MDF has strongly supported the inclusion of the patient voice in both care and therapy development for DM. The most recent examples of these efforts are the Patient Focused Drug Development meeting held with FDA, and its subsequent Voice of the Patient report, and the development of DM Care Considerations to drive improved clinical management of patients living with DM. MDF also has long focused on collecting patient- and caregiver-reported data through the Myotonic Dystrophy Family Registry.
To provide the highest level of support to those living with DM, it is important to not only utilize registries for collection of both patient/care provider-reported and clinical data, but to ensure the utilization and sharing of these data to meet the goals of improved care and optimized clinical trials.
The Canadian Neuromuscular Disease Registry (CNDR)
The CNDR is a clinic-based enrollment and data entry registry focused on regular clinical contact with registrants and accurate retrospective data collection from patient charts. Dr. Craig Campbell (University of Western Ontario) and colleagues have recently published information on the CNDR’s efforts to support research into potential therapies for a wide range of neuromuscular diseases, including DM (Wei et al., 2018).
The CNDR’s website reports a current total of 3,440 registrants (https://cndr.org); the publication by Dr. Campbell and colleagues reports out on details of the overall registry (including design, consent, data collection and management, and access policies) and data from its pediatric registrants. The CNDR’s pediatric registrants include 249 with dystrophinopathies, 57 with DM, 98 with SMA, and 65 with LGMD. The CNDR houses clinical data obtained from retrospective chart evaluation and data obtained during clinic visits. CNDR data is used to support both research proposal and statistical data requests.
CNDR has supported 30 study requests for pediatric data (20 clinical trials, 5 mail surveys, and 5 other studies). Two of the mail surveys have focused on DM (parent reported burden of disease in CDM and childhood-onset DM1, Johnson et al., 2016; access to technology survey in DM). The ‘other’ studies included a study of CDM and a study of ventilator support use in pediatric patients with DM1. The paper’s authors note that they are exploring post-marketing surveillance models as a potential resource for companies engaging in clinical trials in neuromuscular diseases.
Moving Forward with Registries
The success of individual registries like the CNDR is laudable in fostering improved care and therapy development for rare neuromuscular diseases. As for many neuromuscular diseases, the DM field has harmonized clinical study and registry data collection. Thus, there’s a firm basis for data sharing and meta-analysis of the smaller cohorts that are spread among multiple DM registries. For any rare disease, it is especially important that data not remain siloed, as that’s a hindrance to assembling cohorts that are sufficient to reach meaningful conclusions about disease course and clinical trial endpoints. The DM field will only meet the expectations and trust of the patients who so willingly share their data when cultural changes occur and analysis of internationally shared data is possible (Larkindale and Porter, 2018).
The Canadian Neuromuscular Disease Registry: Connecting patients to national and international research opportunities.
Wei Y, McCormick A, MacKenzie A, O'Ferrall E, Venance S, Mah JK, Selby K, McMillan HJ, Smith G, Oskoui M, Hogan G, McAdam L, Mabaya G, Hodgkinson V, Lounsberry J, Korngut L, Campbell C.
Paediatr Child Health. 2018 Feb;23(1):20-26. doi: 10.1093/pch/pxx125. Epub 2017 Dec 8.
Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy.
Johnson NE, Ekstrom AB, Campbell C, Hung M, Adams HR, Chen W, Luebbe E, Hilbert J, Moxley RT 3rd, Heatwole CR.
Dev Med Child Neurol. 2016 Jul;58(7):698-705. doi: 10.1111/dmcn.12948. Epub 2015 Oct 28.
Seeking a better landscape for therapy development in neuromuscular disorders.
Larkindale J, Porter JD.
Muscle Nerve. 2018 Jan;57(1):16-19. doi: 10.1002/mus.25961. Epub 2017 Sep 23.