Evidence map›Paper›PMID 42494992›Full record

ReviewNeuroscience applied2026

Outcome strategies for clinical trials in Neuropaediatric rare diseases.

Maria Teresa Acosta, José Ángel Aibar, Celso Arango, Estibaliz Arce Cirauqui, Cristina Baeza, Elizabeth Berry-Kravis, Kim I Bishop, Joan Busner, Chere Chapman, Boris Chaumette and 24 more

Abstract readReview
In one paragraph

Review in Neuroscience applied, 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

34 authors.

Maria Teresa AcostaNHGRI, Undiagnosed Disease Programme, National Human Genome Research Institute, NIH, Bethesda, USA.
José Ángel AibarDravet Syndrome Foundation Spain, Madrid, Spain.
Celso ArangoDepartment of Child and Adolescent Psychiatry, Hospital Universitario La Paz, IdiPaz, School of Medicine, Universidad Autónoma de Madrid, CIBERSAM, Madrid, Spain.
Estibaliz Arce CirauquiEngrail Therapeutics Inc, San Diego, CA, USA.
Cristina BaezaCBA Educational Training and Health Consulting, Barcelona, Spain.
Elizabeth Berry-KravisDepartments of Pediatrics, Neurological Sciences, Anatomy and Cell Biology, Rush Medical Centre, Chicago, IL, USA.
Kim I BishopGlobal Pharma Consultancy, Muncy, PA, USA.
Joan BusnerSignant Health, Blue Bell, PA, USA.
Chere ChapmanArdea Outcomes, Halifax, Nova Scotia, Canada.
Boris ChaumetteInstitute of Psychiatry and Neuroscience of Paris (INSERM U1266), Institut Pasteur (CNRS UMR3571), GHU-Paris Psychiatrie et Neurosciences, Paris, France.
Inés Del CerroCatholic University of Murcia (UCAM), Murcia, Spain.
John Carlos DiazGeosera Ltd, Berwyn, IL, USA.
Georg DorffnerThe Siesta Group, Vienna, Austria.
Chris J EdgarArdea Outcomes, Halifax, Nova Scotia, Canada.
Simona GiorgiDravet Syndrome Foundation Spain, Madrid, Spain.
Sabine M HölterHelmholtz Center Munich, German Research Centre for Environmental Health, Munich, Germany.
Sarah Kittel-SchneiderDepartment of Psychiatry and Neurobehavioural Science, University College Cork, Cork, Ireland.
Robert D LatzmanOtsuka Pharmaceutical Development & Commercialization Inc, Princeton, NJ, USA.
Carmen MorenoDepartment of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Maranon, School of Medicine, Universidad Complutense, IiSGM, CIBERSAM, ISCIII, Madrid, Spain.
Stefano PallantiAlbert Einstein College of Medicine, USA.
Carlotta ColziIstituto di Neuroscienze, Firenze, Italy.
Carme PlasenciaApplied Research using Omic Sciences S.L. (Aromics), Barcelona, Spain.
Franziska RadtkeDepartment of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital of Würzburg, University of Würzburg, Würzburg, Germany.
Kenneth RockwoodArdea Outcomes, Halifax, Nova Scotia, Canada.
Antonella Santuccione ChadhaWomen's Brain Foundation, Basel, Switzerland.
Gunes SevincArdea Outcomes, Halifax, Nova Scotia, Canada.
Manpreet K SinghDepartment of Psychiatry and Behavioural Sciences, University of California, Sacramento, CA, USA.
Suzanne H SmithOrigins, part of the Resonant Group, London, UK.
P K TandonUltragenyx Pharmaceutical Inc., Novato, CA, USA.
Daniella TinocoIndependent Consultant, Barcelona, Spain.
Eleonora BroggiDepartment of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, UK.
Sara Fontecha MorganCentre for Global Health, Trinity College Dublin, Ireland.
Igor MagaraggiaIgor Magaraggia Medical Writing and Consulting, Verbania, Italy.
Silvia Zaragoza DomingoNeuropsychological Research Organization S.L. (Neuropsynchro), Barcelona, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neuropaediatric Rare Diseases (NRDs) impose a profound and multidimensional burden on patients, families, and healthcare systems. Persistently low clinical trial success rates reflect an unmet methodological need as much as a therapeutic one. A fundamental bottleneck is the absence of fit-for-purpose clinical outcome assessments. In fact, instruments validated for non-rare or adult populations fail to capture clinically meaningful change in heterogeneous, small, and developmentally complex NRD populations. Building directly on a systematic catalogue of methodological challenges in NRD outcome research published by our group (Acosta et al., 2025), this paper presents a structured set of actionable outcome strategies proposed by a large multidisciplinary expert group convened under the auspices of the European College of Neuropsychopharmacology (ECNP) and the International Society for CNS Clinical Trials and Methodology (ISCTM). Using a structured, iterative expert-opinion approach, each identified challenge served as a prompt for developing one or more candidate strategies, each mapped one-to-one to its corresponding barrier. Strategies are presented across four thematic domains: (1) innovative methodologies to enhance ecological validity and reduce rater context effects; (2) novel or adapted outcomes and endpoints that preserve clinical meaningfulness under conditions of high heterogeneity and limited sample sizes; (3) the purposeful use of natural history resources; and (4) approaches to support comparability and synthesis across programmes. Additional considerations address caregiver expectancy bias and recruitment, stakeholder alignment, maturational confounding, and preclinical-clinical connectivity. Collectively, these strategies constitute a practical, challenge-mapped "living" toolbox for clinical scientists designing NRD trials. Each strategy is already in use or validated in analogous rare-disease contexts. Realising their potential at scale requires institutional programmes, pre-competitive co-validation platforms, systematic stakeholder co-design, and early engagement with regulatory agencies as scientific partners in endpoint development.

Indexed as

Clinical outcome assessmentsClinical trialsDigital health technologiesNatural history dataNeuropaediatric rare diseasesOutcome measures

Identifiers

PMID42494992
PMCPMC13393641

What Socratic 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 Socratic graph.