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January 13, 2021Article

Association of Initial Maximal Motor Ability with Long-term Functional Outcome in Patients with COL6-related Dystrophies

View ORCID ProfileDaniel Natera-de Benito, View ORCID ProfileA. Reghan Foley, Cristina Domínguez-González, View ORCID ProfileCarlos Ortez, Minal Jain, Aron Mebrahtu, Sandra Donkervoort, Ying Hu, Margaret Fink, Pomi Yun, Tracy Ogata, Julita Medina, Meritxell Vigo, Katherine G. Meilleur, Meganne E. Leach, Jahannaz Dastgir, Jordi Díaz-Manera, View ORCID ProfileLaura Carrera-García, View ORCID ProfileJessica Expósito-Escudero, Macarena Alarcon, View ORCID ProfileDaniel Cuadras, Elena Montiel-Morillo, José C Milisenda, Raul Dominguez-Rubio, View ORCID ProfileMontse Olivé, View ORCID ProfileJaume Colomer, View ORCID ProfileCristina Jou, View ORCID ProfileCecilia Jimenez-Mallebrera, View ORCID ProfileCarsten G. Bönnemann, View ORCID ProfileAndres Nascimento
First published January 13, 2021, DOI: https://doi.org/10.1212/WNL.0000000000011499
Daniel Natera-de Benito
1Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain
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  • ORCID record for Daniel Natera-de Benito
A. Reghan Foley
2Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
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  • ORCID record for A. Reghan Foley
Cristina Domínguez-González
3Department of Neurology, Hospital Universitario 12 de Octubre. Research Institute (imas12). Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
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Carlos Ortez
1Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain
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Minal Jain
4Rehabilitation Medicine Department, Clinical Research Center, National Institutes of Health, Bethesda, MD, USA
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Aron Mebrahtu
4Rehabilitation Medicine Department, Clinical Research Center, National Institutes of Health, Bethesda, MD, USA
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Sandra Donkervoort
2Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
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Ying Hu
2Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
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Margaret Fink
2Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
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Pomi Yun
2Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
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Tracy Ogata
2Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
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Julita Medina
5Department of Rehabilitation and Physical Medicine, Hospital Sant Joan de Deu, Barcelona, Spain
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Meritxell Vigo
5Department of Rehabilitation and Physical Medicine, Hospital Sant Joan de Deu, Barcelona, Spain
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Katherine G. Meilleur
6Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA
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Meganne E. Leach
2Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
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Jahannaz Dastgir
2Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
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Jordi Díaz-Manera
7Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER), Barcelona, Spain
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Laura Carrera-García
1Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain
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Jessica Expósito-Escudero
1Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain
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Macarena Alarcon
1Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain
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Daniel Cuadras
8Statistics Department, Fundació Sant Joan de Déu, Barcelona, Spain
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Elena Montiel-Morillo
3Department of Neurology, Hospital Universitario 12 de Octubre. Research Institute (imas12). Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
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José C Milisenda
9Department of Internal Medicine, Hospital Clinic, Universitat de Barcelona (UB) and CIBERER, Villarroel 170, 08036, Barcelona, Spain
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Raul Dominguez-Rubio
10Neuropathology Unit, Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain
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Montse Olivé
10Neuropathology Unit, Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain
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Jaume Colomer
1Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain
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Cristina Jou
1Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain
11Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain
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Cecilia Jimenez-Mallebrera
1Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain
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Carsten G. Bönnemann
2Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
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Andres Nascimento
1Neuromuscular Unit, Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain
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Full PDF
Citation
Association of Initial Maximal Motor Ability with Long-term Functional Outcome in Patients with COL6-related Dystrophies
Daniel Natera-de Benito, A. Reghan Foley, Cristina Domínguez-González, Carlos Ortez, Minal Jain, Aron Mebrahtu, Sandra Donkervoort, Ying Hu, Margaret Fink, Pomi Yun, Tracy Ogata, Julita Medina, Meritxell Vigo, Katherine G. Meilleur, Meganne E. Leach, Jahannaz Dastgir, Jordi Díaz-Manera, Laura Carrera-García, Jessica Expósito-Escudero, Macarena Alarcon, Daniel Cuadras, Elena Montiel-Morillo, José C Milisenda, Raul Dominguez-Rubio, Montse Olivé, Jaume Colomer, Cristina Jou, Cecilia Jimenez-Mallebrera, Carsten G. Bönnemann, Andres Nascimento
Neurology Jan 2021, 10.1212/WNL.0000000000011499; DOI: 10.1212/WNL.0000000000011499

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Abstract

Objective: To accurately categorize the phenotypes of individuals with collagen VI-related dystrophies (COL6-RDs) during the first years of life in order to predict long-term motor function and pulmonary function, provide phenotype-specific anticipatory care and improve clinical trial readiness.

Methods: This retrospective, multicenter, international study analyzed the relationship of long-term motor and pulmonary function with the initial maximal motor ability achieved in individuals with COL6-RD.

Results: We studied 119 patients with COL6-RD from Spain (n = 54) and the US (n = 65). The early maximal motor milestones of (1.) ability to rise from the floor unassisted and (2.) the ability to climb four steps without holding onto the railing demonstrated reliability in distinguishing between three COL6-RD phenotypic subgroups: (1.) Ullrich congenital muscular dystrophy, (2.) Intermediate COL6-RD and (3.) Bethlem myopathy. Long-term motor function and pulmonary function are strongly correlated with the maximal motor ability achieved during the first years of life. Maximal motor capacity can predict other disease relevant events such as the age at loss of ambulation and the need for the initiation of nocturnal noninvasive ventilation.

Conclusion: This work proposes a prospective phenotypic classification for COL6-RDs which will enable an accurate prediction of a patient’s COL6-RD phenotype during the first years of life. The ability to establish a patient’s COL6-RD phenotypic classification early will enable a more accurate prognosis of future motor and pulmonary function thus improving anticipatory clinical care, and it will be instrumental in aiding the design of future clinical trials by allowing for early stratification of trial cohorts.

Footnotes

  • ↵* These authors contributed equally to the manuscript

  • Received August 24, 2020.
  • Accepted in final form November 23, 2020.
  • © 2019 American Academy of Neurology

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