Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification

The broad clinical spectrum of myotonic dystrophy type 1 (DM1) creates particular challenges for both medical care and design of clinical trials. Clinical onset spans a continuum from birth to late adulthood, with symptoms that are highly variable in both severity and nature of the affected organ sy...

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Veröffentlicht in:	Revue neurologique Jg. 172; H. 10; S. 572 - 580
Hauptverfasser:	De Antonio, M., Dogan, C., Hamroun, D., Mati, M., Zerrouki, S., Eymard, B., Katsahian, S., Bassez, G.
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	France Elsevier Masson SAS 01.10.2016
Schlagworte:	Adolescent Adult Age of Onset Aged Child Child, Preschool Clinical trials Cohort Studies Disease classification Disease Management Face - pathology Female France Healthcare Humans Infant Infant, Newborn Male Medical care Middle Aged Muscle Strength Myotonic dystrophy Myotonic Dystrophy - classification Myotonic Dystrophy - physiopathology Myotonic Dystrophy - therapy Myotonic dystrophy type 1 Rare diseases Registries Registry Steinert disease Terminology as Topic Trinucleotide Repeats Young Adult Rare diseases Myotonic dystrophy Myotonic dystrophy type 1 Medical care Clinical trials Healthcare Steinert disease Registry Disease classification
ISSN:	0035-3787
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Abstract	The broad clinical spectrum of myotonic dystrophy type 1 (DM1) creates particular challenges for both medical care and design of clinical trials. Clinical onset spans a continuum from birth to late adulthood, with symptoms that are highly variable in both severity and nature of the affected organ systems. In the literature, this complex phenotype is divided into three grades (mild, classic, and severe) and four or five main clinical categories (congenital, infantile/juvenile, adult-onset and late-onset forms), according to symptom severity and age of onset, respectively. However, these classifications are still under discussion with no consensus thus far. While some specific clinical features have been primarily reported in some forms of the disease, there are no clear distinctions. As a consequence, no modifications in the management of healthcare or the design of clinical studies have been proposed based on the clinical form of DM1. The present study has used the DM-Scope registry to assess, in a large cohort of DM1 patients, the robustness of a classification divided into five clinical forms. Our main aim was to describe the disease spectrum and investigate features of each clinical form. The five subtypes were compared by distribution of CTG expansion size, and the occurrence and onset of the main symptoms of DM1. Analyses validated the relevance of a five-grade model for DM1 classification. Patients were classified as: congenital (n=93, 4.5%); infantile (n=303, 14.8%); juvenile (n=628, 30.7%); adult (n=694, 34.0%); and late-onset (n=326, 15.9%). Our data show that the assumption of a continuum from congenital to the late-onset form is valid, and also highlights disease features specific to individual clinical forms of DM1 in terms of symptom occurrence and chronology throughout the disease course. These results support the use of the five-grade model for disease classification, and the distinct clinical profiles suggest that age of onset and clinical form may be key criteria in the design of clinical trials when considering DM1 health management and research.
AbstractList	The broad clinical spectrum of myotonic dystrophy type 1 (DM1) creates particular challenges for both medical care and design of clinical trials. Clinical onset spans a continuum from birth to late adulthood, with symptoms that are highly variable in both severity and nature of the affected organ systems. In the literature, this complex phenotype is divided into three grades (mild, classic, and severe) and four or five main clinical categories (congenital, infantile/juvenile, adult-onset and late-onset forms), according to symptom severity and age of onset, respectively. However, these classifications are still under discussion with no consensus thus far. While some specific clinical features have been primarily reported in some forms of the disease, there are no clear distinctions. As a consequence, no modifications in the management of healthcare or the design of clinical studies have been proposed based on the clinical form of DM1. The present study has used the DM-Scope registry to assess, in a large cohort of DM1 patients, the robustness of a classification divided into five clinical forms. Our main aim was to describe the disease spectrum and investigate features of each clinical form. The five subtypes were compared by distribution of CTG expansion size, and the occurrence and onset of the main symptoms of DM1. Analyses validated the relevance of a five-grade model for DM1 classification. Patients were classified as: congenital (n=93, 4.5%); infantile (n=303, 14.8%); juvenile (n=628, 30.7%); adult (n=694, 34.0%); and late-onset (n=326, 15.9%). Our data show that the assumption of a continuum from congenital to the late-onset form is valid, and also highlights disease features specific to individual clinical forms of DM1 in terms of symptom occurrence and chronology throughout the disease course. These results support the use of the five-grade model for disease classification, and the distinct clinical profiles suggest that age of onset and clinical form may be key criteria in the design of clinical trials when considering DM1 health management and research. The broad clinical spectrum of myotonic dystrophy type 1 (DM1) creates particular challenges for both medical care and design of clinical trials. Clinical onset spans a continuum from birth to late adulthood, with symptoms that are highly variable in both severity and nature of the affected organ systems. In the literature, this complex phenotype is divided into three grades (mild, classic, and severe) and four or five main clinical categories (congenital, infantile/juvenile, adult-onset and late-onset forms), according to symptom severity and age of onset, respectively. However, these classifications are still under discussion with no consensus thus far. While some specific clinical features have been primarily reported in some forms of the disease, there are no clear distinctions. As a consequence, no modifications in the management of healthcare or the design of clinical studies have been proposed based on the clinical form of DM1. The present study has used the DM-Scope registry to assess, in a large cohort of DM1 patients, the robustness of a classification divided into five clinical forms. Our main aim was to describe the disease spectrum and investigate features of each clinical form. The five subtypes were compared by distribution of CTG expansion size, and the occurrence and onset of the main symptoms of DM1. Analyses validated the relevance of a five-grade model for DM1 classification. Patients were classified as: congenital (n=93, 4.5%); infantile (n=303, 14.8%); juvenile (n=628, 30.7%); adult (n=694, 34.0%); and late-onset (n=326, 15.9%). Our data show that the assumption of a continuum from congenital to the late-onset form is valid, and also highlights disease features specific to individual clinical forms of DM1 in terms of symptom occurrence and chronology throughout the disease course. These results support the use of the five-grade model for disease classification, and the distinct clinical profiles suggest that age of onset and clinical form may be key criteria in the design of clinical trials when considering DM1 health management and research.The broad clinical spectrum of myotonic dystrophy type 1 (DM1) creates particular challenges for both medical care and design of clinical trials. Clinical onset spans a continuum from birth to late adulthood, with symptoms that are highly variable in both severity and nature of the affected organ systems. In the literature, this complex phenotype is divided into three grades (mild, classic, and severe) and four or five main clinical categories (congenital, infantile/juvenile, adult-onset and late-onset forms), according to symptom severity and age of onset, respectively. However, these classifications are still under discussion with no consensus thus far. While some specific clinical features have been primarily reported in some forms of the disease, there are no clear distinctions. As a consequence, no modifications in the management of healthcare or the design of clinical studies have been proposed based on the clinical form of DM1. The present study has used the DM-Scope registry to assess, in a large cohort of DM1 patients, the robustness of a classification divided into five clinical forms. Our main aim was to describe the disease spectrum and investigate features of each clinical form. The five subtypes were compared by distribution of CTG expansion size, and the occurrence and onset of the main symptoms of DM1. Analyses validated the relevance of a five-grade model for DM1 classification. Patients were classified as: congenital (n=93, 4.5%); infantile (n=303, 14.8%); juvenile (n=628, 30.7%); adult (n=694, 34.0%); and late-onset (n=326, 15.9%). Our data show that the assumption of a continuum from congenital to the late-onset form is valid, and also highlights disease features specific to individual clinical forms of DM1 in terms of symptom occurrence and chronology throughout the disease course. These results support the use of the five-grade model for disease classification, and the distinct clinical profiles suggest that age of onset and clinical form may be key criteria in the design of clinical trials when considering DM1 health management and research.
Author	Dogan, C. Hamroun, D. Zerrouki, S. Eymard, B. Katsahian, S. Bassez, G. Mati, M. De Antonio, M.
Author_xml	– sequence: 1 givenname: M. surname: De Antonio fullname: De Antonio, M. organization: Centre de référence maladies neuromusculaires, CHU Henri-Mondor, 51, avenue du Maréchal-de-Lattre-de-Tassigny, 94010 Créteil, France – sequence: 2 givenname: C. surname: Dogan fullname: Dogan, C. organization: Centre de référence maladies neuromusculaires, CHU Henri-Mondor, 51, avenue du Maréchal-de-Lattre-de-Tassigny, 94010 Créteil, France – sequence: 3 givenname: D. surname: Hamroun fullname: Hamroun, D. organization: Institut universitaire de recherche clinique, CHU de Montpellier, 191, avenue du Doyen-Gaston-Giraud, 34090 Montpellier, France – sequence: 4 givenname: M. surname: Mati fullname: Mati, M. organization: Centre de référence maladies neuromusculaires, CHU Henri-Mondor, 51, avenue du Maréchal-de-Lattre-de-Tassigny, 94010 Créteil, France – sequence: 5 givenname: S. surname: Zerrouki fullname: Zerrouki, S. organization: Centre de référence maladies neuromusculaires, CHU Henri-Mondor, 51, avenue du Maréchal-de-Lattre-de-Tassigny, 94010 Créteil, France – sequence: 6 givenname: B. surname: Eymard fullname: Eymard, B. organization: Centre de référence maladies neuromusculaires Paris-Est, institut de myologie, hôpital Pitié-Salpêtrière, 47-83, boulevard de l’Hôpital, 75013 Paris, France – sequence: 7 givenname: S. surname: Katsahian fullname: Katsahian, S. organization: Inserm UMRS1138, team22, centre de recherche des cordeliers, 15, rue de l’École de Médecine, 75006 Paris, France – sequence: 8 givenname: G. surname: Bassez fullname: Bassez, G. email: guillaume.bassez@aphp.fr organization: Centre de référence maladies neuromusculaires, CHU Henri-Mondor, 51, avenue du Maréchal-de-Lattre-de-Tassigny, 94010 Créteil, France
BackLink	https://www.ncbi.nlm.nih.gov/pubmed/27665240$$D View this record in MEDLINE/PubMed
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Snippet	The broad clinical spectrum of myotonic dystrophy type 1 (DM1) creates particular challenges for both medical care and design of clinical trials. Clinical...
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SubjectTerms	Adolescent Adult Age of Onset Aged Child Child, Preschool Clinical trials Cohort Studies Disease classification Disease Management Face - pathology Female France Healthcare Humans Infant Infant, Newborn Male Medical care Middle Aged Muscle Strength Myotonic dystrophy Myotonic Dystrophy - classification Myotonic Dystrophy - physiopathology Myotonic Dystrophy - therapy Myotonic dystrophy type 1 Rare diseases Registries Registry Steinert disease Terminology as Topic Trinucleotide Repeats Young Adult
Title	Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification
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