Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease

Elena Godoy-Molina; Natalia L. Serrano; Aquilina Jiménez-González; Miquel Villaronga; Rosa M. Marqués Pérez-Bryan; Rubén Varela-Fernández; Stephanie Lotz-Esquivel; Alba Hevia Tuñón; Prachi P. Trivedi; Nina Horn; Joseph F. Standing; Víctor Mangas-Sanjuan; Mercè Capdevila; Aurora Mateos; Denis Broun; Svetlana Lutsenko; Ines Medina-Rivera; Rafael Artuch; Cristina Jou; Mònica Roldán; Pedro Arango-Sancho; Mónica Saez-Villafañe; Juan J. Ortiz-de-Urbina; Angela Pieras-López; Marta Duero; Rosa Farré; Jordi Pijuan; Janet Hoenicka; James C. Sacchettini; Michael J. Petris; Vishal M. Gohil; Francesc Palau

doi:10.1172/JCI193107

Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease

Elena Godoy-Molina, Natalia L. Serrano, Aquilina Jiménez-González, Miquel Villaronga, Rosa M. Marqués Pérez-Bryan, Rubén Varela-Fernández, Stephanie Lotz-Esquivel, Alba Hevia Tuñón, Prachi P. Trivedi, Nina Horn, Joseph F. Standing, Víctor Mangas-Sanjuan, Mercè Capdevila, Aurora Mateos, Denis Broun, Svetlana Lutsenko, Ines Medina-Rivera, Rafael Artuch, Cristina Jou, Mònica RoldánPedro Arango-Sancho, Mónica Saez-Villafañe, Juan J. Ortiz-de-Urbina, Angela Pieras-López, Marta Duero, Rosa Farré, Jordi Pijuan, Janet Hoenicka, James C. Sacchettini, Michael J. Petris, Vishal M. Gohil, Francesc Palau

Department of Clinical Genetics

Original language	English
Journal	The Journal of clinical investigation
Volume	135
Issue number	19
ISSN	0021-9738
DOIs	https://doi.org/10.1172/JCI193107
Publication status	Published - 1 Oct 2025

Keywords

Clinical Research
Genetic diseases
Genetics
Neurodegeneration
Neuroscience
Therapeutics

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10.1172/JCI193107Licence: CC BY

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Godoy-Molina, E., Serrano, N. L., Jiménez-González, A., Villaronga, M., Marqués Pérez-Bryan, R. M., Varela-Fernández, R., Lotz-Esquivel, S., Hevia Tuñón, A., Trivedi, P. P., Horn, N., Standing, J. F., Mangas-Sanjuan, V., Capdevila, M., Mateos, A., Broun, D., Lutsenko, S., Medina-Rivera, I., Artuch, R., Jou, C., ... Palau, F. (2025). Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease. The Journal of clinical investigation, 135(19). https://doi.org/10.1172/JCI193107

Godoy-Molina, E, Serrano, NL, Jiménez-González, A, Villaronga, M, Marqués Pérez-Bryan, RM, Varela-Fernández, R, Lotz-Esquivel, S, Hevia Tuñón, A, Trivedi, PP, Horn, N, Standing, JF, Mangas-Sanjuan, V, Capdevila, M, Mateos, A, Broun, D, Lutsenko, S, Medina-Rivera, I, Artuch, R, Jou, C, Roldán, M, Arango-Sancho, P, Saez-Villafañe, M, Ortiz-de-Urbina, JJ, Pieras-López, A, Duero, M, Farré, R, Pijuan, J, Hoenicka, J, Sacchettini, JC, Petris, MJ, Gohil, VM & Palau, F 2025, 'Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease', The Journal of clinical investigation, vol. 135, no. 19. https://doi.org/10.1172/JCI193107

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title = "Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease",

keywords = "Clinical Research, Genetic diseases, Genetics, Neurodegeneration, Neuroscience, Therapeutics",

author = "Elena Godoy-Molina and Serrano, \{Natalia L.\} and Aquilina Jim{\'e}nez-Gonz{\'a}lez and Miquel Villaronga and \{Marqu{\'e}s P{\'e}rez-Bryan\}, \{Rosa M.\} and Rub{\'e}n Varela-Fern{\'a}ndez and Stephanie Lotz-Esquivel and \{Hevia Tu{\~n}{\'o}n\}, Alba and Trivedi, \{Prachi P.\} and Nina Horn and Standing, \{Joseph F.\} and V{\'i}ctor Mangas-Sanjuan and Merc{\`e} Capdevila and Aurora Mateos and Denis Broun and Svetlana Lutsenko and Ines Medina-Rivera and Rafael Artuch and Cristina Jou and M{\`o}nica Rold{\'a}n and Pedro Arango-Sancho and M{\'o}nica Saez-Villafa{\~n}e and Ortiz-de-Urbina, \{Juan J.\} and Angela Pieras-L{\'o}pez and Marta Duero and Rosa Farr{\'e} and Jordi Pijuan and Janet Hoenicka and Sacchettini, \{James C.\} and Petris, \{Michael J.\} and Gohil, \{Vishal M.\} and Francesc Palau",

year = "2025",

month = oct,

day = "1",

doi = "10.1172/JCI193107",

language = "English",

volume = "135",

journal = "The Journal of clinical investigation",

issn = "0021-9738",

publisher = "American Society for Clinical Investigation",

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TY - JOUR

T1 - Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease

AU - Godoy-Molina, Elena

AU - Serrano, Natalia L.

AU - Jiménez-González, Aquilina

AU - Villaronga, Miquel

AU - Marqués Pérez-Bryan, Rosa M.

AU - Varela-Fernández, Rubén

AU - Lotz-Esquivel, Stephanie

AU - Hevia Tuñón, Alba

AU - Trivedi, Prachi P.

AU - Horn, Nina

AU - Standing, Joseph F.

AU - Mangas-Sanjuan, Víctor

AU - Capdevila, Mercè

AU - Mateos, Aurora

AU - Broun, Denis

AU - Lutsenko, Svetlana

AU - Medina-Rivera, Ines

AU - Artuch, Rafael

AU - Jou, Cristina

AU - Roldán, Mònica

AU - Arango-Sancho, Pedro

AU - Saez-Villafañe, Mónica

AU - Ortiz-de-Urbina, Juan J.

AU - Pieras-López, Angela

AU - Duero, Marta

AU - Farré, Rosa

AU - Pijuan, Jordi

AU - Hoenicka, Janet

AU - Sacchettini, James C.

AU - Petris, Michael J.

AU - Gohil, Vishal M.

AU - Palau, Francesc

PY - 2025/10/1

Y1 - 2025/10/1

KW - Clinical Research

KW - Genetic diseases

KW - Genetics

KW - Neurodegeneration

KW - Neuroscience

KW - Therapeutics

UR - https://www.scopus.com/pages/publications/105017654196

U2 - 10.1172/JCI193107

DO - 10.1172/JCI193107

M3 - Journal article

C2 - 40728898

AN - SCOPUS:105017654196

SN - 0021-9738

VL - 135

JO - The Journal of clinical investigation

JF - The Journal of clinical investigation

IS - 19

ER -

Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease

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