Evidence map›Paper›PMID 41131592›Full record

ReviewMolecular neurodegeneration2025

Entering the era of precision medicine to treat amyotrophic lateral sclerosis.

Frances Theunissen, Loren Flynn, Alfredo Iacoangeli, Ahmad Al Khleifat, Ammar Al-Chalabi, James J Giordano, Masha Strømme, P Anthony Akkari

Abstract readReview
In one paragraph

Review in Molecular neurodegeneration, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. 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

8 authors.

Frances TheunissenSchool of Health Science, The University of Notre Dame Australia, Fremantle, WA, Australia.
Loren FlynnPersonalised Medicine Centre, Murdoch University, Murdoch, WA, Australia.
Alfredo IacoangeliDepartment of Biostatistics and Health Informatics, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Ahmad Al KhleifatPerron Institute for Neurological and Translational Science, Nedlands, WA, Australia.
Ammar Al-ChalabiPerron Institute for Neurological and Translational Science, Nedlands, WA, Australia.
James J GiordanoDepartment of Neurology, Georgetown University Medical Centre, Washington, DC, USA.
Masha Strømme *Black Swan Biotech, Perth, WA, Australia.
P Anthony Akkari *Black Swan Biotech, Perth, WA, Australia. Anthony.akkari@perron.uwa.edu.au.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

With the disease modifying therapy Qalsody (tofersen) which targets the RNA product of the SOD1 gene, having been shown effective in amyotrophic lateral sclerosis (ALS), the present perspective seeks to explore progress towards the implementation of precision medicine principles in ALS drug development. We address the advances in our understanding of the complex genetic architecture of ALS, including the varying models of genetic contribution to disease, and the importance of understanding population genetics and genetic testing when considering patient selection for clinical studies. Additionally, we discuss the advances in long-read whole-genome sequencing technology and how this method can improve streamlined genetic testing and our understanding of the genetic heterogeneity in ALS. We highlight the recent advances in omics-data for understanding ALS patient sub-groups and how this knowledge should be applied to pre-clinical drug development in a proposed patient profiling workflow, particularly for gene targeted therapies. Finally, we summarise key ethical considerations that are pertinent to equitable care for patients, as we enter the era of precision medicine to treat ALS.

Indexed as

Amyotrophic Lateral SclerosisPrecision MedicineHumansAntisense oligonucleotideGeneticsLong-read sequencingPatient profilingPersonalised medicineUnderstanding heterogeneity

Identifiers

PMID41131592
PMCPMC12548220

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.