Supported by the AFM, the UMD-SMN1 France database (UMD for Universal mutation database) was established in February 2011. Every French molecular diagnostic laboratory and Reference Centre for neuromuscular diseases, including the Institute of Myology, was called upon to help build this database.

Objective
This database aims to collect the molecular and clinical data of all individuals in France with proximal SMA linked to the SMN1 gene. The centralised collection of this data will allow to better understand the SMN1 gene mutations, to study the natural history of the disease, to establish genotype/phenotype correlations and to identify patients likely to participate in clinical research.

The UMD-SMN1 France database also participates to the Treat-NMD network (www.treat-nmd.fr) and, subject to signed informed consent by the participants, contributes to the achievement of the Treat-NMD European register.

Analytical tools and available results
A summary of the most important results is available free of charge on the website, www.umd.be/SMN1/. Moreover, after obtaining a password and after signing the terms of use, analytical tools using anonymous genetic and clinical data will be available to doctors and scientists.

The involvement of all is essential to the success of this project
The consent form has already been sent to doctors and families. It is available at www.umd.be/SMN1/.
This form must be imperatively co-signed by patients and the specialist who follows them. The consents are transmitted to a curator who will collect the data for input into the UMD-SMN1 France database. All these data, medical, clinical and genetic, are strictly confidential and anonymous. Patients may at any time access, correct or request removal of their information from the database.

Source: www.umd.be/SMN1/