FKRP mutation (Dystroglycanopathies) registry

The International Registry for patients with FKRP mutations has been officially launched on 1st March 2011. The registry is a patient initiated registry and designed for patients with LGMD2I, MDC1C or other conditions caused by a mutation in the FKRP gene. The FKRP registry is aimed at both, collecting data for natural history studies or other research studies, as well as being a source for potential identification of patients suitable for specific clinical trials or scientific studies. The patients themselves would only be identified by those explicitly appointed by the principle investigator of the registry, who are the only persons knowing the patients’ personal details. In addition to the above objectives, the registry will support other activities to improve patient care and establish a good standard of care worldwide.

As part of the registry, the patients consent online for their nominated doctor to enter a part of their medical data, including respiratory status, cardiac scans, genetic mutation, muscle strength and other outcome measures. To make sure that the data in the registry is correct and up-to-date, an email will be generated on an annual basis to both patient and doctor to prompt updating of their parts of the data.

All information will be treated confidentially and will be encrypted and stored on a secure server; the data will be kept for an indefinite period in computer servers located in Munich, under the responsibility of Dr Maggie Walter.

To register visit www.FKRP-registry.org

Please also read the brochure for further information about the registry.

Australian National Spinal Muscular Atrophy Registry

The Australian National SMA Registry provides an opportunity for Australian SMA patients to participate in clinical trials being undertaken anywhere in the world. The Registry is linked directly to the TREAT-NMD global network of registries, an international effort which has proven effective in improving the health and management of boys with DMD. The Registry provides an important enabling tool for clinicians and clinical trial sponsors to quickly identify patients suitable for each study, particularly those therapeutic strategies that target specific genetic defects.

Potential Benefits of a SMA Registry

• Centralise information and provide an interface between patients, doctors and researchers

• Coordination of diagnosis, therapy and prevention – universally available across Australia

• Promote sense of community and belonging among affected patients and families and provide ready access to information concerning standards of care, research and available therapies

• Monitor and benchmark data to improve health care performance across institutions and providers

• Promote baseline standards of care available to all patients and families – provision of the “right care at the right time”

• Provide essential information necessary to leverage government and industrial support for further infrastructure

The database is open to anyone affected by DMD and is entirely voluntary – data obtained is held securely and confidentially. Most of the clinical and genetic information about each patient will be entered locally by the patient’s primary physician in association with the genetic testing laboratories in each state.

To REGISTER, please follow this link to visit the Australian Neuromuscular Disease Registry website.

New Zealand SMA Registry

The New Zealand Spinal Muscular Atrophy (SMA) Registry has been developed to collate a participant’s SMA gene sequence and clinical information about their condition. The Registry provides an important enabling tool for clinicians and clinical trial sponsors to quickly identify participants suitable for each study, particularly those therapeutic strategies that target specific genetic defects. Potentially eligible participants will be informed about new trials and studies through the Registry’s clinical network.

Please visit the SMA Registry website for more information, including the consent form.

The Congenital Muscle Disease International Registry (CMDIR)

The Congenital Muscular Dystrophy International Registry (CMDIR) was created to identify the global CMD population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. The CMDIR is a patient self report registry, launched in September 2009, now available in French, German, Spanish and English, with Turkish, Danish, Italian, Japanese and Portuguese pending.

The registry includes demographic, disease specific and diagnostic questions.  The CMDIR has online help and genetic counselors available to answer questions.  If patients do not yet have genetic confirmation of disease, CMDIR counselors will help find a laboratory to determine the genetic mutation (if known).

CMD Subtypes included in CMDIR:

• Ullrich CMD
• Merosin deficient
• CMD, undiagnosed (including merosin positive)
• Dystroglycanopathy (WWS, MEB, Fukuyama)
• Integrin alpha 7 deficiency
• Integrin alpha 9 deficiency
• Laminopathy (Lamin A/C)
• SEPN 1related myopathies: SEPN (selenoprotein deficiency) and RYR 1(ryanodine receptor)

LGMD subtypes included in CMDIR:

• Bethlem myopathy
• Dystroglycanopathies (LGMD2K, LGMD2I, LGMD2L, LGMD2N)

The CMDIR’s goal is to register the global CMD population, both those with and without genetic confirmation and to provide a centralised resource for the posting of CMD- LGMD clinical studies and trials. The CMDIR registers across the CMD to LGMD spectrum for the “CMD” genes with the knowledge that therapeutic development may not differentiate between age of onset.

The CMDIR is neither a natural history study nor a genotype-phenotype database – it exists as a patient/family resource with the ability to contact eligible patients regarding active and recruiting CMD clinical studies and trials with no obligation to participate.

Click here to register.