Health AI Central
Share:
Peer-Reviewed Publication
Orphanet J Rare Dis2025;20(1):521.October 17, 2025Journal Article

Methodological challenges in outcomes research for early-trials for implementation of new therapies in neuropediatric rare diseases.

Maria T Acosta1, Silvia Zaragoza Domingo2, Celso Arango3, Kim I Bishop4, Joan Busner5, Georg Dorffner6, Inés Del Cerro7, John Carlos Diaz8, Edna Gruenblatt9, Sabine M Hölter10, Brian Harel11, Vanitha Krishna11, Marta Mas12, Carmen Moreno3, Stefano Pallanti13, Carme Plasencia14, Sarah Kittel-Schneider15, Daniella Tinoco16, Monica Vance17, Manpreet K Singh18, Simona Giorgi19, José Ángel Aibar20, Antonella Santuccione Chadha21, Estibaliz Arce Cirauqui22
1NHGRI: Undiagnosed Disease Program, National Human Genome Research Institute, NIH, Bethesda, USA.
2Neuropsychological Research Organization s.l (Neuropsynchro), Barcelona, Spain. szaragoza@psyncro.net.
3Hospital General Universitario Gregorio Marañón, Madrid, Spain.
4Global Pharma Consulting Ltd, Aylesbury, USA.
5Signant Health, Blue Bell, USA.
6The Siesta Group, Vienna, Austria.
7UCAM: Universidad Catolica San Antonio de Murcia, Murcia, Spain.
8Geosera Ltd, Berwyn, USA.
9University of Zurich, Zurich, Switzerland.
10Technical University of Munich, Munich, Germany.
11Takeda Pharmaceuticals America Inc, Cambridge, USA.
12, Barcelona, Spain.
13Instituto di Neuroscienze, Pisa, Italy.
14Aromics, Barcelona, Spain.
15Cork University Hospital, Cork, Ireland.
16Worldwide Clinical Trials, Barcelona, Spain.
17Santium, Toronto, Canada.
18University of California Davis, Davis, USA.
19Dravet Foundation, Madrid, Spain.
20Dravet Foundation, Nice, Paris, France.
21Women`s Brain Project, Zurich, Switzerland.
22Engrail Therapeutics, Inc., San Diego, USA.
PubMed PMC DOI PDF

Abstract

During 2023, the leads of the ECNP TWG focused on Clinical Outcomes in Early-Trials in Neurosciences scheduled two brainstorming sessions to allow a deep discussion about challenges facing neurosciences drug development in neuropediatric rare diseases. Sessions were led by Dr Maria T. Acosta from the Undiagnosed Disease Program (UDP) at the National Human Genome Research Institute, National Instit…

Create a free account to keep reading

Free members get 10 full research views every month across publications, clinical trials, FDA clearances, adverse events, and NIH grants. No credit card required.

Create Free AccountSign In

Want unlimited research access? See Pro plans

Data Accuracy Notice: Research intelligence on Health AI Central is aggregated from public sources (PubMed, ClinicalTrials.gov, FDA, NIH, CMS, and others) and refreshed nightly. Classifications and derived metrics are produced by automated methods described in our Methodology. We recommend verifying critical data points against the primary sources before making decisions.