The objective of this work is to determine if re-introducing SMN after disease onset and once functional loss has already occurred in milder forms of SMA can be of benefit. Additionally we will also determine whether increasing SMN only in the spinal cord of adult mice will be useful, using the same mild mouse model.
The researchers are using a mild SMA mouse that carries the human SMN2 gene and is also inducible. This means they can increase Smn levels in the animal in different tissues and at different times. In the first set of experiments, they will increase SMN everywhere in the body but at different times. This will allow the researchers to bypass potential problems that might exist in one organ system or another. In the second set of experiments they will only increase SMN in the spinal cord. This experiment will determine whether high levels of SMN are only required within the CNS.
Earlier this year, FSMA's Advisory Boards met to evaluate new research funding for 37 basic research grant applications and 7 drug discovery projects for SMA. The organization is planning to award $1.4 Million in new research funding over the next few months. This new round of research funding will be allocated into three areas: 1) Basic Research to understand the disease and provide ideas for drug making, 2) Drug Discovery to develop new SMA therapies, and 3) Clinical Research to help test new drugs effectively and to improve care for patients.
This grant to Dr. DiDonato at Northwestern University will help us understand when and where SMN protein is needed in less severe SMA. This will help answer two key basic research questions of what tissues are affected by reduced SMN protein and when can SMA be provided back and still give benefit?
The basic research that Families of SMA has funded, through 145 research grants to 75 institutions around the world, has delivered major discoveries:
-The cause of SMA in now known. Which means that treatments can be developed that correct the underlying cause of the disease rather than just reduce symptoms.
-A back-up gene for SMA has been identified. Which means a straightforward drug target is already in the body: a built-in switch for new therapies to work on.
Using this knowledge, there are now 3 clinical trials testing new SMA therapies, and an additional 10 programs in earlier stages of the drug development pipeline.