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Phone: 773-751-9010

E-Mail: smard@smashsmard.org

Address: 3 Londonderry Lane

               Lincolnshire, IL 60069

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smashSMARD is recognized as tax-exempt under section 501(c)3 of the Internal Revenue Code. EIN: 82-5388567

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GENE THERAPY RESEARCH

What's happening now...

Gene therapy research for SMARD is in progress, but we need YOUR help to raise approximately $1.5 million to keep the research moving forward. Gene therapy aims to replace or correct the faulty IGHMBP2 gene and is a well-documented treatment for this disease in animal models. The plan is to translate this promising data into human clinical trial as early as 2020!

The funding is broken up into three stages as follows:

GOAL #2: Source material for clinical vector (which is a virus to allow the gene to cross the blood-brain barrier).

GOAL #1Complete small scale dosing study with two different viral vectors and compare promoters and delivery routes.

GOAL #3: Produce clinical vector for 6-12 patients.

CLICK TO READ ARTICLES ABOUT GENE THERAPY

Once these stages are complete, the researchers will move on to some safety studies and then, barring any issues (including additional funding), will start a clinical trial. The best way to get these children treatment as soon as possible is to raise the necessary funds immediately. SmashSMARD plans to do our part to make sure the research stays on track. Thank you so much for helping us to meet the Stage 1 goal! Let's keep the progress going!!!

What's been done before...

A gene therapy clinical trial was conducted for SMA Type 1 at Nationwide Children's Hospital in 2014. Though SMARD involves a different gene mutation, both are nuerodegenerative genetic diseases. As in SMARD, infants with SMA type 1 generally have symptoms that include hypotonia (weak muscle tone, especially in the arms and legs), and difficulty moving, eating, breathing, and swallowing. Infants are unable to raise their head or sit unaided. All 15 babies treated for SMA1 in the clinical trial, expected to die by age 2, were alive at 20 months or older, and most could sit up, according to a report in The New England Journal of Medicine (NEJM). We are hopeful that a SMARD clinical trial will produce encouraging results as well! These beautiful faces, as well as those not yet diagnosed, deserve a shot at a treatment.

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