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. 2025 Jul 29;135(19):e193107.
doi: 10.1172/JCI193107. eCollection 2025 Oct 1.

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

Elena Godoy-Molina  1   2 , Natalia L Serrano  3 , Aquilina Jiménez-González  4 , Miquel Villaronga  5 , Rosa M Marqués Pérez-Bryan  6 , Rubén Varela-Fernández  7 , Stephanie Lotz-Esquivel  3 , Alba Hevia Tuñón  4 , Prachi P Trivedi  8 , Nina Horn  9 , Joseph F Standing  10   11 , Víctor Mangas-Sanjuan  12   13 , Mercè Capdevila  14 , Aurora Mateos  15   16 , Denis Broun  15 , Svetlana Lutsenko  17 , Ines Medina-Rivera  18 , Rafael Artuch  19   20 , Cristina Jou  21 , Mònica Roldán  22 , Pedro Arango-Sancho  23 , Mónica Saez-Villafañe  7 , Juan J Ortiz-de-Urbina  7 , Angela Pieras-López  5 , Marta Duero  5 , Rosa Farré  5 , Jordi Pijuan  3   20 , Janet Hoenicka  3   20 , James C Sacchettini  8 , Michael J Petris  24 , Vishal M Gohil  8 , Francesc Palau  3   20   25   26
Affiliations

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

Elena Godoy-Molina et al. J Clin Invest. .
No abstract available

Keywords: Clinical Research; Genetic diseases; Genetics; Neurodegeneration; Neuroscience; Therapeutics.

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Conflict of interest statement

Conflict of interest: The conflict-of-interest statement appears in the supplemental materials.

Figures

Figure 1
Figure 1. Evolution of neurodevelopmental milestones in NP#1 and NP#2 following the treatment with ES-Cu.
(A and B) Measurements for each neurological domain were taken using the Bayley-III scale. (A) For NP#1, evaluations occurred every 2 months during the first 20 months (20–40 months of age), while (B) NP#2 was assessed at 4 intervals. (C and D) Comparison of Bayley-III domain scores at age 20 months between (C) NP#1 and (D) NP#2. (E) Comparison of gross motor milestones acquisition between NP#1 and NP#2. LoF, loss of function.
See this image and copyright information in PMC

References

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