Update on trial Moonfish
Subcutaneous ASO drug administration
Pfizer terminated its partnership deal with Repligen
Roche buys France's Trophos to expand in neuromuscular disease
Results from Isis phase 2 trials
This site is dedicated entirely to scientific research on Spinal Muscular Atrophy, also known as SMA (acronym for Spinal Muscular Atrophy), a serious genetic disease against which so far there is no treatment.
But the world studies and, as the research progresses, there is increasing recognition that we are now close to a cure. The countdown has begun and soon will be the day when the dream will become reality!
Understanding the disease
Spinal muscular atrophy (SMA) is an inherited neuromuscular disease, caused by deletion and/or mutation in the SMN1 gene (survival motor neuron).
This gene is responsible for the production of a protein which is essential to the proper working of the motor neurons.
People who are missing both copies of SMN1 have SMA, while carriers are missing only one copy.
The purpose of scientific research on spinal muscular atrophy is the discovery of effective treatment. This is an extraordinary challenge because the disease is caused by the lack of an essential protein, encoded by the gene SMN1. Most drugs used in treatment of diseases block the function of proteins, only few increase or replace it.
This site is supported with the help of Famiglie SMA as part of a common project for the medical and scientific information correct and transparent.
Contact Association for any problem connected to pathology.
This site complies with the HONcode standard for trustworthy health information.
HONcode is designed for three target groups: the general public, health professionals and web editor, actively involving the site owner in the certification process.
- SMA is the #1 genetic killer of young children;
- SMA is estimated to occur in nearly 1 out of every 6,000 births;
- 1 in every 35 people, or nearly 10 million Americans, unknowingly carries the gene deletion responsible for SMA; few have any known family history;
- SMA is a pan-ethnic disease and does not discriminate based on race, ethnicity, or gender;
This site is aimed at everyone involved in the fight against spinal muscular atrophy, whether patients and their families, physicians, health professionals or students of the area. The information in this site serves to enhance, not replace, the doctor-patient relationship.
Funding sources and conflicts of interest: this site is funded solely by Patient Organizations listed above and called "Partner". These sources of funding have not any influence on the editorial content of the site and do not produce conflicts of interest.
Note on sources
LAST UPDATE: June 3, 2015
Our website does not host any form of advertisement!
All data is handled with respect for privacy.
This site is dedicated to the memory of Federico Milcovich and all the people who died prematurely due to spinal muscular atrophy and other neuromuscular diseases.
- - Update on trial Moonfish
- - PTC releases phase 1 data from SMA program
- - Subcutaneous ASO drug administration
- - New animal model for SMA
- - New trial for Isis
- - New targets for SMA therapy
- - Pfizer terminated its partnership deal with Repligen
- - Roche buys France's Trophos to expand in neuromuscular disease
Why are you interested in the SMA?