The most recent Drug Discovery Compass can be found by clicking here.

 

Traditionally it has been difficult to attract major pharmaceutical companies to conduct research for orphan diseases like SMA, which have small patient populations with small potential for profit. Therefore FSMA has taken the strategy of providing seed funding to encourage biotech and pharmaceutical partners to engage in SMA drug research.   Our objective is to reduce the risk for industrial partners by simultaneously providing funding, research tools, scientific expertise, and established clinical networks.  This strategy effectively lowers the barriers for embarking in SMA drug discovery.  

Our first venture into drug discovery began in 2000 as collaboration with Aurora Biosciences, since acquired by Vertex Pharmaceuticals. The initial goal of our collaboration was to develop screening tools to search for chemical compounds that could increase SMN levels from the SMN2 gene. 

 

Several compounds with the capability of doing this were discovered, and one of these compound classes called Quinazolines has since been chemically modified at deCODE Chemistry with full funding by FSMA to optimize and generate drug-like properties.  In late 2007 a clinical candidate was selected.

In August of 2009, FSMA received FDA Orphan Drug Designation For Quinazoline495, our clincial candidate in this program, for the treatment of SMA. Pleae click here to read more.

 

In October of 2009, Families of SMA licensed this series of compounds to Repligen Corporation for development as a treatment for Spinal Muscular Atrophy.  Please click here to read more about this groundbreaking agreement.

 

Safety studies required for an Investiational New Drug Application to the FDA to begin human testing have been completed on the lead compound. Preparations are now underway for a pre-IND meeting with the FDA to discuss the possiblity of human safety trials. The most update information about the program can be found using the link to our recent Drug Disovery Compass at the top of this page.

One major goal at FSMA is to build a therapeutics pipeline for SMA, which will greatly increase our chances of successfully developing a SMA therapy. Therefore in March 2006 we began funding a second drug discovery program at Paratek Pharmaceuticals that focuses on Tetracycline-like compounds that correct SMN2 splicing. 

 

This projects takes a different approach to increasing SMN levels than our Quinazoline program described above.  Importantly because these two classes of compounds work in different and complimentary ways, they have the potential to increase SMN levels to a higher level in combination use than with either drug alone.

 

Drug Development Process:
The drug development process is a long multi-stepped process, as described in the two figures below. The initial phase when the drug is being generated is called preclinical drug discovery.  The second stage when the drug is being tested in humans in called the development phase.  The process typically takes 10 to 15 years from start to finish, although for an orphan disease disesae like SMA certain steps in the process can sometimes be streamlined.

Please see our new booklet the "Family Gudie on SMA Research" for a more comprehensive explaination of the drug development process.
 

Building a Drug Pipeline: 

 

 
Families of SMA plans to fund several additional early stage drug programs in the near future to broaden the SMA therapeutics pipeline further.  A “drug pipeline” is a way of saying that we need multiple drug candidates moving forward at the same time. Because so many drugs fail when going through the different phases of drug development, it is important to have new ones always coming up for consideration. With a drug pipeline, when one drug candidate drops out, another one will always be there.