Latest News on the Spinal Muscular Atrophy Registry.  Including Details on Open SMA Studies.
January 29, 2009.

Join the International SMA Patient Registry online!
Click here for the website.

You can join the International Spinal Muscular Atrophy Patient Registry online! The Registry website allows individuals to participate in the Registry completely through on-line interaction including learning about and signing up for new research study opportunities.

The SMA Registry is currently helping to recruit for several studies, including:

- Pilot Study of Biomarkers for Spinal Muscular Atrophy (SMA) (BforSMA): The purpose of BforSMA is to identify potential biomarkers (measures) that can be used to evaluate SMA disease severity. A “biomarker” is something that can be measured to assess disease and treatments (cholesterol level is a biomarker for heart health).

- The Role of Motor Unit Number Estimation (MUNE) in Adults with Spinal Muscular Atrophy: MUNE is a research study that follows the course of motor neuron loss in adults with SMA using the electrophysiological technique of motor unit number estimation (MUNE).

- Prospective Controlled Trial of Valproic Acid in Ambulant Adults with Spinal Muscular Atrophy (VALIANT SMA) Study: VALIANT SMA is a research study to assess the efficacy of oral Valproic Acid (VPA) in adult patients with SMA.

- Outcome and Effect of Pregnancy in Spinal Muscular Atrophy: This is a research study of the effects of pregnancy and delivery on adult women with SMA.

- Phase I/II Trial of Valproic Acid and Carnitine in Infants with Spinal Muscular Atrophy Type I (CARNI-VAL Type I): Carni-Val Type I is a research study to evaluate the combination of Valproic Acid (VPA) and L-Carnitine for the treatment of SMA in infants with SMA type I. These clinical trials are being conducted at several universities across the United States and one location in Canada.

To find out more about all of the open studies the SMA Registry is helping recruit for, please click here or visit:
https://smaregistry.iu.edu/Participant/researchStudies.asp.
If you are interested in any of the studies listed, you can join the Registry and request to have your contact information forwarded to the researchers conducting that study.  

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.

The SMA Registry 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.