P200 The UK myotonic dystrophy patient registry: empowering clinical research and patient voice with an effective translational research tool

TY - JOUR

T1 - P200 The UK myotonic dystrophy patient registry

T2 - empowering clinical research and patient voice with an effective translational research tool

AU - Lofra, R Muni

AU - Walker, H.

AU - Turner, C.

AU - Adcock, K.

AU - Ashley, E.

AU - Rogers, M.

AU - Orrell, R.

AU - Donachie, J.

AU - Monckton, D.

AU - Hamilton, M.

AU - Hewamadduma, C.

AU - Bowler, M.

AU - Sodhi, J.

AU - Marini-Bettolo, C.

PY - 2023/10

Y1 - 2023/10

N2 - The UK Myotonic Dystrophy Patient Registry is a patient self-enrolling online database collecting clinical and genetic information about myotonic dystrophy type 1 (DM1) and type 2 (DM2). The registry was established in May 2012 by Newcastle University and is supported by Muscular Dystrophy UK, Cure-DM and the Myotonic Dystrophy Support Group. The registry facilitates academic and clinical research, enables better characterisation and understanding of DM, and disseminates information relating to upcoming studies and research advancements to participants. The registry is used to capture longitudinal, self-reported data through an online portal available to patients and clinicians. Where specialised clinical or genetic information is available, the neuromuscular specialist involved in the patient's care can provide some additional data. The registry is a Core Member of the TREAT-NMD Global Registries Network for DM1, collecting the standardised dataset and contributing to global data enquiries. As of April 2023, there are 844 active patient registrations. For those reporting a clinical diagnosis, 95% have DM1 (of which 12% report a diagnosis of congenital DM) and 5% report DM2. Overall, 40% of patients have genetic confirmation of their condition. The registry has successfully assisted with recruitment to clinical trials and has supported over 30 research enquiries to date. These include anonymised data reports to industry, and academic research surveys into topics including COVID-19, dysphagia, pregnancy, patient preferences for future treatments and the patient/caregiver experience. The registry continues to be a versatile, cost-effective research tool to facilitate and advance a range of DM research. Additional work continues to be done to improve reporting of genetic information on the registry, and to overcome perceived boundaries to registration and participation.

AB - The UK Myotonic Dystrophy Patient Registry is a patient self-enrolling online database collecting clinical and genetic information about myotonic dystrophy type 1 (DM1) and type 2 (DM2). The registry was established in May 2012 by Newcastle University and is supported by Muscular Dystrophy UK, Cure-DM and the Myotonic Dystrophy Support Group. The registry facilitates academic and clinical research, enables better characterisation and understanding of DM, and disseminates information relating to upcoming studies and research advancements to participants. The registry is used to capture longitudinal, self-reported data through an online portal available to patients and clinicians. Where specialised clinical or genetic information is available, the neuromuscular specialist involved in the patient's care can provide some additional data. The registry is a Core Member of the TREAT-NMD Global Registries Network for DM1, collecting the standardised dataset and contributing to global data enquiries. As of April 2023, there are 844 active patient registrations. For those reporting a clinical diagnosis, 95% have DM1 (of which 12% report a diagnosis of congenital DM) and 5% report DM2. Overall, 40% of patients have genetic confirmation of their condition. The registry has successfully assisted with recruitment to clinical trials and has supported over 30 research enquiries to date. These include anonymised data reports to industry, and academic research surveys into topics including COVID-19, dysphagia, pregnancy, patient preferences for future treatments and the patient/caregiver experience. The registry continues to be a versatile, cost-effective research tool to facilitate and advance a range of DM research. Additional work continues to be done to improve reporting of genetic information on the registry, and to overcome perceived boundaries to registration and participation.

U2 - 10.1016/j.nmd.2023.07.309

DO - 10.1016/j.nmd.2023.07.309

M3 - Meeting abstract

SN - 0960-8966

VL - 33

SP - S144

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

ER -