A study published online October 8th by the monthly journal ACS Chemical Biology reports that scientists have made “a key advance toward developing the first effective drug treatment for spinal muscular atrophy (SMA).”

SMA is an autosomal recessive neurodegenerative disease characterized by the dramatic loss of spinal motor neurons, resulting in muscle weakness, atrophy, and in the worst cases, the loss of ability to swallow and breathe. SMA occurs when a vital gene, the “survivor motor neuron” gene or “SMN” is deleted or mutated, preventing the creation of a protein necessary for muscle strength. Even though the key SMN gene is deleted, there is a second “copy” gene (the “SMN2″ gene) that continues to produce limited quantities of the SMN protein.

After screening hundreds of thousands of compounds, researchers are looking at C5-quinazolines as a potential method of increasing the SMN2 activity and thus the protein SMA patients lack. According to Jill Jarecki, Ph.D., Research Director at Families of SMA, “the results outlined in the paper and carried out in collaboration with Families of SMA, deCODE chemistry & biostructures, Invitrogen Corporation, and Rutgers University represent a new understanding of the physiological mechanisms that can increase SMN expression and will allow us to move forward in advancing potential treatments for it.”

To read more, click here.

We are pleased to announce today the launch of the International SMA Patient Registry‘s new website. This registry helps facilitate communications between SMA families and SMA researchers. Investigators who are interested in SMA research need access to information concerning SMA patients and families. The International SMA Patient Registry makes this happen by collecting and maintaining information on SMA patients and families.

This project is supported by the Patient Advisory Group of the International Coordinating Committee for SMA Clinical Trials which includes: Families of SMA, Fight SMA, Muscular Dystrophy Association, SMA Foundation, and other SMA advocacy groups. The site is hosted by Indiana University School of Medicine’s Department of Medical and Molecular Genetics, and can be found at https://smaregistry.iu.edu.

Here’s the copy from the official press release, which came out today:

Indianapolis, IN, October 15, 2008.

After many months of anticipation we are pleased to announce the unveiling of the new International Spinal Muscular Atrophy Patient Registry Website! The Website now allows individuals to participate in the Registry completely through on-line interaction including registering, completing questionnaires, learning about and signing up for new research study opportunities and completing annual information updates.

We are excited about the enormous improvement in the speed with which we will be able to communicate with both the research and family community and hope that you will take a moment to visit our new website. Please email any comments on the SMA Registry to: smareg@iupui.edu

This project is supported by the Patient Advisory Group of the International Coordinating Committee for SMA Clinical Trials which includes: Families of SMA, Fight SMA, Muscular Dystrophy Association, SMA Foundation, and other SMA advocacy groups.

About the Registry:
The International Spinal Muscular Atrophy Patient Registry (the Registry) was founded in 1986 at Indiana University. The Registry connects patients and families interested in participating in research and researchers interested in studying SMA. The Registry contains information from over 1,600 families and over 1,700 individuals with SMA from all over the world and continues to grow. The Registry has helped recruit participants for clinical trials and has provided data for important SMA research studies. The Registry helps centralize information on this rare genetic disease, provides families a way to learn about research studies and provides researchers a way to find research participants.

Individuals and families affected by SMA are invited to join the Registry. Participants are asked to complete questionnaires about the symptoms, treatment, medications, and other experiences with SMA.

Participant information is stored in a secure database. Researchers who are interested in studying SMA can request two types of data from the Registry, de-identified information and identifiable information. De-identified information does not contain any names or personal identifiers, and can be given to researchers without having to contact Registry families. Identifiable information includes information that can identify you and will never be released without getting your written permission to do so. Identifiable information includes data such as names and dates of birth. Some researchers may also request contact with families to obtain specific information or to request participation in a research study. In these instances, the Registry will contact each potential participant to ask if they are willing to share their identifiable information for a research project.

In 2008 the Registry joined the group, Translational Research in Europe for the Assessment and Treatment of Neuromuscular Diseases (TREAT-NMD) in a global collaboration to further the research goals of the neuromuscular disease community.