Evidence map›Paper›PMID 42169148›Full record

ReviewOrphanet journal of rare diseases2026

Paying for precision: funding approaches for N-of-1 trials of individualized gene targeted therapies.

Nicole Nolen, Annemieke Aartsma-Rus, Christine Caneva, Curtis R Coughlin Ii, Margot A Cousin, Catherine Douthwright, Holm Graessner, Olivia Kim-McManus, Ashley Kuniholm, Stefanie Leonard and 7 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

17 authors.

Nicole NolenN=1 Collaborative, Somerville, MA, 02143, USA.
Annemieke Aartsma-RusDepartment of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Christine CanevaPrecision Medicine Institute, Children's Hospital Colorado, Aurora, CO, 80045, USA.
Curtis R Coughlin IiSection of Clinical Genetics and Metabolism, Department of Pediatrics, Center for Bioethics and Humanities, University of Colorado Anschutz Medical Campus, Anschutz Medical Campus, Aurora, CO, 80045, USA.
Margot A CousinDepartment of Molecular Medicine, Department of Neurology, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA.
Catherine DouthwrightDepartment of Neurology, University of Massachusetts Chan Medical School, Worcester, MA, 01605, USA.
Holm GraessnerInstitute for Medical Genetics and Applied Genomics, Centre for Rare Diseases, Tübingen University and University Hospital, 72070, Tübingen, Germany.
Olivia Kim-McManusDepartment of Neurosciences, Division of Pediatric Neurology, Rady Children's Institute for Genomic Medicine, UC San Diego, La Jolla, CA, 92037, USA.
Ashley KuniholmDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA.
Stefanie LeonardN=1 Collaborative, Somerville, MA, 02143, USA.
Andrea MartinsenPrecision Medicine Institute, Children's Hospital Colorado, Aurora, CO, 80045, USA.
Margaret MeserveDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA.
Matthis SynofzikDivision Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, Tübingen, Germany.
Booma YandavaDepartment of Management, Bentley University, Waltham, MA, 02452, USA.
Timothy W YuDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA.
Scott DemarestPrecision Medicine Institute, Children's Hospital Colorado, Aurora, CO, 80045, USA.
Roger J PaxtonPrecision Medicine Institute, Children's Hospital Colorado, Aurora, CO, 80045, USA. roger.paxton@childrenscolorado.org.ORCID http://orcid.org/0009-0003-5799-9492

Funding

Chan Zuckerberg Initiative DAF 2022-316467European Rare Disease Research Alliance 101156595
6 · The paper itself

Abstract

Individualized medicine has the potential to be a transformative approach to healthcare that tailors medical treatments to the unique makeup of each patient. This report explores the potential of individualized genetic medicines to meet the pressing need for effective treatments for individuals with rare genetic diseases, and funding models to support these treatments. Although recent successes have been achieved, significant administrative and financial challenges remain in implementing individualized treatment trials. This report investigates funding associated with such therapeutics. Funding challenges, key strategic operational factors, potential payor support, historic funding models, and ethical elements ultimately leading to financial support of patient treatment are considered. By addressing these questions, this report aims to provide an overview of the complex issues surrounding individualized medicine, offering insights into balancing its promises with practical and ethical considerations as the field and associated funding models continue to evolve.

Indexed as

Genetic TherapyPrecision MedicineRare DiseasesHumansFinanceFundingIndividualized medicinePersonalized healthcarePrecision medicineRare diseaseUltra-rare disease

Identifiers

PMID42169148
PMCPMC13474725

What OpenQuestion holds

Textmetadata
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.