LTFU model helps SMA families, clinicians, NBS programs: Study
Program underscores importance of early diagnosis, treatment
A program designed to provide data and tools for people with spinal muscular atrophy (SMA) identified through newborn screening (NBS) can help families and clinicians engage with public health agencies and ensure the best possible outcomes, a study found.
The Long-Term Follow-up Cares and Check Initiative (LTFU-Cares and Check) program “is a helpful model of LTFU that provides a system of meaningful engagement between state NBS programs and the clinicians who care for individuals identified with an NBS condition,” the researchers wrote.
The study, “Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening,” was published in the International Journal of Neonatal Screening.
Multiple lines of evidence confirm that initiating treatment with SMA disease-modifying therapies as early as possible offers the most significant benefits to SMA patients. This underscores the critical importance of early diagnosis.
Several countries, including the U.S., have launched NBS programs to detect SMA immediately at birth, sometimes before symptoms emerge. Blood is collected from a small heel prick, and DNA is extracted and screened for the genetic defects that cause SMA.
Most require ongoing care, support
Even with early detection and treatment, however, most infants identified by NBS will continue to require ongoing care and community support throughout their lives.
LTFU-Cares and Check was designed to evaluate long-term follow-up data collection and reporting tools for SMA newborns identified through NBS. Its goal is to enable NBS programs, patients, families, and clinicians to work together to ensure that those with SMA identified through NBS achieve the best possible outcome.
A team led by researchers at the American College of Genetics and Genomics in Bethesda, Maryland, described the LTFU-Cares and Check initiative and its preliminary results.
LTFU-Cares refers to data collected from families, patients, clinicians, and NBS programs. Clinicians entered data on at least one SMA case with up to five years of annual data since the NBS of SMA began in July 2018. Pediatric neurologists reviewed all data and summarized the information rather than entering data for individual visits.
Data were shared using the LTFU-Cares dashboard, which provided visualization models showing de-identified, case-level data for clinicians and combined annual data for state NBS programs. Dashboards show detailed demographics, NBS results, health outcomes, interventions, and care coordination.
LTFU-Check, designed to meet the specific needs of state NBS programs, provides annual checklists for outcomes, therapies, and care coordination, as well as additional resources.
From September 2022 to January 2024, the website attracted 499 users. Of those, 328 (66%) were new users, and 157 (31%) expressed interest in learning about the project. Following marketing promotions, user engagement on the website increased by at least 200%. A total of 22 (8%) expressed an active interest in joining the efforts.
Eight pediatric neurologists who treated SMA cases identified via NBS at seven hospitals joined. Clinicians participated in multiple focus groups to help design the LTFU-Cares data collection tool and the LTFU-Check data fields and provide feedback on the design of the LTFU-Cares data dashboard, aiming to encourage data sharing with the state NBS program.
Sixteen families with children with SMA participated in the project. Half of them were identified through NBS. Most respondents were women with high incomes who prioritized topics like gene therapy and improved outcomes for children and families. Priorities were based on disease severity, with mobility less important in milder cases. Despite varied levels of specialized care, all families strongly bonded with their childrens’ neurologists.
Emotional support resources lacking
While most families said their physical needs were being met, only a small percentage reported adequate emotional support. The most significant gap occurred around the transition from pre-birth and pre-diagnosis to diagnosis and treatment. Researchers noted that the LTFU-Cares component will provide information on patients lost to follow-up.
LTFU-Cares data collection consisted of 81 common data elements (CDEs), which are standardized data points used across different research studies or clinical settings. The most complete forms of CDE included clinical site information, patient details, demographics, health outcomes, and treatment. Care coordination was the least complete.
Clinical sites entered data from 18 cases, all of which had data from the first year of life. Six (33%) had data from two years, and three (17%) posted data from three years. Nearly all clinical sites (86%) entered data from more than one SMA case.
Results from the LTFU-Cares data dashboard showed patient data tailored to pediatric neurologists and state-level data for the various states. All clinicians emphasized the importance of showing maximal motor milestones achieved over time, “a feature tailored to help them assess if cases were on target,” the researchers wrote. Clinicians also wanted detailed information on the timing of treatment from NBS results on state dashboards.
“We successfully developed and implemented the LTFU Cares and Check Initiative to design, implement, and evaluate data collection and reporting tools with a focus on newborns identified with SMA through NBS,” the researchers wrote. “Future efforts will evaluate the results of the program and compare the LTFU themes that were prioritized by parents and families with the data points of interest to pediatric neurologists and state NBS programs.”
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