Amyotrophic Lateral Sclerosis (ALS) is a rare neurodegenerative disease affecting the brain and spinal cord's upper and lower motor neurons (1). The main characteristic of this disease consists of the progression of muscle paralysis in an irreversible manner, which reflects in motor neuron degeneration causing the patient's death due to respiratory blockage (2, 3). With its etiology still unknown, the diagnosis of ALS becomes complex and, in some cases, time-consuming (4, 5). ALS has no cure yet, there are only some palliative care and treatments that can slow the progression of the disease and increase patient lifespan (6, 7). It is estimated that the life expectancy of patients ranges from 2 to 5 years after the onset of symptoms (8), but there are reported cases that far exceed this period, such as that of the famous theoretical physicist Stephen William Hawking.

In terms of epidemiology, Longinetti and Fang (9) have stated that the incidence of ALS worldwide is between 0.6 and 3.8 per 100,000 people per year. The prevalence, meanwhile, is between 4.1 and 8.4 per 100,000 people. Although a determining factor for the disease cause has not yet been found, projections show that ALS cases worldwide will escalate from 222,801 in 2015 to 376,674 in 2040, representing a 69% increase (10). Population studies show a heterogeneous distribution of ALS worldwide, with varying incidence and prevalence rates, being highest in the United States and Europe and lowest in Asia, Africa, and the Hispanic population (11–13).

Even though ALS was discovered many years ago, data about characterize the origin, accurate diagnosis and cure for the disease remains undefined. Many researchers underscore studies that clearly and specifically provide information that can help in the development of effective ALS diagnosis and treatment strategies (14, 15). The lack of clinical and epidemiological studies hinders the obtention of reliable data on the etiology, incidence, and prevalence of ALS worldwide (16).

As in the scenario of other chronic diseases, population-based studies, such as population-based registries, have proven to be important tools for defining clinical and prognostic characteristics (17). Nowadays, it is possible to find ALS-specific electronic reference registries that can serve as a basis for the development of new registries for countries that do not yet have this tool (18–23). Of note, few countries have epidemiological data on the disease, a fact that may contribute to the slower progress of ALS-related studies (24). Furthermore, studies that have explored the epidemiology of ALS in the Latin American population are scarce.

In Brazil, some studies have been conducted to indicate the prevalence and incidence in the country. According to Lopes-Júnior et al. (25), Brazil is gaining attention when it comes to public health policy discussions for rare disease patients, but public health services still have many challenges to overcome. According to the website of the Brazilian Institute of Geography and Statistics (IBGE), Brazil has a little more than 8.51 million km² of territory divided among the 27 federative units, including the Distrito Federal, the country's capital, with more than 213 million inhabitants (26). Although, according to the 1988 constitution, health is a “right of all and a duty of the State”, Brazil has significant social inequality and part of the population has difficulty accessing basic health services (27, 28). Due to these characteristics, reaching the population is one of the difficulties faced in monitoring and surveillance of several diseases. Some challenges are reflected in the case of ALS patients, where the geographic distribution of these patients is still partially known.

Even with the reported challenges, some studies have already been developed. Dietrich-Neto et al. (29) conducted the first nationwide study, estimating prevalence and incidence of 0.9–1.5/100,000 and 0.4/100,000, respectively. The survey was conducted by sending a form to 2,505 Brazilian neurologists in the period between January and September 1995. Data from 443 patients were collected. The second population-based study, conducted by Moura et al. (30), had as its information source the data from death certificates, from January 2004 to December 2013. As a result, the incidence was estimated to be 0.61 to 0.89/100,000. Other studies on the epidemiology of ALS have been conducted, but only at the state or municipal level (31–34).

Despite these studies and the official documents made available for the optimization of diagnosis and proper care for ALS patients (35), the Brazilian Health System (SUS) still experiences an absence of digital health solutions that provide ALS monitoring and surveillance in the country. Considering the scarcity of epidemiological data on ALS throughout the country, it is evident the need for the implementation of digital tools for data collection and processing to generate dashboards with indicators and information that can contribute to the more effective conduct of public health policies in Brazil. The epidemiological indicators are essential resources for the situational analysis of ALS and provide subsidies that guide the development of public policies, lines of care, and effective actions in the healthcare network.

In this context, electronic records are used for the organized and accurate collection of a set of essential data for research and surveillance (36, 37). From this data, it becomes possible to present indicators and know the profile of the disease, and the data set collected in rare disease registries serves as a basis for several studies (18, 38–41). These electronic records are seen as a digital health tool that contributes to more efficient interventions in the country's health system (42, 43). Digital health solutions are strategic and innovative tools used to address health needs with the potential to improve coverage of health services and practices (44). An intelligent and responsive digital health system has benefits, especially in low-resource settings, such as low/middle-income countries (45). The reach that technologies allow us to achieve is an important factor for the realization of a national study with territorial dimensions as extensive as those of Brazil (46).

This study aims to describe and analyze the development and application of a digital health solution for research, intervention, and strengthening the response to ALS in the SUS. The development of this solution is part of a project, called RevELA (project No: 132/2018), funded by the Brazilian Ministry of Health (MoH). The RevELA project is composed of several dimensions, which demand actions with goals focused on the development of applied research and products in the areas of alternative communication (47), health education, follow-up and monitoring of patients with ALS (24, 48–51) and development of clinical protocols for cardiorespiratory rehabilitation of patients with ASL (52, 53). The present digital health solution is a platform that integrates the Brazilian National Registry of people with ALS, a tool for collecting data on individuals, and its database feeds a second tool, a nationwide monitoring room, called the Brazilian National ALS Observatory.

The national ALS monitoring room in Brazil includes resources that offer timely, transparent, and quality information, capable of providing a basis and support for the design of the profile of this grievance at the national level. The information stored on the platform can be analyzed by care specialist teams and also by public health managers, both in the individual and collective monitoring of people living with ALS and in research and public health intervention nationwide.

The process of developing the digital solution was guided by the action-research method, as defined by Tripp (54), characterized by constant improvement, analysis, study, and application of changes. It is an agile continuous improvement method. The author states that action research requires both the fields of practice and scientific research because it uses research to guide actions that improve practice, that is, research acts to solve real-world problems.

The proposed digital health solution was developed in five stages: planning, execution, validation, implementation, and monitoring. All stages were carried out sequentially in several cycles by applying the iterative and incremental model. The cyclical nature of development composed of the defined stages led to the use of the SCRUM framework (55), shown in Figure 1. This framework is suitable for the development of the platform because it is flexible to the necessary changes and allows for continuous improvement in the development process, as well as making use of up-to-date tools, processes, and training (56).

The first stage of development consisted of planning the digital health solution. During this time, the outline, goals, technologies, architecture, functionalities, and flow of the platform were defined. After the overall planning, the solution proposed was divided into smaller functionalities to be developed iteratively and incrementally. For the development of each functionality, new planning was required to define the activities, teams, time, and effort needed. During the execution of these activities (second stage), meetings were held with the development team and the expert team to understand what impediments existed and how difficulties could be overcome so that the execution of the activities could progress. Once the execution was completed within the given timeframe, the functionality/implementation went through a validation and verification stage (third stage) with the specialists so that it could be enhanced in the final product (fourth stage). This cycle was repeated several times until the product was finished. Even after finalization, the digital health solution constantly goes through the monitoring process, in which the end user uses the platform and checks if any functionality needs to be implemented and updated.

All steps in the development of the National ALS Registry and National Observatory were monitored and validated by a transdisciplinary group of experts in the field of data science and health, with knowledge related to ALS and public health monitoring, planning, and management. The step of creating the forms for the National Registry data collection was carried out in partnership with teams of neurologists from centers considered to be reference centers for ALS in Brazil, such as: Onofre Lopes University Hospital of the Federal University of Rio Grande do Norte, University of São Paulo Medical School and Brazilian Academy of Neurology (BAN). This stage included several meetings for suggestions and validation until the definition of a minimum data set with the main variables that should be considered for collection. It is noteworthy that the National Register is not an electronic patient record, but an Epidemiological Register with national coverage in Brazil.

For the construction of the national monitoring room, besides the validation of neurologists, epidemiologists, statisticians, and members of the management team of the Public Health Secretariat of the Rio Grande do Norte (SESAP/RN) were also consulted. It is important to note that at various times during the development of the platforms, the technical team of Brazil's MoH received technical reports that allowed them to monitor and evaluate the evolution of digital health solutions. It bears mentioning that all the stakeholders involved gave their opinions and contributed in some way to the proposed analyses. This entire qualification and validation flow is a very important step in the development process since it is essential to adapt the functionalities to meet the needs of the public that will use the system and always with the focus on the final goal which is to propose an environment that allows the extraction of relevant information about ALS to assist in decision making and health interventions.

ALS is still a neglected disease in the global health context, yet countries such as the USA (18, 20), Canada (19), Italy (21), Sweden (22) and New Zealand (23) have already implemented population-based registries for neuromuscular disease data collection. With this, these countries can visualize more accurately their epidemiological situation concerning this disease.

By supporting the development of RevELA, through Brazil's MoH, Brazil has contributed to an important advance and is now one of the few countries in the world that has the technology for reporting ALS. The next steps for Brazil should be to strengthen the National Registry of patients with ALS, focusing on the promotion of epidemiological studies that explore the entire extent of the disease, to overcome occasional studies, which are conducted only in some cities, regions, or states of the country. These studies, although important, are limited, especially when it comes to public health policies of national scope because they cannot provide adequate information for the country's public health authorities to develop more effective interventions at the national level.

Even with all the technological advances in health care in the world, ALS is still little known by science and health professionals. In the field of public health management, it will be possible to make more qualified decisions and adopt specific and more effective public policies, so that access to assistance, and distribution of medicines, and treatments can be expanded with more equity. These factors are following the guidelines of the Brazilian National Policy on Rare Diseases within the Brazilian Health System, Ordinance No. 199, of January 30, 2014 (60). This Ordinance of the Brazilian MoH represents a breakthrough in the care of patients with Rare Diseases, among them Amyotrophic Lateral Sclerosis. In addition, established the National Policy for the Comprehensive Care of People with Rare Diseases, and also approved the Guidelines for the Comprehensive Care of People with Rare Diseases within the Brazilian National Health System, and defined the financial incentives for funding. However, it was not possible to evaluate or measure the effectiveness of this policy due to the lack of qualified data and information about patients with Rare Diseases in Brazil. These aspects can be solved by joining the Brazilian National Registry of ALS Patients to collect data on the disease.

Influenced by the creation of the Brazilian National Registry of ALS patients, the state of Rio Grande do Norte (RN) in Brazil's Northeast Region is the first in the country to create and pass a compulsory notification law for ALS. Therefore, Law No. 10,924 of June 10, 2021 (61) purpose, is to register the cases of ALS in RN, compulsorily, and to evaluate some characteristics of the disease in the state. This aspect is very positive because it shows that other Brazilian states can follow the same path.

In other Brazilian states, the ALS philanthropic associations became partners of the project and carry out campaigns to publicize the National Registry on social networks or in print media. As a result, the platform has gained more visibility in the states and there has been an increase in the number of patients who have self-reported. Figure 11 shows the timeline related to new registrations and self-reports performed in a given period. The evident peaks in the timeline are intrinsically associated with campaign periods and association disclosure events. Such campaigns are important strategies to minimize the limitation related to reaching the target population and to raise public awareness and access data about the disease. Thus, the more publicity there is, the more data will be collected in the country.

Brazil is a developing country and one of the largest economies in the world, but it is also a country with a lot of social inequality. By developing and incorporating digital health solutions into its healthcare system to increase the transparency and quality of information about patients with ALS, the country works toward providing access to healthcare services to lower-income patients who may develop ALS. In this case, the use of these technologies which also contribute to the digital transformation of health in the country, contribute not only improving the epidemiological view of this disease but also as a tool inducing equity and social justice. The qualification of the information about ALS in Brazil allows decision-makers to make public policies more effective, thereby increasing the impact of the health system on the quality of life of patients with ALS.

As a further perspective, the RevELA project has proposals to include other government sources for the data collection on ALS, promoting interoperability of health information systems, and contributing to a more accurate database that presents the reality of Brazil regarding ALS cases. In addition, due to the need for multidisciplinary follow-up, an Electronic Health Record for ALS Patients (EHR ALS) is being developed. This medical record consists of a platform for the electronic recording of data regarding the clinical history of patients with ALS intending to provide greater integration between the professionals that make up the multidisciplinary team and improve patient follow-up. To enable a detailed follow-up of patients' evolution, the National Registry will be integrated with the EHR ALS, thus creating a technological ecosystem centered on the ALS patient.

Just as it is being used for ALS, the digital health solution presented can serve as a basis for studies on other rare diseases in the country, seeking to understand more about their characteristics and the geographical distribution of patients. The formation of a registry with data on rare disease patients is the first step toward inducing public policies that will provide improvements in the quality of life of these individuals.

To minimize the problems concerning the absence of data on ALS in the country, the RevELA project, in partnership with the Brazilian MoH, proposed and developed a digital health solution that aims to efficiently collect and analyze clinical and epidemiological data of patients with ALS throughout the Brazilian territory. The data collected by the National Registry will be used in supporting essential surveillance and care actions for patients with ALS. This solution represents a key element in public policy strength and stands out for being the only ALS database, besides containing innovations that allow data collection by the health professional and/or by the patient. By using the data collected it is possible to investigate common characteristics among individuals, estimate the incidence and prevalence of cases, and find demographic characteristics and possible risk factors associated with the environment. To optimize the visualization of the collected data, a monitoring room was also developed consisting of ALS indicators in Brazil from data collected by the National Registry platform. It is believed that by using both platforms, it will be possible to understand the geographical distribution of cases, improve the care of individuals diagnosed with the disease, have the necessary knowledge to plan health interventions and support decision-making processes in the public health management dimension.

The original contributions presented in the study are included in the article/Supplementary material, further inquiries can be directed to the corresponding author.

IB, AF, FF, MD, and RV contributed to the conception, study design, and development of the platform. TL, AM, and RL contributed to the design of the results and discussions. JH, PG, DN, JS, and JP contributed to the revision and writing of the manuscript. All authors contributed to the writing of the paper and approved the submitted version.