Niemann-Pick Disease

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Focused Ultrasound Therapy

Focused ultrasound is an early-stage, noninvasive, therapeutic technology with the potential to improve the quality of life and decrease the cost of care for patients with Niemann-Pick Disease. This novel technology focuses beams of ultrasound energy precisely and accurately on targets deep in the body without damaging surrounding normal tissue.

How it Works
Patients with Niemann-Pick disease lack certain enzymes for the metabolism of fat. Where the focused ultrasound beams converge, transient opening of the blood-brain barrier (BBB) can allow enhanced penetration into the central nervous system of a synthetic replacement enzyme.

Another area being explored is using focused ultrasound for transient BBB opening to allow modified RNA penetration into the central nervous system, enabling production of the needed enzyme. Preclinical research for both of these mechanisms is being evaluated.

Advantages
The primary options for treatment of Niemann-Pick Disease are primarily supportive therapies as there is no cure.

For certain patients, focused ultrasound could provide a therapeutic option for these patients. While significant work has been accomplished, there is still much to be done before this technology will be widely available.

Focused ultrasound is noninvasive, so it does not carry added concerns like surgical wound healing or infection. It can also 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 Niemann-Pick disease.

Regulatory Approval and Reimbursement 

Focused ultrasound treatment for Niemann-Pick disease is not yet approved by regulatory bodies or covered by medical insurance companies.

Notable Papers

Carradori D, Chen H, Werner B, Shah AS, Leonardi C, Usuelli M, Mezzenga R, Platt F, Leroux JC. Investigating the Mechanism of Cyclodextrins in the Treatment of Niemann-Pick Disease Type C Using Crosslinked 2-Hydroxypropyl-beta-cyclodextrin. Small. 2020 Nov;16(46):e2004735. doi: 10.1002/smll.202004735. Epub 2020 Oct 20. PMID: 33079457

Click here for additional references from PubMed.

Early Stage