Burden of disease of spinal muscular atrophy linked to chromosome 5q (5q-SMA) in Colombia

ABSTRACT

Objective

This article estimates the disease burden of 5q-SMA in Colombia by using the disability-adjusted life years (DALYs) metric.

Methods

Epidemiological data were obtained from local databases and medical literature and were adjusted in the DisMod II tool. DALYs were obtained by adding years of life lost due to premature death (YLL) and years lived with disability (YLD).

Results

The modeled prevalence of 5q-SMA in Colombia was 0.74 per 100,000 population. The fatality rate for all types was 14.1%. The disease burden of 5q-SMA was estimated at 4,421 DALYs (8.6 DALYs/100,000), corresponding to 4,214 (95.3%) YLLs and 207 (4.7%) YLDs. Most of the DALYs were accounted in the 2–17 age group. Of the total burden, 78% correspond to SMA type 1, 18% to type 2, and 4% to type 3.

Conclusions

Although 5q-SMA is a rare disease, it is linked to a significant disease burden due to premature mortality and severe sequelae. The estimates shown in this article are important inputs to inform public policy decisions on how to ensure adequate health service provision for patients with 5q-SMA.

KEYWORDS:

• Burden of disease
• Colombia
• disability-adjusted life years (DALYs)
• disability weights
• spinal muscular atrophy linked to chromosome 5q

Article highlights

• The total number of DALYs linked to 5q-SMA in Colombia is 4,421, of which, 95.3% were attributed to years of life lost due to premature death.

• SMA type 1 represents 78.% of the total estimated DALYs, followed by SMA type 2 with 18%.

• This is the first study in Colombia to estimate the burden of disease, measured as the impact on the morbidity and mortality of the population.

• This study provides estimates that can be used as the starting point for evaluating the impact that pharmacological and non-pharmacological interventions and treatments will have in the near future in Colombia.

• Despite its low prevalence, 5q-SMA is associated with a significant disease burden due to premature mortality and severe sequelae.

Declaration of interest

L Prieto-Pinto is an employee of Roche and received no remuneration for research or authorship of this manuscript. F Suarez-Obando reported financial support from PTC Therapeutics, Roche and Novartis for conferences and academic meetings. BO reported a relationship with Hospital San Vicente Foundation in the Research division for grants or contracts. Also, B Ortiz reported financial support from Biogen to attend meetings or travel for Spinal Muscular Atrophy discussions, performed leadership activities or fiduciary role with the Colombian Society of Pediatrics, the Institute for Health Technology Assessment and other boards, societies, committees or advocacy groups. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Author contributions

All authors contributed to the study conception and design. Y Gil-Rojas and D Amaya Granados contributed to the acquisition, analysis, and interpretation of data and drafting of the manuscript. Statistical analysis were performed by Y Gil-Rojas. F Suarez-Obando and B Ortiz contributed data or analysis tools and critical revision of the manuscript. L Prieto-Pinto contributed to collect the data, critical revision of the manuscript and supervision. F Hernandez contributed to the critical revision of the manuscript, obtaining funding, administrative, technical, or logistic support and supervision. D Samaca Samaca contributed to collect the data and the critical revision of the manuscript. All authors agreed with the final version of the manuscript to be published.

Previous presentation

A poster was presented at the 3rd International Scientific Congress on Spinal Muscular Atrophy – SMA held October 21–23, 2022, in Barcelona, Spain

SUPPLEMENTARY MATERIAL

Supplemental data for this article can be accessed online at https://doi.org/10.1080/14737167.2023.2206569

Additional information

Funding

This study was funded by Roche Colombia.