Rett Syndrome

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Focused Ultrasound Therapy

Focused ultrasound is a rapidly evolving, noninvasive, therapeutic technology with the potential to improve the quality of life and decrease the cost of care for patients with Rett Syndrome. This novel technology focuses beams of ultrasound energy precisely and accurately on targets deep in the brain without damaging surrounding normal tissue.

How it Works
Where the beams converge, focused ultrasound produces two therapeutic effects that are being evaluated.

One mechanism is to temporarily open the blood-brain barrier (BBB) which can facilitate the introduction of therapeutic genetic material. The BBB closes shortly after sonication ends.

Another mechanism is to use neuromodulation that would enhanced release of Brain Derived Neurotrophic Factor (BDNF) which has reduced the impact with Rett Syndrome animal models. While significant preclinical work has been accomplished, there is still much to be done before either technology will be widely available.

Existing therapy for Rett Syndrome is supportive and symptomatic.

For certain patients, focused ultrasound could provide a noninvasive alternative therapy with less risk of complications – such as surgical wound healing or infection – at a lower cost. It can reach the desired target without damaging surrounding tissue and is repeatable, if necessary.

Clinical Trials

At the present time, there are no clinical trials recruiting patients for focused ultrasound treatment of Rett Syndrome.

Regulatory Approval and Reimbursement 

Focused ultrasound treatment for Rett Syndrome is not yet approved by regulatory bodies or covered by medical insurance companies.

See here for a list of laboratory research sites.

Notable Papers

Matagne V, Ehinger Y, Saidi L, Borges-Correia A, Barkats M, Bartoli M, Villard L, Roux JC. A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome. Neurobiol Dis. 2017 Mar;99:1-11. doi: 10.1016/j.nbd.2016.12.009. Epub 2016 Dec 11.

Tsai, SJ. Therapeutic Potential of Transcranial Focused Ultrasound for Rett Syndrome. Med Sci Monit. 2016 Oct 27;22:4026-4029. PMID: 27786169, PMCID: PMC5087669, DOI: 10.12659/msm.898041

Click here for additional references from PubMed.

Early Stage