internal Medicine (J.R.) and Department of Neurology (J.R., K.A.R.), The Ohio State University Wexner Medical Center, Columbus; The Ohio State University Wexner Medical Center (L.V.), College of Medicine, Columbus; Department of Biomedical Informatics (M.P.), The Ohio State University, Center for Biostatistics, Columbus; PreventionGenetics, LLC (J.S., C.Z., T.L., L.D.), Marshfield, WI; The Northeast ALS Consortium (NEALS) (T.L.); and Emory ALS Center (J.D.G.), Emory University School of Medicine, Atlanta, GA.
Marilly PalettasDepartment of Internal Medicine (J.R.) and Department of Neurology (J.R., K.A.R.), The Ohio State University Wexner Medical Center, Columbus; The Ohio State University Wexner Medical Center (L.V.), College of Medicine, Columbus; Department of Biomedical Informatics (M.P.), The Ohio State University, Center for Biostatistics, Columbus; PreventionGenetics, LLC (J.S., C.Z., T.L., L.D.), Marshfield, WI; The Northeast ALS Consortium (NEALS) (T.L.); and Emory ALS Center (J.D.G.), Emory University School of Medicine, Atlanta, GA.
Joceyln SchroederDepartment of Internal Medicine (J.R.) and Department of Neurology (J.R., K.A.R.), The Ohio State University Wexner Medical Center, Columbus; The Ohio State University Wexner Medical Center (L.V.), College of Medicine, Columbus; Department of Biomedical Informatics (M.P.), The Ohio State University, Center for Biostatistics, Columbus; PreventionGenetics, LLC (J.S., C.Z., T.L., L.D.), Marshfield, WI; The Northeast ALS Consortium (NEALS) (T.L.); and Emory ALS Center (J.D.G.), Emory University School of Medicine, Atlanta, GA.
Christina ZaleskiDepartment of Internal Medicine (J.R.) and Department of Neurology (J.R., K.A.R.), The Ohio State University Wexner Medical Center, Columbus; The Ohio State University Wexner Medical Center (L.V.), College of Medicine, Columbus; Department of Biomedical Informatics (M.P.), The Ohio State University, Center for Biostatistics, Columbus; PreventionGenetics, LLC (J.S., C.Z., T.L., L.D.), Marshfield, WI; The Northeast ALS Consortium (NEALS) (T.L.); and Emory ALS Center (J.D.G.), Emory University School of Medicine, Atlanta, GA.
Tara LincolnDepartment of Internal Medicine (J.R.) and Department of Neurology (J.R., K.A.R.), The Ohio State University Wexner Medical Center, Columbus; The Ohio State University Wexner Medical Center (L.V.), College of Medicine, Columbus; Department of Biomedical Informatics (M.P.), The Ohio State University, Center for Biostatistics, Columbus; PreventionGenetics, LLC (J.S., C.Z., T.L., L.D.), Marshfield, WI; The Northeast ALS Consortium (NEALS) (T.L.); and Emory ALS Center (J.D.G.), Emory University School of Medicine, Atlanta, GA.
Luke DruryDepartment of Internal Medicine (J.R.) and Department of Neurology (J.R., K.A.R.), The Ohio State University Wexner Medical Center, Columbus; The Ohio State University Wexner Medical Center (L.V.), College of Medicine, Columbus; Department of Biomedical Informatics (M.P.), The Ohio State University, Center for Biostatistics, Columbus; PreventionGenetics, LLC (J.S., C.Z., T.L., L.D.), Marshfield, WI; The Northeast ALS Consortium (NEALS) (T.L.); and Emory ALS Center (J.D.G.), Emory University School of Medicine, Atlanta, GA.
Jonathan D GlassDepartment of Internal Medicine (J.R.) and Department of Neurology (J.R., K.A.R.), The Ohio State University Wexner Medical Center, Columbus; The Ohio State University Wexner Medical Center (L.V.), College of Medicine, Columbus; Department of Biomedical Informatics (M.P.), The Ohio State University, Center for Biostatistics, Columbus; PreventionGenetics, LLC (J.S., C.Z., T.L., L.D.), Marshfield, WI; The Northeast ALS Consortium (NEALS) (T.L.); and Emory ALS Center (J.D.G.), Emory University School of Medicine, Atlanta, GA.
Emory University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo report the frequency of amyotrophic lateral sclerosis (ALS) genetic variants in a nationwide cohort of clinic-based patients with ALS with a family history of ALS (fALS), dementia (dALS), or both ALS and dementia (fALS/dALS).

methodsA multicenter, prospective cohort of 573 patients with fALS, dALS, or fALS/dALS, underwent genetic testing in the ALS Genetic Access Program (ALS GAP), a clinical program for clinics of the Northeast ALS Consortium. Patients with dALS underwent

resultsA pathogenic (P) or likely pathogenic (LP) variant was identified in 171/573 (30%) of program participants. About half of patients with fALS or fALS/dALS (138/301, 45.8%) had either a

conclusionsThe ALS GAP program provided a genetic diagnosis to ∼1 in 3 participants and may serve as a model for clinical genetic testing in ALS.

Identifiers

PMID34386583
PMCPMC8356701
OpenAlexW3193048169

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.