What are patient registries?
Patient registries are databases that contain information about patients with a particular condition. The registries are then used by clinical trial organisers to contact suitable trial participants and invite them to take part.
Submitting your details to a registry does not mean that you are obliged to enrol in clinical trials; it just might give you the option to take part. Equally, it is worth noting that you won’t be guaranteed an opportunity to take part in a trial, often trials require participants that have very specific characteristics so not all patients on the registry will be eligible to take part.
Patient registries have many other benefits. The information they contain can help clinicians and researchers better understand the condition and improve patient care. Many registries also provide relevant information about the condition to registered individuals, for example if a better way of caring for patients is found.
Registries are usually set up at a national level and then the data combined into one international registry. For example, there are now registries for Duchenne muscular dystrophy in over 40 countries and data from these registries is combined into one international registry. For some rarer conditions, or conditions that have many different subtypes such as the congenital muscular dystrophies, international registries have been set up without the intermediate step of national registries.
Is my personal information safe?
Registries are required to adhere to the ‘TREAT-NMD Registries Charter’. This document sets out the recommended best practice for running a registry and provides guidelines to protect your data. At all times the data remains your property and you have the right to withdraw it. Each registry is governed by an oversight committee which includes medical experts and patient representatives.
The registry will provide you with detailed information about how your data is protected before you sign up.
How to register
To register, patients (or their parents/carers) usually answer questions about their symptoms and family history through an online system. Other registries require you to complete the registration questionnaire together with your doctor or Clinical Coordinator. You might also be asked for consent to release your medical records so that information such as the genetic diagnosis can be added to the registry. You can find the web addresses for the registries currently available in Australia below.
Duchenne and Becker muscular dystrophies
To register download the Australian National DMD Registry consent form (with accompanying detailed information about the registry) and complete the registration questionnaire with your doctor or Clinical Coordinator.
To register with the Australian Mitochondrial Disease Patient Registry (Mito Registry) you can fill out a simple online form.
To register you will need to download the consent form (with accompanying detailed information about the registry) and complete the registration questionnaire with your doctor or a Clinical Coordinator. The form isn’t available yet but you can access further information on the Australian Myotonic Dystrophy Registry website.
Amyotrophic lateral sclerosis (ALS)
The Australian Motor Neurone Disease Registry is a clinical database that collects MND patient data. Your neurologist will fill out the registration forms and provide your clinical information to the database.
Spinal muscular atrophy
To register download the Australian National SMA Registry consent form (with accompanying detailed information about the registry) and complete the registration questionnaire with your doctor or a Clinical Coordinator.
Congenital muscle disease
The Congenital Muscle Disease International Registry (CMDIR) is for the many different types of congenital muscular dystrophy, some types of limb girdle muscular dystrophy (LGMD2K, LGMD2I, LGMD2L and LGMD2N) and all types of congenital myopathy.
The Friedreich’s Ataxia Research Alliance (FARA) patient registry collects basic information on individuals with FA around the world. Registration involves filling out an online form.
GNE myopathy/hereditary inclusion body myositis (hIBM)
The GNEM Disease Monitoring Program (GNEM-DMP) is an online patient and physician-reported natural history study. The patient-reported portion of this study, also known as a registry, is where people with GNE myopathy can provide information that will help researchers better understand the condition. GNE myopathy is caused by changes to the ‘GNE ‘gene and is also known as hereditary inclusion body myositis (hIBM), Inclusion body myopathy type 2, Distal myopathy with rimmed vacuoles (DMRV), Quadriceps sparing myopathy (QSM) and Nonaka disease.
Limb girdle muscular dystrophy type 2I and congenital muscular dystrophy type 1C (conditions caused by mutations in the FKRP gene)
The Global FKRP (Fukutin-Related Protein) registry collects data from patients worldwide affected by a mutation in the FKRP gene. Most patients with this type of mutation have a type of limb girdle muscular dystrophy known as type 2I (LGMD2I), but FKRP mutations may also cause a form of congenital muscular dystrophy (CMD) known as MDC1C, and in rare instances the diseases known as Muscle Eye Brain (MEB) disease and Walker-Warburg Syndrome (WWS).
Limb girdle muscular dystrophy type 2B and miyoshi myopathy (conditions caused by mutations in the dysferlin gene).
Both limb girdle muscular dystrophy type 2B (LGMD2B) and miyoshi myopathy are caused by mutations in a gene called dysferlin and data will be collected in the International Dysferlinopathy Registry.
Limb girdle muscular dystrophy type 2A
The LGMD2A Patient Registry is for people diagnosed with limb girdle muscular dystrophy type 2A (LGMD2A), or calpain-3 deficiency (calpainopathy) throughout the world.
Myotubular and Centronuclear Myopathy
The Myotubular and Centonuclear Myopathy Patient Registry is an international database that collects information on all patients with a MTM or CNM diagnosis which has been confirmed via genetic testing or muscle biopsy. The registry also collects female carriers of X-linked MTM especially if they have manifesting symptoms.
- In recent years, TREAT-NMD, a network of excellence funded by the European Union, has been a driving force for the establishment of patient registries. It aims to stimulate the development of national registries in each country which are then combined into a global registry. More information about registries and links to registries in countries other than Australia can be found on the TREAT-NMD website.
If you have any questions about patient registries, please contact MDA
Phone +61 3 9320 9555
Updated 31 March 2014