Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 111; no. 12; pp. 4596 - 4601
• Main Authors: Khwaja, Omar S., Ho, Eugenia, Barnes, Katherine V., O'Leary, Heather M., Pereira, Luis M., Finkelstein, Yaron, Nelson, Charles A., Vogel-Farley, Vanessa, DeGregorio, Geneva, Holm, Ingrid A., Khatwa, Umakanth, Kapur, Kush, Alexander, Mark E., Finnegan, Deirdre M., Cantwell, Nicole G., Walco, Alexandra C., Rappaport, Leonard, Gregas, Matt, Fichorova, Raina N., Shannon, Michael W., Sur, Mriganka, Kaufmann, Walter E.
• Format: Journal Article
• Language: English
• Published: United States National Academy of Sciences 25.03.2014; National Acad Sciences
• Subjects: Anxiety; Anxiety disorders; Apnea; Biological Sciences; Breathing; Child; Child, Preschool; Dosage; Effectiveness studies; Experimentation; Female; Growth hormones; Heart rate; Humans; Insulin-Like Growth Factor I - adverse effects; Insulin-Like Growth Factor I - pharmacokinetics; Insulin-Like Growth Factor I - therapeutic use; Intellectual disability; Intercellular Signaling Peptides and Proteins - adverse effects; Intercellular Signaling Peptides and Proteins - pharmacokinetics; Intercellular Signaling Peptides and Proteins - therapeutic use; Kinetics; Mutation; Neurological disorders; Pharmacokinetics; Pharmacology; Recombinant Proteins - adverse effects; Recombinant Proteins - pharmacokinetics; Recombinant Proteins - therapeutic use; Rett Syndrome - drug therapy; Somatomedins

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder mainly affecting females and is associated with mutations in MECP2, the gene encoding methyl CpG-binding protein 2. Mouse models suggest that recombinant human insulin-like growth factor 1 (IGF-1) (rhIGF1) (mecasermin) may improve...