Basic research is vital to finding a treatment and cure for SMA. It provides fundamental information about what is going wrong in SMA by showing when and where SMN protein is needed. It also indicates how the SMN protein is working in different cell types. Having this kind of information provides seed ideas for new and better ways of making SMA drugs.
Many important questions in SMA basic research remain unanswered today. The current round of new research awards from Families of SMA will help answer some of these, including:
-What function does SMN protein perform in motor neurons?
The projects of Drs. Custer and Androphy at the Indiana University and Dr. Cote at the University of Ottawa will provide a better understanding of what the SMN protein does in motor neurons.
-What tissues are affected by reduced SMN protein?
The grants to Dr. Ko at the University of Southern California and Dr. Sumner at Johns Hopkins University will assess the impact of lowered SMN in two types of glia, or support, cells that interact with motor neurons in severe SMA mouse models. Also, the award to Dr. DiDonato will explore the tissues requiring SMN protein in a less severe SMA mouse model.
-Are there SMA drug targets, in addition to SMN itself?
The funding to Dr. Ma of Northwestern University will explore the molecular pathways controlling degeneration in SMA motor neurons and look for ways to identify and validate new drug targets in these pathways.
-When can SMN protein be provided back and still result in benefit in SMA?
The project of Dr. DiDonato also of Northwestern University is for a new less severe mouse model of SMA, which has the potential to more accurately reflect the human disease. This model will be used to assess when SMN in needed in less severe forms of the disease and how late in the disease course it can be added back and still provide 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.
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.