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      An overview of the Cure SMA membership database: Highlights of key demographic and clinical characteristics of SMA members

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          Abstract

          Background:

          The Cure SMA database is one of the largest patient reported databases for people affected with SMA.

          Objective:

          The purpose of this study was to examine a subset of affected SMA persons with types I, II, and III from a patient reported database.

          Methods:

          Individuals with SMA were selected from the database using a date of first contact to Cure SMA between 2010 and 2016. Data analyzed included age at diagnosis, number of weeks from SMA diagnosis to contacting Cure SMA, and geographic distribution of individuals.

          Results:

          A total of 1,966 individuals with SMA were included in the analysis. Of these individuals, 51.9% had type I, 32.3% had type II, and 15.8% had type III. The average age of diagnosis for type I patients was 5.2 months, 22.1 months for type II, and 97.8 months for type III. From published incidence, about 59.0% of affected individuals in the US are registered in the Cure SMA database.

          Conclusions:

          The Cure SMA database is a unique and robust source of patient reported data that informs on the burden of illness and supports the development of new therapeutic modalities.

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          Most cited references11

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          A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients.

          We analyzed clinical data of 569 patients in two combined series with childhood and juvenile proximal SMA. This cohort included only patients who had achieved the ability to sit unaided (type II and III SMA). The survival rate among 240 type II patients (who sat but never walked) was 98.5% at 5 years and 68.5% at 25 years. SMA III (n = 329) (those who walked and had symptoms before age 30 years) was subdivided into those with an onset before and after age 3 years (type IIIa, n = 195; SMA IIIb, n = 134). In patients with SMA III, life expectancy is not significantly less than a normal population. The probabilities of being able to walk at 10 years after onset was 70.3%, and at 40 years, 22.0% in SMA IIa. For SMA IIIb, 96.7% were walking 10 years after onset and 58.7% at 40 years. The subdivision of type III SMA was justified by the probability of being ambulatory depending on age at onset; the prognosis differed for those with onset before or after age 3 years. The data provide a reliable basis of the natural history of proximal SMA and support a classification system that is based primarily on age at onset and the achievement of motor milestones.
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            Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year.

            To characterize the short-term course of spinal muscular atrophy (SMA) in a genetically and clinically well-defined cohort of patients with SMA.
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              Genetic risk assessment in carrier testing for spinal muscular atrophy.

              As evidenced by the complete absence of a functionally critical sequence in exon 7, approximately 94% of individuals with clinically typical spinal muscular atrophy (SMA) lack both copies of the SMN1 gene at 5q13. Hence most carriers have only one copy of SMN1. Combining linkage and dosage analyses for SMN1, we observed unaffected individuals who have two copies of SMN1 on one chromosome 5 and zero copies of SMN1 on the other chromosome 5. By dosage analysis alone, such individuals, as well as carriers of non-deletion disease alleles, are indistinguishable from non-carrier individuals. We report that approximately 7% of unaffected individuals without a family history of SMA have three or four copies of SMN1, implying a higher frequency of chromosomes with two copies of SMN1 than previously reported. We present updated calculations for disease and non-disease allele frequencies and we describe how these frequencies can be used for genetic risk assessment in carrier testing for SMA. Copyright 2002 Wiley-Liss, Inc.
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                Author and article information

                Journal
                J Neuromuscul Dis
                J Neuromuscul Dis
                JND
                Journal of Neuromuscular Diseases
                IOS Press (Nieuwe Hemweg 6B, 1013 BG Amsterdam, The Netherlands )
                2214-3599
                2214-3602
                26 March 2018
                29 May 2018
                2018
                : 5
                : 2
                : 167-176
                Affiliations
                [a ]Cure SMA, Elk Grove Village, IL, USA
                [b ]Epidemiology Associates LLC , Chapel Hill, NC, USA
                [c ]Johns Hopkins Hospital , Baltimore, MD, USA
                [d ]Biogen, Cambridge, MA, USA
                [e ]The Ohio State University , Columbus, OH, USA
                [f ]University of Wisconsin , Madison, WI, USA
                Author notes
                [* ]Correspondence to: Lisa Belter, 925 Busse Road, Elk Grove Village, IL, 60007, USA. Tel.: +1 847 709 6344; E-mail: lisa@ 123456curesma.org .
                Article
                JND170292
                10.3233/JND-170292
                6004903
                29614694
                537a2dcc-f980-4b86-b125-68891605c211
                © 2018 – IOS Press and the authors. All rights reserved

                This is an open access article distributed under the terms of the Creative Commons Attribution Non-Commercial (CC BY-NC 4.0) License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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