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Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases

Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases

Many rare diseases of genetic origin affect neurodevelopment, causing severe motor problems that are difficult to treat. Our team uses a multidisciplinary approach to develop personalized treatments based on precision medicine with these objectives:

  • Early and precision diagnosis by applying technological advances in genetics and imaging of the nervous system.
  • Clinical and preclinical development of advanced therapies and facilitation of access to those already available.
  • Deep brain stimulation program for symptomatic treatment of refractory movement disorders.
  • Technological innovation and digital transformation of rare diseases.

Our team promotes clinical and translational research in hospital care programs, such as units specialized in Dystonia and other Movement Disorders, Ataxias and Paraparesis, the Fetal Medicine Unit for Prenatal Diagnosis of Neurological Diseases and the Gene Therapy group for Neuromuscular pathology. Our researchers lead projects in the ERN-RND.

Projects

Neurologia infantil

IP: Alfons Macaya Ruíz
Collaborators: Laia Ventura i Expósito, Belen Perez Dueñas, Laura Costa Comellas, Neurologia infantil, Francina Munell Casadesus, Anna Marcé Grau, Miquel Raspall Chaure, Mireia del Toro Riera, Julia Sala Coromina, Ana Felipe Rucián, Ana Laura Cazurro Gutierrez, David Gómez Andrés, Amaia Lasa Aranzasti, Lucy Dougherty de Miguel
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 0.01
Reference: 2021 SGR 01171
Duration: 01/01/2022 - 30/06/2025

Distrofia muscular congénita tipo 1A: inhibición de la fibrosis y corrección mediante edición génica

IP: Jordi Barquinero Mañez
Collaborators: Laura Costa Comellas, Francina Munell Casadesus, David Gómez Andrés, Rocío Piñera Moreno, Maria Pallares Masmitja
Funding agency: Instituto de Salud Carlos III
Funding: 117370
Reference: PI22/01027
Duration: 01/01/2023 - 31/12/2025

Análisis genético y molecular de la distonía mioclónica

IP: Belen Perez Dueñas
Collaborators: Ana Laura Cazurro Gutierrez, Judit Álvarez González
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 67425.41
Reference: AGAUR/BEQUESFIPREDOC/2022/CAZURRO
Duration: 01/04/2022 - 31/03/2025

Trastornos del movimiento en la edad pediátrica

IP: Belen Perez Dueñas
Collaborators: Maria Victoria Gonzalez Martinez, Trastornos del movimiento en la edad pediátrica, Anna Marcé Grau, Ana Laura Cazurro Gutierrez, Amaia Lasa Aranzasti
Funding agency: Instituto de Salud Carlos III
Funding: 125840
Reference: PI21/00248
Duration: 01/01/2022 - 30/06/2026

Publications

Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey.

PMID: 37653408
Journal: Orphanet Journal of Rare Diseases
Year: 2023
Reference: Orphanet J Rare Dis. 2023 Aug 31;18(1):257. doi: 10.1186/s13023-023-02869-1.
Impact factor:
Publication type: Paper in international publication
Authors: Chroscinska-Krawczyk, Magdalena; Chroscinska-Krawczyk, Magdalena; Cwyl, Maciej; Escolar, Maria Luisa; Jurecka, Agnieszka; Klopstock, Thomas; Klucken, Angelika; Lopez, Antonio; Lopez, Antonio; Mercimek-Andrews, Saadet et al.
DOI: 10.1186/s13023-023-02869-1

Gastrointestinal pirfenidone adverse events in idiopathic pulmonary fibrosis depending on diet: the MADIET clinical trial.

PMID: 37857429
Journal: EUROPEAN RESPIRATORY JOURNAL
Year: 2023
Reference: Eur Respir J. 2023 Oct 19;62(4):2300262. doi: 10.1183/13993003.00262-2023. Print 2023 Oct.
Impact factor:
Publication type: Other (letters to the editor, abstracts, corrigendum, etc.)
Authors: Adam, Margaret P; Antoniou, Katerina; Aviles, Victoria; Bachs, Anna; Bermudo, Guadalupe; Blau, Hannah; Bonella, Francesco; Carmody, Leigh C; Chan, Lauren E; Gargano, Michael A et al.
DOI: 10.1183/13993003.00262-2023

2024 Recommendations for Validation of Noninvasive Arterial Pulse Wave Velocity Measurement Devices.

PMID: 37975229
Journal: HYPERTENSION
Year: 2023
Reference: Hypertension. 2023 Nov 17. doi: 10.1161/HYPERTENSIONAHA.123.21618.
Impact factor:
Publication type: Paper in international publication
Authors: Adam, Margaret P; Avolio, Alberto P; Barbosa, Eduardo C D; Baulmann, Johannes; Bianchini, Elisabetta; Blau, Hannah; Boutouyrie, Pierre; Bruno, Rosa Maria; Carmody, Leigh C; Chan, Lauren E et al.
DOI: 10.1161/HYPERTENSIONAHA.123.21618

Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency.

PMID: 36064416
Journal: Orphanet Journal of Rare Diseases
Year: 2022
Reference: Orphanet J Rare Dis. 2022 Sep 5;17(1):340. doi: 10.1186/s13023-022-02468-6.
Impact factor:
Publication type: Paper in international publication
Authors: Baide-Mairena, Heydi; Flores-Rojas, Katherine; Gil, Angel; Gil-Campos, Mercedes; Lopez-Laso, Eduardo; Marti-Sanchez, Laura; Pata, Silvia; Perez-Duenas, Belen et al.
DOI: 10.1186/s13023-022-02468-6

The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.

PMID: 36054588
Journal: MOVEMENT DISORDERS
Year: 2022
Reference: Mov Disord. 2022 Nov;37(11):2197-2209. doi: 10.1002/mds.29182. Epub 2022 Aug 25.
Impact factor:
Publication type: Paper in international publication
Authors: Barwick, Katy; Cobben, Jan; Dale, Russell C; Danti, Federica R; De Grandis, Elisa; Gorman, Kathleen; Guerrini, Renzo; Kurian, Manju A; Leuzzi, Vincenzo; Macaya, Alfons et al.
DOI: 10.1002/mds.29182

Gait analysis under the lens of statistical physics.

PMID: 35782747
Journal: Computational and Structural Biotechnology Journal
Year: 2022
Reference: Comput Struct Biotechnol J. 2022 Jun 18;20:3257-3267. doi: 10.1016/j.csbj.2022.06.022. eCollection 2022.
Impact factor:
Publication type: Review in international publication
Authors: Gomez-Andres, David; Olivares, Felipe; Pulido-Valdeolivas, Irene; Rausell, Estrella; Zanin, Massimiliano et al.
DOI: 10.1016/j.csbj.2022.06.022

Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3.

PMID: 35766882
Journal: HUMAN MOLECULAR GENETICS
Year: 2022
Reference: Hum Mol Genet. 2022 Nov 10;31(22):3897-3913. doi: 10.1093/hmg/ddac146.
Impact factor:
Publication type: Paper in international publication
Authors: AIguilera-Albesa, Sergio; Espinos, Carmen; Fazzari, Pietro; Gorria-Redondo, Nerea; Hernandez, Alberto; Jenkins, Alison; Marco-Marin, Clara; Martinez-Rubio, Dolores; Miquel-Leal, Javier; Navarro-Gonzalez, Carmen et al.
DOI: 10.1093/hmg/ddac146

Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.

PMID: 33200489
Journal: MOVEMENT DISORDERS
Year: 2021
Reference: Mov Disord. 2021 Jun;36(6):1342-1352. doi: 10.1002/mds.28392. Epub 2020 Nov 16.
Impact factor:
Publication type: Paper in international publication
Authors: Bischoff, Almut Turid; Bonnet, Cecilia; Burns, Colleen; Cif, Laura; Comella, Cynthia; Correa-Vela, Marta; Escolar, Maria L; Fraser, Jamie L; Gonzalez, Victoria; Greblikas, Feriandas et al.
DOI: 10.1002/mds.28392

Dystonia Management: What to Expect From the Future? The Perspectives of Patients and Clinicians Within DystoniaNet Europe.

PMID: 34149592
Journal: Frontiers in Neurology
Year: 2021
Reference: Front Neurol. 2021 Jun 3;12:646841. doi: 10.3389/fneur.2021.646841. eCollection 2021.
Impact factor:
Publication type: Review in international publication
Authors: Albanese, Alberto; Benson, Monika; Contarino, Maria Fiorella; Edwards, Mark J; Graessner, Holm; Hutchinson, Michael; Jech, Robert; Krauss, Joachim K; Morgante, Francesca; Perez Duenas, Belen et al.
DOI: 10.3389/fneur.2021.646841

Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients.

PMID: 34087982
Journal: Stem Cell Research
Year: 2021
Reference: Stem Cell Res. 2021 May;53:102338. doi: 10.1016/j.scr.2021.102338. Epub 2021 Apr 15.
Impact factor:
Publication type: Paper in international publication
Authors: Correa-Vela, Marta; Darling, Alejandra; Erceg, Slaven; Espinos, Carmen; Garcia-Navas, Deyanira; Machuca, Candela; Perez-Duenas, Belen; Sanchez-Alcazar, Jose Antonio; Villalon-Garcia, Irene et al.
DOI: 10.1016/j.scr.2021.102338

epsilon-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene.

PMID: 33886091
Journal: MOLECULAR NEUROBIOLOGY
Year: 2021
Reference: Mol Neurobiol. 2021 Aug;58(8):3938-3952. doi: 10.1007/s12035-021-02391-0. Epub 2021 Apr 22.
Impact factor:
Publication type: Review in international publication
Authors: Bayes, Alex; Cazurro-Gutierrez, Ana; Correa-Vela, Marta; Macaya, Alfons; Marce-Grau, Anna; Perez-Duenas, Belen; Salazar, Ainara; Vanegas, Maria I et al.
DOI: 10.1007/s12035-021-02391-0

Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases.

PMID: 33106568
Journal: Scientific Reports
Year: 2020
Reference: Sci Rep. 2020 Oct 26;10(1):18291. doi: 10.1038/s41598-020-75500-z.
Impact factor:
Publication type: Paper in international publication
Authors: Armangue, Thais; Artuch, Rafael; Cambra, Francisco J; Casas-Alba, Didac; Cuadras, Daniel; Garcia-Cazorla, Angels; Jordan, Iolanda; Launes, Cristian; Molero-Luis, Marta; Munoz-Almagro, Carmen et al.
DOI: 10.1038/s41598-020-75500-z

Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.

PMID: 33022436
Journal: PARKINSONISM & RELATED DISORDERS
Year: 2020
Reference: Parkinsonism Relat Disord. 2020 Nov;80:165-174. doi: 10.1016/j.parkreldis.2020.09.023. Epub 2020 Sep 21.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilera-Albesa, Sergio; Baide-Mairena, Heidy; Cabrera, Jose Carlos; Cazurro, Anna; Correa-Vela, Marta; De Fabregues, Oriol; Eiris, Jesus; Espinos, Carmen; Fernandez-Ramos, Joaquin Alejandro; Garriz-Luis, Maite et al.
DOI: 10.1016/j.parkreldis.2020.09.023

International consensus recommendations on the diagnostic work-up for malformations of cortical development.

PMID: 32895508
Journal: Nature Reviews Neurology
Year: 2020
Reference: Nat Rev Neurol. 2020 Sep 7. pii: 10.1038/s41582-020-0395-6. doi: 10.1038/s41582-020-0395-6.
Impact factor:
Publication type: Review in international publication
Authors: Amrom, Dina; Andres, David Gomez; Aronica, Eleonora; Bahi-Buisson, Nadia; Barakat, Tahsin Stefan; Conti, Valerio; Di Donato, Nataliya; Dobyns, William B; Fry, Andrew E; Geis, Tobias et al.
DOI: 10.1038/s41582-020-0395-6

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

PMID: 32875335
Journal: BRAIN
Year: 2020
Reference: Brain. 2020 Sep 1;143(9):2696-2708. doi: 10.1093/brain/awaa228.
Impact factor:
Publication type: Paper in international publication
Authors: Abdel-Mannan, Omar; Alonso-Jimenez, Alicia; Alonso-Perez, Jorge; Bello, Luca; Bruno, Claudio; Camacho-Salas, Ana; Claeys, Kristl G; Comi, Giacomo Pietro; Costa-Comellas, Laura; D'Amico, Adele et al.
DOI: 10.1093/brain/awaa228

The FOsmetpantotenate Replacement Therapy (FORT) Randomized, Double-Blind, Placebo-Controlled Pivotal Trial: Study Design and Development Methodology of a Novel Primary Efficacy Outcome in Patients With Pantothenate Kinase-Associated Neurodegeneration.

PMID: 31055958
Journal: Clinical Trials
Year: 2019
Reference: Clin Trials. 2019 Aug;16(4):410-418. doi: 10.1177/1740774519845673. Epub 2019 May 6.
Impact factor:
Publication type: Paper in international publication
Authors: Escolar, Maria L; Greblikas, Feriandas; Klopstock, Thomas; Marshall, Randall D; Perez-Duenas, Belen; Tuller, Sarah; Videnovic, Aleksandar et al.
DOI: 10.1177/1740774519845673

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.

PMID: 30340910
Journal: PARKINSONISM & RELATED DISORDERS
Year: 2019
Reference: Parkinsonism Relat Disord. 2019 Apr;61:179-186. doi: 10.1016/j.parkreldis.2018.10.013. Epub 2018 Oct 13.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilera-Albesa, Sergio; Arrabal, Luisa; Camino-Leon, Rafael; Darling, Alejandra; Espinos, Carmen; Fernandez Mesaque, Ramon Candau; Fernandez-Ramos, Joaquin; Garrido, Cristina; Gomez-Martin, Hilario; Huisman, Thierry A G M et al.
DOI: 10.1016/j.parkreldis.2018.10.013

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.

PMID: 30464053
Journal: JOURNAL OF MEDICAL GENETICS
Year: 2019
Reference: J Med Genet. 2019 Apr;56(4):236-245. doi: 10.1136/jmedgenet-2018-105588. Epub 2018 Nov 21.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilera-Albesa, Sergio; Aisa, Eduardo; Algrabli, Adi; Arjona, Cesar; Artuch, Rafael; Bolasell, Merce; Borregan, Mar; Cancho-Candela, Ramon; Carrasco-Marina, M Llanos; Carratala, Francisco et al.
DOI: 10.1136/jmedgenet-2018-105588

Disease duration and disability in dysfelinopathy can be described by muscle imaging using heatmaps and random forests.

PMID: 30578674
Journal: MUSCLE & NERVE
Year: 2019
Reference: Muscle Nerve. 2019 Apr;59(4):436-444. doi: 10.1002/mus.26403. Epub 2019 Jan 10.
Impact factor:
Publication type: Paper in international publication
Authors: Bevilacqua, Jorge A; Diaz, Jorge; Garrido, Cristian; Gomez-Andres, David; Munell, Francina; Pulido-Valdeolivas, Irene; Quijano-Roy, Susana; Sanchez-Montanez, Angel; Suazo, Lionel et al.
DOI: 10.1002/mus.26403

Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results.

PMID: 30028274
Journal: Journal of Neurosurgery-Pediatrics
Year: 2018
Reference: J Neurosurg Pediatr. 2018 Oct;22(4):416-425. doi: 10.3171/2018.5.PEDS1814. Epub 2018 Jul 20.
Impact factor:
Publication type: Paper in international publication
Authors: Alamar, Mariana; Candela, Santiago; Climent, Alejandra; Darling, Alejandra; Ferrer, Enrique; Muchart, Jordi; Ortigoza-Escobar, Juan Dario; Perez-Duenas, Belen; Rumia, Jordi; Vanegas, Maria Isabel et al.
DOI: 10.3171/2018.5.PEDS1814

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.

PMID: 29624713
Journal: MUSCLE & NERVE
Year: 2018
Reference: Muscle Nerve. 2018 Aug;58(2):224-234. doi: 10.1002/mus.26137. Epub 2018 May 14.
Impact factor:
Publication type: Paper in international publication
Authors: Abath Neto, Osorio; Bertini, Enrico; Boland, Anne; Bonnemann, Carsten; Carlier, Robert Y; Castiglioni, Claudia; Catteruccia, Michela; D'Amico, Adele; Dabaj, Ivana; Deleuze, Jean-Francois et al.
DOI: 10.1002/mus.26137

Gait phenotypes in paediatric hereditary spastic paraplegia revealed by dynamic time warping analysis and random forests.

PMID: 29518090
Journal: PLoS One
Year: 2018
Reference: PLoS One. 2018 Mar 8;13(3):e0192345. doi: 10.1371/journal.pone.0192345. eCollection 2018.
Impact factor:
Publication type: Paper in international publication
Authors: Gomez-Andres, David; Lopez-Lopez, Javier; Martin-Gonzalo, Juan Andres; Pascual-Pascual, Samuel Ignacio; Pulido-Valdeolivas, Irene; Rausell, Estrella; Rodriguez-Andonaegui, Irene et al.
DOI: 10.1371/journal.pone.0192345

Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system.

PMID: 29382362
Journal: Orphanet Journal of Rare Diseases
Year: 2018
Reference: Orphanet J Rare Dis. 2018 Jan 30;13(1):28. doi: 10.1186/s13023-018-0758-x.
Impact factor:
Publication type: Paper in international publication
Authors: Aquino, L; Artuch, R; Baide, H; Batllori, M; Darling, A; Duenas, Perez; Kurian, M A; Macaya, A; Marti-Sanchez, L; Molero-Luis, M et al.
DOI: 10.1186/s13023-018-0758-x