Identification and outcomes of clinical phenotypes in amyotrophic lateral sclerosis/motor neuron disease: Australian National Motor Neuron Disease observational cohort

Paul Talman; Thi Duong; Steve Vucic; Susan Mathers; Svetha Venkatesh; Robert Henderson; Dominic Rowe; David Schultz; Robert Edis; Merrilee Needham; Richard Macdonnell; Pamela McCombe; Carol Birks; Matthew Kiernan

doi:10.1136/bmjopen-2016-012054

Identification and outcomes of clinical phenotypes in amyotrophic lateral sclerosis/motor neuron disease: Australian National Motor Neuron Disease observational cohort

Paul Talman, Thi Duong, Steve Vucic, Susan Mathers, Svetha Venkatesh, Robert Henderson, Dominic Rowe, David Schultz, Robert Edis, Merrilee Needham, Richard Macdonnell, Pamela McCombe, Carol Birks, Matthew Kiernan

College of Medicine and Public Health

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Abstract

Objective: To capture the clinical patterns, timing of key milestones and survival of patients presenting with amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) within Australia. Methods: Data were prospectively collected and were timed to normal clinical assessments. An initial registration clinical report form (CRF) and subsequent ongoing assessment CRFs were submitted with a completion CRF at the time of death. Design: Prospective observational cohort study. Participants: 1834 patients with a diagnosis of ALS/MND were registered and followed in ALS/MND clinics between 2005 and 2015. Results: 5 major clinical phenotypes were determined and included ALS bulbar onset, ALS cervical onset and ALS lumbar onset, flail arm and leg and primary lateral sclerosis (PLS). Of the 1834 registered patients, 1677 (90%) could be allocated a clinical phenotype. ALS bulbar onset had a significantly lower length of survival when compared with all other clinical phenotypes (p<0.004). There were delays in the median time to diagnosis of up to 12 months for the ALS phenotypes, 18 months for the flail limb phenotypes and 19 months for PLS. Riluzole treatment was started in 78-85% of cases. The median delays in initiating riluzole therapy, from symptom onset, varied from 10 to 12 months in the ALS phenotypes and 15-18 months in the flail limb phenotypes. Percutaneous endoscopic gastrostomy was implemented in 8-36% of ALS phenotypes and 2-9% of the flail phenotypes. Non-invasive ventilation was started in 16-22% of ALS phenotypes and 21-29% of flail phenotypes. Conclusions: The establishment of a cohort registry for ALS/MND is able to determine clinical phenotypes, survival and monitor time to key milestones in disease progression. It is intended to expand the cohort to a more population-based registry using opt-out methodology and facilitate data linkage to other national registries.

Original language	English
Article number	e012054
Pages (from-to)	e012054
Journal	BMJ Open
Volume	6
Issue number	9
DOIs	https://doi.org/10.1136/bmjopen-2016-012054
Publication status	Published - 30 Sept 2016

Bibliographical note

Copyright information: Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

Keywords

clinical phenotypes
Australian National Motor Neuron Disease
identification and outcomes
amyotrophic lateral sclerosis/motor neuron disease

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Talman, P., Duong, T., Vucic, S., Mathers, S., Venkatesh, S., Henderson, R., Rowe, D., Schultz, D., Edis, R., Needham, M., Macdonnell, R., McCombe, P., Birks, C., & Kiernan, M. (2016). Identification and outcomes of clinical phenotypes in amyotrophic lateral sclerosis/motor neuron disease: Australian National Motor Neuron Disease observational cohort. BMJ Open, 6(9), e012054. Article e012054. https://doi.org/10.1136/bmjopen-2016-012054

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title = "Identification and outcomes of clinical phenotypes in amyotrophic lateral sclerosis/motor neuron disease: Australian National Motor Neuron Disease observational cohort",

abstract = "Objective: To capture the clinical patterns, timing of key milestones and survival of patients presenting with amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) within Australia. Methods: Data were prospectively collected and were timed to normal clinical assessments. An initial registration clinical report form (CRF) and subsequent ongoing assessment CRFs were submitted with a completion CRF at the time of death. Design: Prospective observational cohort study. Participants: 1834 patients with a diagnosis of ALS/MND were registered and followed in ALS/MND clinics between 2005 and 2015. Results: 5 major clinical phenotypes were determined and included ALS bulbar onset, ALS cervical onset and ALS lumbar onset, flail arm and leg and primary lateral sclerosis (PLS). Of the 1834 registered patients, 1677 (90%) could be allocated a clinical phenotype. ALS bulbar onset had a significantly lower length of survival when compared with all other clinical phenotypes (p<0.004). There were delays in the median time to diagnosis of up to 12 months for the ALS phenotypes, 18 months for the flail limb phenotypes and 19 months for PLS. Riluzole treatment was started in 78-85% of cases. The median delays in initiating riluzole therapy, from symptom onset, varied from 10 to 12 months in the ALS phenotypes and 15-18 months in the flail limb phenotypes. Percutaneous endoscopic gastrostomy was implemented in 8-36% of ALS phenotypes and 2-9% of the flail phenotypes. Non-invasive ventilation was started in 16-22% of ALS phenotypes and 21-29% of flail phenotypes. Conclusions: The establishment of a cohort registry for ALS/MND is able to determine clinical phenotypes, survival and monitor time to key milestones in disease progression. It is intended to expand the cohort to a more population-based registry using opt-out methodology and facilitate data linkage to other national registries.",

keywords = "clinical phenotypes, Australian National Motor Neuron Disease, identification and outcomes, amyotrophic lateral sclerosis/motor neuron disease",

author = "Paul Talman and Thi Duong and Steve Vucic and Susan Mathers and Svetha Venkatesh and Robert Henderson and Dominic Rowe and David Schultz and Robert Edis and Merrilee Needham and Richard Macdonnell and Pamela McCombe and Carol Birks and Matthew Kiernan",

note = " Copyright information: Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ ",

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doi = "10.1136/bmjopen-2016-012054",

language = "English",

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Talman, P, Duong, T, Vucic, S, Mathers, S, Venkatesh, S, Henderson, R, Rowe, D, Schultz, D, Edis, R, Needham, M, Macdonnell, R, McCombe, P, Birks, C & Kiernan, M 2016, 'Identification and outcomes of clinical phenotypes in amyotrophic lateral sclerosis/motor neuron disease: Australian National Motor Neuron Disease observational cohort', BMJ Open, vol. 6, no. 9, e012054, pp. e012054. https://doi.org/10.1136/bmjopen-2016-012054

TY - JOUR

T1 - Identification and outcomes of clinical phenotypes in amyotrophic lateral sclerosis/motor neuron disease

T2 - Australian National Motor Neuron Disease observational cohort

AU - Talman, Paul

AU - Duong, Thi

AU - Vucic, Steve

AU - Mathers, Susan

AU - Venkatesh, Svetha

AU - Henderson, Robert

AU - Rowe, Dominic

AU - Schultz, David

AU - Edis, Robert

AU - Needham, Merrilee

AU - Macdonnell, Richard

AU - McCombe, Pamela

AU - Birks, Carol

AU - Kiernan, Matthew

N1 - Copyright information: Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

PY - 2016/9/30

Y1 - 2016/9/30

N2 - Objective: To capture the clinical patterns, timing of key milestones and survival of patients presenting with amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) within Australia. Methods: Data were prospectively collected and were timed to normal clinical assessments. An initial registration clinical report form (CRF) and subsequent ongoing assessment CRFs were submitted with a completion CRF at the time of death. Design: Prospective observational cohort study. Participants: 1834 patients with a diagnosis of ALS/MND were registered and followed in ALS/MND clinics between 2005 and 2015. Results: 5 major clinical phenotypes were determined and included ALS bulbar onset, ALS cervical onset and ALS lumbar onset, flail arm and leg and primary lateral sclerosis (PLS). Of the 1834 registered patients, 1677 (90%) could be allocated a clinical phenotype. ALS bulbar onset had a significantly lower length of survival when compared with all other clinical phenotypes (p<0.004). There were delays in the median time to diagnosis of up to 12 months for the ALS phenotypes, 18 months for the flail limb phenotypes and 19 months for PLS. Riluzole treatment was started in 78-85% of cases. The median delays in initiating riluzole therapy, from symptom onset, varied from 10 to 12 months in the ALS phenotypes and 15-18 months in the flail limb phenotypes. Percutaneous endoscopic gastrostomy was implemented in 8-36% of ALS phenotypes and 2-9% of the flail phenotypes. Non-invasive ventilation was started in 16-22% of ALS phenotypes and 21-29% of flail phenotypes. Conclusions: The establishment of a cohort registry for ALS/MND is able to determine clinical phenotypes, survival and monitor time to key milestones in disease progression. It is intended to expand the cohort to a more population-based registry using opt-out methodology and facilitate data linkage to other national registries.

AB - Objective: To capture the clinical patterns, timing of key milestones and survival of patients presenting with amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) within Australia. Methods: Data were prospectively collected and were timed to normal clinical assessments. An initial registration clinical report form (CRF) and subsequent ongoing assessment CRFs were submitted with a completion CRF at the time of death. Design: Prospective observational cohort study. Participants: 1834 patients with a diagnosis of ALS/MND were registered and followed in ALS/MND clinics between 2005 and 2015. Results: 5 major clinical phenotypes were determined and included ALS bulbar onset, ALS cervical onset and ALS lumbar onset, flail arm and leg and primary lateral sclerosis (PLS). Of the 1834 registered patients, 1677 (90%) could be allocated a clinical phenotype. ALS bulbar onset had a significantly lower length of survival when compared with all other clinical phenotypes (p<0.004). There were delays in the median time to diagnosis of up to 12 months for the ALS phenotypes, 18 months for the flail limb phenotypes and 19 months for PLS. Riluzole treatment was started in 78-85% of cases. The median delays in initiating riluzole therapy, from symptom onset, varied from 10 to 12 months in the ALS phenotypes and 15-18 months in the flail limb phenotypes. Percutaneous endoscopic gastrostomy was implemented in 8-36% of ALS phenotypes and 2-9% of the flail phenotypes. Non-invasive ventilation was started in 16-22% of ALS phenotypes and 21-29% of flail phenotypes. Conclusions: The establishment of a cohort registry for ALS/MND is able to determine clinical phenotypes, survival and monitor time to key milestones in disease progression. It is intended to expand the cohort to a more population-based registry using opt-out methodology and facilitate data linkage to other national registries.

KW - clinical phenotypes

KW - Australian National Motor Neuron Disease

KW - identification and outcomes

KW - amyotrophic lateral sclerosis/motor neuron disease

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U2 - 10.1136/bmjopen-2016-012054

DO - 10.1136/bmjopen-2016-012054

M3 - Article

C2 - 27694488

AN - SCOPUS:85027385053

SN - 2044-6055

VL - 6

SP - e012054

JO - BMJ Open

JF - BMJ Open

IS - 9

M1 - e012054

ER -

Identification and outcomes of clinical phenotypes in amyotrophic lateral sclerosis/motor neuron disease: Australian National Motor Neuron Disease observational cohort

Abstract

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Keywords

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