This involves using the same treatment as seen in leukemia (myeloablative conditioning). Myeloid cells are harvested and then separated into wild-type and mutant cells, and then only those with about 50% of the wild-type cells could be grafted back into the patient. This has been shown to be effective in transgenic mice.

Macalester College

- Bone marrow ablation and transplant
- Restoring BDNF in the brain
- Activating downstream targets of BDNF
- Statin drugs

Emerging Treatments for Rett Syndrome

Sontheimer, H. (2015). Diseases of the Nervous System. Academic Press. 

Diseases of the Nervous System 

Bone Marrow Ablation & Transplant as a Treatment for Rett Syndrome

Recent studies show promise for statin drugs (like lovastatin and fluvastatin) to reverse disease phenotype, though more studies need to be done.


Statin Drugs as Treatment for Rett Syndrome

Activating downstream targets of BDNF, such as Akt, phosphoinositide 3-kinase, and mitogen-activated protein kinase, through the use of a recombinant insulin-like growth factor 1 (IGF-1). This has been shown to reverse the disease phenotype of MECP2 knockout mice. It’s currently being studied in 2 clinical trials.

Activating Downstream BDNF Targets as Treatment for Rett Syndrome

Restoring sufficient BDNF in the brain to overcome MeCP2 suppression of the endogenous gene can be done through enhancing glutamate signaling using the AMPAkine CX546 or through a BDNF mimetic like LM22A-4 which activates the same BDNF receptor (TrkB).

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