Registries toolkit

If you are a patient organisation or specialist thinking of setting up a registry in a country where there is no TREAT-NMD registry or for a disease that TREAT-NMD doesn't yet address, this section is for you. Most of these efforts face many of the same challenges that we faced - such as legal and ethical framework, data protection, patient information and consent, professional involvement etc. By providing information about how we addressed some of these questions ourselves, we hope to facilitate and harmonize these efforts.

If you are interested in setting up a registry to link with the TREAT-NMD global registry, we would very much like to hear from you. Please contact Hanns Lochmüller, who will be able to provide further advice and support.

You may also find the documents below provide a useful starting point.

Mandatory items for DMD and SMA
For either a DMD or SMA registry to be compatible with the TREAT-NMD global registry, it must contain the items listed here.

TREAT-NMD Registries Charter 2012
Any national registry wishing to become part of the TREAT-NMD global registry must adhere to this Charter.

A handbook on DMD genetics - guidelines for national curators on the mutation entries in DMD databases and on how to evaluate genetic reports.

A handbook on SMA genetics - guidelines for national curators on the mutation entries in SMA databases and on how to evaluate genetic reports.

Pilot forms for patient self-report database

The following six forms here were produced for the UK SMA registry, which is a joint collaboration between TREAT-NMD and the patient organisation The Jennifer Trust. Much of the information they contain will be applicable to any patient registry. To download these forms, use the "Downloads" section on the left.

• Registry protocol
• UK ethics approval application form
• Consent form
• Self-report form - SMA
• Instructions for self-report form - SMA
• Patient information on TREAT-NMD

Forms have also been produced for a self-report DMD registry, and they can also be downloaded from the "Downloads" section to the left.

• Self-report form - DMD
• Instructions for self-report form - DMD

Web application for an internet-based self-report registry

The SMA registry in the UK and the German SMA and DMD patient registries are based on a web application that was developed at the Munich University Hospital. The software, which is based on the Java Enterprise Edition platform, offers a user-friendly interface for patients enabling them to directly enter and modify their own data online. If you are considering launching a similar registry and would like more details about this software, please contact Hanns Lochmüller.

How to set up a registry using the UMD® system

If you want to set-up a registry for DMD and SMA (or any other gene) you can either develop your own bioinformatics system or you can use the Universal Mutation Database (UMD®) system chosen by many curators. It is freely available and includes all tools necessary to set-up a true knowledgebase system (it means that it includes many analysis tools to extract knowledge from the data).

For DMD or SMA, you can directly download a ready to use system that includes the software and the database (the gene and all corresponding information are already integrated into the data) here:

UMD-DMD database for Mac users (OSX system required)

UMD-DMD database for PC users (Windows 2000, NT… systems required)

UMD-SMA database for Mac users (OSX system required)

UMD-SMA database for PC users (Windows 2000, NT… systems required)

If you want to set up a registry for another gene, you can download the UMD software. You will then need to enter the reference cDNA sequence (text file) as well as the position of each exon relatively to this cDNA. The last step will be to enter the non-coding sequences (5’ and 3’ UTR as well as introns). You can do this yourself or request assistance from the INSERM Marseille team (Christophe Béroud).

UMD software for Mac users (OSX system required)

UMD software for PC users (Windows 2000, NT… systems required)

In order to avoid duplication of similar databases we ask you to contact the curators of any existing related UMD databases. The list of existing UMD databases related to the neuromuscular field and information about their curators is available below:

UMD-BtN1 (Centronuclearmyopathy) Valérie Biancalana

UMD-CAPN3 (LGMD2A, LGMD2B, Myoshimyopathy) Nicolas Lévy and Martin Krahn

UMD-COL6A1 (Ullrich congenital myopathy ;Bethlem myopathy) Valerie Allamand

UMD-COL6A2 (Ullrich congenital myopathy ;Bethlem myopathy) Valerie Allamand

UMD-COL6A3 (Ullrich congenital myopathy ;Bethlem myopathy) Valerie Allamand

UMD-Dynamin2 (Centronuclear myopathy) Marc Bitoun

UMD-DYSF (LGMD2A, LGMD2B, Myoshi myopathy) Nicolas Lévy and Martin Krahn

UMD-EMD (EDMD1) Gisèle Bonne

UMD-LAMA2 (MDC1A) Christophe Béroud

UMD-LMNA (EDMD2, EDMD3, LGMD1B, CMD1A) Gisèle Bonne

UMD-MTM1 (Myotubular myopathy) Valérie Biancalana and Jocelyne Laporte

UMD-SEPN1 (Minicore RSMD1) Anna Ferreiro