Meta-Analysis of Latin America’s Metrics for Duchenne Muscular Dystrophy Available Therapies
This protocol is extracted from research article:
Theragnosis for Duchenne Muscular Dystrophy
Front Pharmacol, Jun 3, 2021; DOI: 10.3389/fphar.2021.648390

In order to determine the frequency of candidate patients for the available therapies for each Latin American country, we performed a systematic review of the literature regarding molecular diagnosis of dystrophinopathies.

The study was carried out following the “Preferred Reporting Items for Systematic reviews and Meta-Analyses” (PRISMA) guidelines (Page et al., 2021). Figure 1 summarizes the search and selection process. The search was conducted in PubMed from the National Library of Medicine (National Center for Biotechnology Information—NCBI) and in Google Scholar from Google (White, 2020). The following keywords were used to browse in both search engines [(Duchenne muscular dystrophy) OR (DMD) OR (Dystrophinopathies)] AND (Country name/demonym) AND [(mutation) OR (molecular diagnosis)]. We applied no publication date nor language restrictions. The last search was performed on November 30, 2020.

Flow chart of search and selection algorithm of Latin American reports for the meta-analysis.

Three authors (LL, MC, and CM) independently carried out the study selection from the retrieved manuscripts. Firstly, potentially eligible reports were identified by assessing their title and abstract. At this stage, we included cohort studies and thesis conducting molecular diagnosis or mutational screening on patients with clinical presumptive diagnosis of dystrophinopathies. Manuscripts regarding basic research, case reports and congress communications were excluded.

The second eligibility step included the review of the full text. We excluded reports implementing multiplex-PCR, given that the exact deletion borders might not have been determined and that it resembles an underestimation of the amount of deletions. Moreover, so as to calculate the frequencies using a common criteria, we only considered manuscripts including the results of each individual or that had their results submitted on public repositories or databases such as the Leiden open variation database (LOVD) (https://www.lovd.nl/).

Once we had the selected reports, we manually extracted the following information: the employed molecular techniques, total amount of analyzed patients, the amount of individuals with genetic confirmation of dystrophinopathy, unrelated patients carrying deletions, unrelated individuals with deletions amenable by exon skipping of exon 45, 51 or 53, unrelated boys carrying small variants in DMD and unrelated patients with nonsense variants.

Additionally, so as to compare the calculated Latin American frequencies with the well-known and highly regarded frequencies from Europe and the United States, we conducted the screening described above with minor modifications for Spain, Italy, Portugal and the United States. We selected the above mentioned European countries on the basis of the most relevant migratory waves of the Latin American history. Granted that these four countries have been providing state of the art molecular diagnosis for dystrophinopathies for many years, the amount of available reports considerably exceeded the Latin American ones. Therefore, we decided to restrict the publication date (2005–2020) and select only one report per country, opting for the latest and/or the one with the largest cohort with available individual data.

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