FDA approves clinical trial with gene therapy
PTC announces selection of SMA drug candidate
Two new studies on candidate drug RG3039
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: October 31, 2013
No advertising on this site!
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.
- - Gene therapy for spinal muscular atrophy
- - Update on SMA Isis clinical trials
- - Isis reports follow-up data from ISIS-SMNRx phase 1 study
- - Repligen receives first milestone payment from Pfizer
- - FDA approves clinical trial with gene therapy
- - PTC announces selection of SMA drug candidate
- - New treatments possibilities for SMA
- - Positive results in study of clenbuterol on SBMA
Why are you interested in the SMA?