Evidence map›Paper›PMID 42190654›Full record

ReviewAmerican journal of human genetics2026

Guidance on communication and informed consent with patients and their families for experimental individualized treatments.

Annemieke Aartsma-Rus, Claudio M de Gusmao, Scott Demarest, Matias Wagner, Georg Marckmann, Charlotte Kogel, Roseline Favresse, Rebecca Schuele, Matthis Synofzik, Holm Graessner and 2 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in American journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

12 authors.

Annemieke Aartsma-RusDepartment of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands. Electronic address: a.m.rus@lumc.nl.
Claudio M de GusmaoMovement Disorders Division and Neurogenetics Program, Mass General Brigham, Harvard Medical School, Boston, MA, USA.
Scott DemarestUniversity of Colorado, School of Medicine, Department of Pediatrics, Division of Neurology, Precision Medicine Institute, Children's Hospital Colorado, Aurora, CO, USA.
Matias WagnerInstitute of Human Genetics, School of Medicine and Health, Technical University of Munich, 81675 Munich, Germany; Institute of Neurogenomics, Helmholtz Munich, 85764 Neuherberg, Germany; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, 80337 Munich, Germany.
Georg MarckmannInstitute of Ethics, History and Theory of Medicine, LMU Munich, Munich, Germany.
Charlotte KogelInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Roseline FavresseEURORDIS, Rare Diseases Europe, Paris, France.
Rebecca SchueleDivision of Neurodegenerative Diseases and Movement Disorders, Department of Neurology, Heidelberg University Hospital and Faculty of Medicine, Heidelberg, Germany.
Matthis SynofzikDivision Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
Holm GraessnerInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
Lynn BushDivision of Genetics & Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Translational Neuroscience Center, Boston Children's Hospital, Pediatrics, Harvard Medical School, Harvard Medical School Center for Bioethics, Boston, MA 02115, USA.
Timothy W YuDivision of Genetics & Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

With advanced tools and techniques, it is now possible to genetically diagnose an increasing number of individuals with rare diseases for which no disease-modifying treatment exists. For a subset of affected individuals, it is possible to develop individualized interventions to modulate and/or correct the underlying genetic defect. Communicating to such individuals and their guardians about the potential risks and benefits of such experimental therapies poses special challenges. In addition to typical procedures used for consenting subjects of clinical trials or off-label therapy, individualized therapy protocols involve a complex interplay between biological plausibility, preclinical data, risks, uncertainties, and ethical considerations of equipoise, especially since individualized treatments are usually developed for serious conditions. While no formal guidance exists, this perspective was drafted from the shared experience of clinicians and developers involved in treating affected individuals with individualized antisense oligonucleotides (ASOs) to provide preliminary guidance on communication and consent. As additional experience and expertise accrue over time, we anticipate that these principles will evolve with subsequent modifications to this document.

Indexed as

CommunicationInformed ConsentPrecision MedicineHumansOligonucleotides, AntisenseOligonucleotides, Antisenseantisense oligonucleotidesbest practicesindividualized treatments

Identifiers

PMID42190654
PMCPMC13277676

What OpenQuestion holds

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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.