Home Diseases and Conditions Rett Syndrome

Rett Syndrome

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Development Stage

Early Stage

Focused ultrasound research is in the laboratory phase and is not yet available for patients.

Clinical Trials

Focused ultrasound for this condition is being researched in clinical trials.

International Approval

Focused ultrasound is approved to treat this condition outside the US. Patients can seek commercial treatment at participating international sites.

FDA Approved

The US Food and Drug Administration has approved focus ultrasound for this condition. Patients can seek commercial treatment at participating sites.

Early Stage

Clinical Trials

International

FDA Approved

Focused ultrasound research for this condition is in the laboratory phase and is not yet available for patients.

Focused Ultrasound Therapy

Focused ultrasound is a 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.

Advantages
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.

The Foundation updates these pages regularly, but with the increasing number of clinical trials, we want to be sure that our audience has the latest information available. Therefore, we also added the website search information for the above trials. If you click here, it will take you to the latest information available from https://www.clinicaltrials.gov/. 

Regulatory Approval and Reimbursement 

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

Click 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.