Rett Syndrome IGF-1 Trials

Initial Rett Syndrome IGF-1 Trial

A clinical study was performed at the Tuscany Rett Center in Italy in order to study IGF1 as a possible treatment for Rett Syndrome and the safety thereof.  The study was performed on six Rett Patients.

The conclusion was as follows:

[quote]  The data show that IGF1 administration is safe and well tolerated by the tested patients and can be administered to RTT patients with consistent monitoring of the risk parameters. One subject developed bilateral mammary hyperplasia but it regressed spontaneously without administration of additional therapies or interruption of IGF1 treatment. The appearance of seizures in two of the subjects during the treatment is in line with the seizure outcome in RTT patients in the considered age range and therefore it is unlikely to be determined by IGF1—although we cannot exclude it. This observation is supported by the fact that the subjects that were exposed to IGF1 being previously treated with AED did not experience an increase in seizures nor required any adjustment of the antiepileptic medications.

All the families and caretakers observed an improvement in the cognitive abilities of the girls and in the interactions with the surrounding environment. However, we could not quantify this improvement. We plan to investigate this aspect with the appropriate equipment in further studies. Interestingly, the patients with the less severe symptoms reported improvements in motor abilities (S3, S4, and S6) and in some cases the improvements were retained even after the end of the treatment. We observed no relationship between the effects of IGF1 treatment and the specific MeCP2 mutation, although the number of patients treated was too low to establish any correlation. Results from this study suggest that the IGF1 treatment is well tolerated by RTT patients and does not present major and/or permanent side effects. Three out of six girls treated reported benefits, although a bigger double-blind placebo-controlled study is requested to quantify the efficacy of the treatment. [unquote]

Rett Syndrome IGF-1 Trial Boston

Extracted from Rett Syndrome Research Trust Foundations Website

[quote] A trial treatment currently underway in Boston will be assessing the outcome of daily injections of IGF-1, a growth factor which has been used for many years to increase height in children of unusually small stature, or who lack normal levels of IGF-1. The rationale for using this as a treatment in Rett is a 2009 publication in PNAS. The study noted improvement of certain functions in Rett mouse models in response to IGF-1 administration, although the mice still developed the full range of symptoms and died prematurely. The double-blind trial explores whether significant results will be seen in human subjects, and if so, whether they will be sustained post-treatment.[unquote]


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