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The New Zealand Neuromuscular Disease Registry
Journal of Clinical Neuroscience 19 (2012) 1749–1750
Contents lists available at SciVerse ScienceDirect
Journal of Clinical Neuroscience journal homepage: www.elsevier.com/locate/jocn
Short Communication
The New Zealand Neuromuscular Disease Registry Miriam Rodrigues a,b,⇑, Graeme Hammond-Tooke c,d, Alexa Kidd e, Donald Love f, Rakesh Patel g, Hugh Dawkins h, Matthew Bellgard i, Richard Roxburgh a,j a
Neurology Department, Auckland City Hospital, Auckland Mail Centre, Auckland, New Zealand Muscular Dystrophy Association of New Zealand, Sandringham, Auckland, New Zealand c Department of Medicine, University of Otago, Dunedin, New Zealand d Neurology Department, Dunedin Hospital, Dunedin, New Zealand e Canterbury Health Laboratories, Christchurch, New Zealand f Diagnostic Genetics, LabPlus, Auckland City Hospital, Auckland, New Zealand g Paediatric Neurology, Starship Children’s Hospital, Auckland, New Zealand h Office of Population Health Genomics, Department of Health Western Australia, Stirling Street, Perth, Western Australia, Australia i Centre for Comparative Genomics, Murdoch University, Murdoch, Western Australia, Australia j Centre for Brain Research, University of Auckland, Auckland, New Zealand b
a r t i c l e
i n f o
Article history: Received 13 April 2012 Accepted 16 April 2012
Keywords: Neuromuscular disease Patient registry Rare disease Duchenne muscular dystrophy Spinal muscular atrophy Charcot-Marie-Tooth disease
a b s t r a c t The development of effective treatments for neuromuscular diseases is a significant challenge due to difficulties in identifying adequate numbers of patients for clinical trials. Low patient numbers in these rare diseases also has an effect when establishing sound clinical practices based on experience gained from patients with similar diagnosis. The Muscular Dystrophy Association of New Zealand (MDA), working in consort with interested clinicians has established the New Zealand Neuromuscular Disease (NZ NMD) Registry in order to help address these problems. The NZ NMD Registry is exceptional in that it comprises one registry for all neuromuscular conditions and will significantly benefit both patients with neuromuscular disease and their clinicians. Ó 2012 Elsevier Ltd. All rights reserved.
1. Purpose of the registry
2. Organisation and structure of registry
Patient registries for rare diseases have become increasingly recognised as an important step in facilitating research and propagating standards of care.1 The main aim of the New Zealand Neuromuscular Disease (NZ NMD) Registry is to enable people with neuromuscular conditions in New Zealand to participate in research and clinical trials by assisting researchers to recruit clinical trial participants. It has been shown2 that pharmaceutical companies and researchers are more likely to undertake research into rare diseases if there is access to adequately sized patient groups and a network primed for clinical or research trials is already established. New Zealand is an ideal place for such trials to take place because standards of care for people with neuromuscular conditions are comparable to much of Europe, North America and Australia and there is a well-established public health system with explicit governmental support for clinical trials.3
The registry is co-ordinated by the Registry Curator. In order to facilitate the flow of clinical information the role of NZ NMD Registry Curator has been created within the Auckland City Hospital. An Advisory Committee comprising health professionals, consumers and representatives of the Muscular Dystrophy Association of New Zealand (MDA) provides advice and formal approvals for the activities of the registry. The NZ NMD Registry comprises one registry for all neuromuscular conditions, with sub-registries for each of the different neuromuscular conditions, rather than separate databases for each condition. For some conditions there are already-established global registries which the NZ NMD Registry has ethical permission to forward anonymised data to. These registries; the Treat-NMD Duchenne Muscular Dystrophy Registry, the Spinal Muscular Atrophy Registry and the Charcot-Marie-Tooth Disease Registry all have disease-specific fields and data is recorded in a compatible way. For conditions where a suitable international registry has not yet been identified basic demographic and diagnostic information is recorded. The registry has been created using a web-based platform, through collaboration with the Office for Population Health
⇑ Corresponding author. Tel.: +64 274558915. E-mail address: [email protected] (M. Rodrigues). 0967-5868/$ - see front matter Ó 2012 Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.jocn.2012.04.008
1750
M. Rodrigues et al. / Journal of Clinical Neuroscience 19 (2012) 1749–1750
Table 1 New Zealand Neuromuscular Disease Registry enrolments at 31 March 2012 Clinical Diagnosis
Genetic Test Result Not available
Becker muscular dystrophy Carrier Becker muscular dystrophy Duchenne muscular dystrophy Facioscapulohumeral muscular dystrophy Friedreich Ataxia Hereditary Spastic Paraparesis Inclusion body myositis Intermediate muscular dystrophy Kennedy’s disease Limb Girdle muscular dystrophy Manifesting Carrier of muscular dystrophy Myotonic Dystrophy Neurofibromatosis type 1 Pompe Disease Spinal muscular atrophy Spinocerebellar Ataxia MELAS Central Core disease Unknown neuromuscular condition Total
7 8 5 2 1 8 1 3
4 52
Totals
Received 10 2 14 2
17 2 22 7
4 2
6 3 8 1 2 3 1
1 1 1
5 1 1 6
4. Release of information from the registry
4
9 5 1 1 57
9 1 1 15 5 1 1 4 109
MELAS = Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.
Genomics (Western Australia Health) and the Centre of Comparative Genomics (Murdoch University, Western Australia), to provide mechanisms to identify patients for follow-up, on the basis of their demographic, clinical or genetic profile, who may benefit from access to emerging diagnostic tools or therapeutics.4 The internet based platform enables control of access to the information (as determined the Registry Curator), and interpretation of data outputs. 3. Data collection The registry systematically collects disease-specific data in a secure manner that allows interoperability with Australian and other international registries. Patients are recruited through a variety of methods including a public website, regular notices in the quarterly magazine of MDA, mail-outs to members of the MDA, recruitment by MDA fieldworkers, self-referrals and clinician referrals. Patients complete a consent form which includes consent for access to medical records and test results and a registration form which includes demographic, diagnostic and clinical information. The Registry Curator uses this information to create a registry record, and then obtains outstanding information from the patient’s medical record including genetic test results. Where an international database for the patient’s neuromuscular condition has been identified data is also entered on the relevant sub registry. The data is updated annually.
The registry will send anonymised data to international registries approved by the NZ NMD Registry advisory committee. With approval of the Advisory Committee, the registry may also send anonymised data to researchers and will facilitate recruitment to clinical trials by informing potentially eligible participants of the research, inviting them to contact the researcher directly if they are interested. No identifiable patient information will be given to a researcher. 5. Current status In the six months that the registry has been operating the total number of enrolments on the NZ NMD Registry is 109, see Table 1. Over half the enrolments include the patient’s genetic test result. Two thirds of enrolments have been via mail-outs to MDA members. The Registry has received two enquiries for information from the registry; one from TREAT-NMD and one from a local supplement company. 6. Conclusion The NZ NMD Registry will significantly benefit patients with neuromuscular disease and their clinicians by facilitating the recruitment of patients to clinical trials, and by providing a mechanism for the dissemination of information relating to neuromuscular conditions, their standards of care and research developments in the field. Acknowledgements The New Zealand Neuromuscular Disease Registry is sponsored by the Muscular Dystrophy Association of New Zealand and funded by The Richdale Trust. References 1. Hilbert JE, Kissel JT, Luebbe EA, et al. If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD). Contemp Clin Trials 2012;33:302–11. 2. Thompson R, Schoser B, Monckton DG, et al. Patient registries and trial readiness in myotonic dystrophy–TREAT-NMD/Marigold International Workshop Report. Neuromuscul Disord 2009;19:860–6. 3. Government Response to Report of the Health Committee on its Inquiry into improving New Zealand’s environment to support innovation through clinical trials, presented to the House of Representatives in accordance with Standing Order 248 (J.1) 2011. 4. Bellgard M, Mcgregor A, Janon F, et al. A modular approach to disease registry design: successful adoption of an Internet-based rare disease registry. Hum Mutat 2012. [Epub ahead of print].
Contents lists available at SciVerse ScienceDirect
Journal of Clinical Neuroscience journal homepage: www.elsevier.com/locate/jocn
Short Communication
The New Zealand Neuromuscular Disease Registry Miriam Rodrigues a,b,⇑, Graeme Hammond-Tooke c,d, Alexa Kidd e, Donald Love f, Rakesh Patel g, Hugh Dawkins h, Matthew Bellgard i, Richard Roxburgh a,j a
Neurology Department, Auckland City Hospital, Auckland Mail Centre, Auckland, New Zealand Muscular Dystrophy Association of New Zealand, Sandringham, Auckland, New Zealand c Department of Medicine, University of Otago, Dunedin, New Zealand d Neurology Department, Dunedin Hospital, Dunedin, New Zealand e Canterbury Health Laboratories, Christchurch, New Zealand f Diagnostic Genetics, LabPlus, Auckland City Hospital, Auckland, New Zealand g Paediatric Neurology, Starship Children’s Hospital, Auckland, New Zealand h Office of Population Health Genomics, Department of Health Western Australia, Stirling Street, Perth, Western Australia, Australia i Centre for Comparative Genomics, Murdoch University, Murdoch, Western Australia, Australia j Centre for Brain Research, University of Auckland, Auckland, New Zealand b
a r t i c l e
i n f o
Article history: Received 13 April 2012 Accepted 16 April 2012
Keywords: Neuromuscular disease Patient registry Rare disease Duchenne muscular dystrophy Spinal muscular atrophy Charcot-Marie-Tooth disease
a b s t r a c t The development of effective treatments for neuromuscular diseases is a significant challenge due to difficulties in identifying adequate numbers of patients for clinical trials. Low patient numbers in these rare diseases also has an effect when establishing sound clinical practices based on experience gained from patients with similar diagnosis. The Muscular Dystrophy Association of New Zealand (MDA), working in consort with interested clinicians has established the New Zealand Neuromuscular Disease (NZ NMD) Registry in order to help address these problems. The NZ NMD Registry is exceptional in that it comprises one registry for all neuromuscular conditions and will significantly benefit both patients with neuromuscular disease and their clinicians. Ó 2012 Elsevier Ltd. All rights reserved.
1. Purpose of the registry
2. Organisation and structure of registry
Patient registries for rare diseases have become increasingly recognised as an important step in facilitating research and propagating standards of care.1 The main aim of the New Zealand Neuromuscular Disease (NZ NMD) Registry is to enable people with neuromuscular conditions in New Zealand to participate in research and clinical trials by assisting researchers to recruit clinical trial participants. It has been shown2 that pharmaceutical companies and researchers are more likely to undertake research into rare diseases if there is access to adequately sized patient groups and a network primed for clinical or research trials is already established. New Zealand is an ideal place for such trials to take place because standards of care for people with neuromuscular conditions are comparable to much of Europe, North America and Australia and there is a well-established public health system with explicit governmental support for clinical trials.3
The registry is co-ordinated by the Registry Curator. In order to facilitate the flow of clinical information the role of NZ NMD Registry Curator has been created within the Auckland City Hospital. An Advisory Committee comprising health professionals, consumers and representatives of the Muscular Dystrophy Association of New Zealand (MDA) provides advice and formal approvals for the activities of the registry. The NZ NMD Registry comprises one registry for all neuromuscular conditions, with sub-registries for each of the different neuromuscular conditions, rather than separate databases for each condition. For some conditions there are already-established global registries which the NZ NMD Registry has ethical permission to forward anonymised data to. These registries; the Treat-NMD Duchenne Muscular Dystrophy Registry, the Spinal Muscular Atrophy Registry and the Charcot-Marie-Tooth Disease Registry all have disease-specific fields and data is recorded in a compatible way. For conditions where a suitable international registry has not yet been identified basic demographic and diagnostic information is recorded. The registry has been created using a web-based platform, through collaboration with the Office for Population Health
⇑ Corresponding author. Tel.: +64 274558915. E-mail address: [email protected] (M. Rodrigues). 0967-5868/$ - see front matter Ó 2012 Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.jocn.2012.04.008
1750
M. Rodrigues et al. / Journal of Clinical Neuroscience 19 (2012) 1749–1750
Table 1 New Zealand Neuromuscular Disease Registry enrolments at 31 March 2012 Clinical Diagnosis
Genetic Test Result Not available
Becker muscular dystrophy Carrier Becker muscular dystrophy Duchenne muscular dystrophy Facioscapulohumeral muscular dystrophy Friedreich Ataxia Hereditary Spastic Paraparesis Inclusion body myositis Intermediate muscular dystrophy Kennedy’s disease Limb Girdle muscular dystrophy Manifesting Carrier of muscular dystrophy Myotonic Dystrophy Neurofibromatosis type 1 Pompe Disease Spinal muscular atrophy Spinocerebellar Ataxia MELAS Central Core disease Unknown neuromuscular condition Total
7 8 5 2 1 8 1 3
4 52
Totals
Received 10 2 14 2
17 2 22 7
4 2
6 3 8 1 2 3 1
1 1 1
5 1 1 6
4. Release of information from the registry
4
9 5 1 1 57
9 1 1 15 5 1 1 4 109
MELAS = Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.
Genomics (Western Australia Health) and the Centre of Comparative Genomics (Murdoch University, Western Australia), to provide mechanisms to identify patients for follow-up, on the basis of their demographic, clinical or genetic profile, who may benefit from access to emerging diagnostic tools or therapeutics.4 The internet based platform enables control of access to the information (as determined the Registry Curator), and interpretation of data outputs. 3. Data collection The registry systematically collects disease-specific data in a secure manner that allows interoperability with Australian and other international registries. Patients are recruited through a variety of methods including a public website, regular notices in the quarterly magazine of MDA, mail-outs to members of the MDA, recruitment by MDA fieldworkers, self-referrals and clinician referrals. Patients complete a consent form which includes consent for access to medical records and test results and a registration form which includes demographic, diagnostic and clinical information. The Registry Curator uses this information to create a registry record, and then obtains outstanding information from the patient’s medical record including genetic test results. Where an international database for the patient’s neuromuscular condition has been identified data is also entered on the relevant sub registry. The data is updated annually.
The registry will send anonymised data to international registries approved by the NZ NMD Registry advisory committee. With approval of the Advisory Committee, the registry may also send anonymised data to researchers and will facilitate recruitment to clinical trials by informing potentially eligible participants of the research, inviting them to contact the researcher directly if they are interested. No identifiable patient information will be given to a researcher. 5. Current status In the six months that the registry has been operating the total number of enrolments on the NZ NMD Registry is 109, see Table 1. Over half the enrolments include the patient’s genetic test result. Two thirds of enrolments have been via mail-outs to MDA members. The Registry has received two enquiries for information from the registry; one from TREAT-NMD and one from a local supplement company. 6. Conclusion The NZ NMD Registry will significantly benefit patients with neuromuscular disease and their clinicians by facilitating the recruitment of patients to clinical trials, and by providing a mechanism for the dissemination of information relating to neuromuscular conditions, their standards of care and research developments in the field. Acknowledgements The New Zealand Neuromuscular Disease Registry is sponsored by the Muscular Dystrophy Association of New Zealand and funded by The Richdale Trust. References 1. Hilbert JE, Kissel JT, Luebbe EA, et al. If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD). Contemp Clin Trials 2012;33:302–11. 2. Thompson R, Schoser B, Monckton DG, et al. Patient registries and trial readiness in myotonic dystrophy–TREAT-NMD/Marigold International Workshop Report. Neuromuscul Disord 2009;19:860–6. 3. Government Response to Report of the Health Committee on its Inquiry into improving New Zealand’s environment to support innovation through clinical trials, presented to the House of Representatives in accordance with Standing Order 248 (J.1) 2011. 4. Bellgard M, Mcgregor A, Janon F, et al. A modular approach to disease registry design: successful adoption of an Internet-based rare disease registry. Hum Mutat 2012. [Epub ahead of print].