Peripheral Nervous System – VHIR Annual Report 2023

The group main research lines were study of the genetic and neuroinflammatory (HLA) factors influencing the course of amyotrophic lateral sclerosis (ALS), and the improvement on genetic diagnosis in patients with rare neuromuscular disease through next generation sequencing. We have also developed two new translational research lines on: genotype-phenotype strategies based on RNAseq analysis of muscle biopsies of patients with neuromuscular diseases and on clinical and molecular biomarkers for the diagnosis, follow-up and personalized treatment in CIDP (Chronic Inflammatory Demyelinating Polyneuropathy, ALS and Guillain-Barré Syndrome. We have obtained public financing (AES 2023 for the project: ”Desarrollo e implementación de un nuevo panel de biomarcadores clínicos y moleculares para pronosticar la progresión y la supervivencia en pacientes con ELA”). We have participated in 29 clinical trials for new treatments in ALS, Myasthenia gravis and CIDP.

eCORE

Woman & Child Health & Rare Diseases

Team

Group Leader
Raul Juntas Morales

Principal Investigator (PI)
Jose Manuel Vidal Taboada

Researchers
David Ovelleiro Fraile, Daniel Sanchez-Tejerina San José, Arnau Llaurado Gayete, Javier Sotoca Garcia, Veronica Lopez Diego, Maria Salvado Figueres, Juan Restrepo Vera

Lab Technicians
Consuelo Garcia Carmona

Nursing and Technical Staff
Carmen Costa Pau Frias

Publications

31.3

%Q1

149

Impact Factor

9.31

Average Impact Factor

Sanchez-Tejerina D, Alvarez PF, Lainez E, Martinez VG, Santa-Cruz DI, Verdaguer L, Gratacos M, Seoane JL, Raguer N, Hernandez-Vara J, Llaurado A, Sotoca J, Salvado M, Arumi EG, Tizzano EF, Juntas R
RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit.
J Neurol Sci. 2023 Mar 15;446:120565.
DOI: 10.1016/j.jns.2023.120565. Epub 2023 Jan 28
IF: 4.55

Llaurado A, Rovira-Moreno E, Codina-Sola M, Martinez-Saez E, Salvado M, Sanchez-Tejerina D, Sotoca J, Lopez-Diego V, Restrepo-Vera JL, Garcia-Arumi E, Juntas-Morales R
Chronic progressive external ophthalmoplegia plus syndrome due to Homozygous Missense Variant in TOP3A gene.
Clin Genet. 2023 Apr;103(4):492-494. Epub 2022 Dec 28.
DOI: 10.1111/cge.14287.
IF: 4.30

Restrepo-Vera JL, Rovira-Moreno E, Ramon J, Codina-Sola M, Llaurado A, Salvado M, Sanchez-Tejerina D, Sotoca J, Martinez-Saez E, Marti R, Garcia-Arumi E, Juntas-Morales R
Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.
J Hum Genet. 2023 Aug;68(8):527-532. . Epub 2023 Mar 23.
DOI: 10.1038/s10038-023-01144-2
IF: 3.77

Sanchez-Tejerina D, Llaurado A, Sotoca J, Lopez-Diego V, Vidal Taboada JM, Salvado M, Juntas-Morales R
Biofluid Biomarkers in the Prognosis of Amyotrophic Lateral Sclerosis: Recent Developments and Therapeutic Applications.
Cells. 2023 Apr 18;12(8):1180.
DOI: 10.3390/cells12081180
IF: 7.67

Restrepo-Vera JL, Munoz-Cabello P, Perez-Rodon J, Rovira-Moreno E, Codina-Sola M, Llaurado A, Salvado M, Sanchez-Tejerina D, Sotoca J, Martinez-Saez E, Garcia-Arumi E, Juntas-Morales R
Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease.
Neuromuscul Disord. 2023 Feb 23;33(6):463-467.
DOI: 10.1016/j.nmd.2023.02.010.
IF: 3.54

Projects

Desarrollo e implementación de un nuevo panel de biomarcadores clínicos y moleculares para pronosticar la progresión y la supervivencia en pacientes con ELA’. Desde 2024 hasta 2026.
Principal Investigator: Raul Juntas Morales
Agency: Instituto de Salud Carlos III
Funding: 190,000 €
Period: 2024-2026

Biomarcadores clínicos, moleculares y neurofisiológicos para el diagnóstico y seguimiento de la polineuropatía desmielinizante inflamatoria crónica.
Principal Investigator: Raul Juntas Morales
Agency: CSL BEHRING
Funding: 20,000 €
Period: 2022-2024

Biomarcadores para el diagnóstico y pronóstico del Síndrome de Guillain-Barré
Principal Investigator: Raul Juntas Morales
Agency: GRIFOLS
Funding: 35,000 €
Period: 2023-2025

‘Estudio en fase III, multicéntrico, aleatorizado, doble ciego, controlado con placebo para evaluar la eficacia, la seguridad, la farmacocinética y la farmacodinámica de nipocalimab administrado a adultos con miastenia grave generalizada’
Principal Investigator: Raul Juntas Morales
Agency: JANSSEN
Funding: 56,000 €
Period: 2021-2024

Estudio en fase 2, multicéntrico, abierto, no aleatorizado, de prueba de concepto para evaluar laeficacia, seguridad y tolerabilidad de BIVV020 en adultos con polineuropatía desmielinizante inflamatoria crónica (CIDP
Principal Investigator: Raul Juntas Morales
Agency: Sanofi
Funding: 35,000 €
Period: 2021-2024