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Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related
Daniel Natera-de Benito1, A Reghan Foley2, Cristina Domínguez-González2
1From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), 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); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain. dnatera@sjdhospitalbarcelona.org.
Insights
Early motor milestones in collagen VI-related dystrophies (COL6-RD) reliably predict long-term outcomes. This classification aids in anticipatory care and clinical trial readiness for COL6-RD patients.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Collagen VI-related dystrophies (COL6-RDs) are a group of inherited muscle disorders.
- Accurate early phenotyping is crucial for predicting disease progression and managing patient care.
Purpose of the Study:
- To establish a reliable method for categorizing COL6-RD phenotypes in early childhood.
- To predict long-term motor and pulmonary function based on early developmental milestones.
- To enhance clinical trial readiness through early patient stratification.
Main Methods:
- A retrospective, international, multicenter study involving 119 patients with COL6-RD.
- Analysis of the relationship between initial maximal motor ability and long-term functional outcomes.
- Identification of key motor milestones for phenotypic classification.
Main Results:
- Early motor milestones, such as rising from the floor unassisted and climbing stairs, reliably distinguished between Ullrich congenital muscular dystrophy, intermediate COL6-RD, and Bethlem myopathy.
- Maximal motor ability achieved in early life strongly correlates with long-term motor and pulmonary function.
- Early motor capacity predicts age of ambulation loss and need for noninvasive ventilation.
Conclusions:
- A prospective phenotypic classification for COL6-RDs based on early motor milestones is proposed.
- Early classification enables accurate prognosis of motor and pulmonary function, improving clinical care.
- This approach will facilitate the design of future clinical trials by enabling early cohort stratification.
Objective:
To accurately categorize the phenotypes of individuals with collagen VI-related dystrophies (COL6-RDs) during the first years of life to predict long-term motor function and pulmonary function, to provide phenotype-specific anticipatory care, and to 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 United States (n = 65). The early maximal motor milestones of ability to rise from the floor unassisted and ability to climb 4 steps without holding onto a railing demonstrated reliability in distinguishing between 3 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 that 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 early stratification of trial cohorts.
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