Spinal muscular atrophy (SMA) is a neurodegenerative disease in which there has been an increase in survivalover the past decade due to proactive, multidisciplinary management and the emergence of disease-modifying therapies.Despite this, there are still several critical challenges that significantly impact the quality of life of individuals with SMAindividuals. Given the need to better understand the reality of this disease, Fundación de Atrofia Muscular Espinal (FundAME)created a patient registry (RegistrAME).
RegistrAME is a longitudinal prospective study that collectsclinical data and patient-reported outcomes.
The registry included 336 individuals, 51.8% of whom were over16 years old. Most adult subpopulations were classed as type 2 (49.4%) or type 3 (44.8%). Regarding functional status,19% walked (39.4% used wheelchairs), 46.6% sat without support (84% needed help to sit), and 34.5% were non-sitters.Furthermore, 24.7% reported having no useful function in their hands or not being able to reach their mouths with theirhands. Our study indicates that the adult SMA population is progressively accessing disease-modifier treatments. However,21.8% of the population is still untreated.
These results provide evidence of a progressive impairment andincreased sensitivity to treatment discontinuations in the SMA adult population, along with delayed or reduced access tocommercialised SMA drugs and clinical trials. A more rigorous evaluation of the disease’s impact and treatment benefitsin the adult SMA population is necessary.
In epidemiology, the relative frequency of a disease is expressed as the proportion of individuals affected, typically expressedas a percentage, or per thousand individuals. Another important measure is the odds, which represents the ratio of affectedindividuals to unaffected individuals, calculated by dividing by the proportion of affected individuals by the proportion ofunaffected individuals. To assess whether a specific factor increases or decreases the risk of disease, researchers comparethe proportion of affected individuals in an exposed group (where the factor is present) with an unexposed group (wherethe factor is absent). This comparison can be quantified using three key measures: Risk Difference (RD): The absolutedifference in disease risk between the exposed and unexposed groups. Relative Risk (RR): The ratio of disease risk in theexposed group to that in the unexposed group. Odds Ratio (OR): The ratio of the odds of disease in the exposed groupto the odds in the unexposed group. While risk reflects the proportion of individuals affected within a population, oddsrepresent the ratio of affected to unaffected individuals. The OR is particularly useful in case-control studies because it canapproximate the RR when diseases are rare, providing valuable insights even when direct risk calculations are not feasible.
Monoclonal antibodies against calcitonin gene-related peptide (CGRP) have revolutionized migraine treatment, though one-third of patients do not respond to these medications. One of the emergent reasons for this apparent lack of response could be a wearing-off effect, as the case of our patient illustrates.
A woman aged 36 years with the diagnosis of migraine with aura since childhood, which transforms to chronic migraine and daily headache, with analgesic overuse for the past 5 years. She failed to respond to multiple oral preventatives, botulinum toxin, and two CGRP antibodies (erenumab and galcanezumab). After initiating quarterly eptinezumab, she noticed a relevant improvement in the number of headache days per month for the first 8 weeks but experienced a clear wearing-off effect during the third month of treatment, for two consecutive treatments. We altered administration to every 8 weeks, which better controlled her migraine frequency.
CGRP antibodies can show a wearing-off effect, which should be identified in order to plan individualized treatment and avoid an incorrect interpretation as therapeutic failure. Our case also shows that patients with chronic migraine refractory to two antibodies can respond to a third CGRP antibody, in this case, intravenous eptinezumab.
Stroke has an enormous impact on society, both socially and economically. It is the most common causeof admission and prolonged stay in the Neurology ward.
We performed a cost-effectiveness analysis of stroketreatment in the Complejo Hospitalario de Santiago de Compostela, where patients are treated in a stroke unit. Firstly,an analysis of the costs of treatment in the stroke unit was carried out, which had not been done before. The costs werecompared with those that would be incurred if the disease was treated without the stroke unit, verifying that the existenceof such a unit implies an increase in treatment costs. Next, various parameters reflecting the efficacy of the treatment wereanalyzed to finally perform a cost-effectiveness analysis in order to determine whether the increase in costs is justified byan improvement in outcomes.
Stroke treatment in the centralized stroke unit would be cost-effective if we usemortality during hospitalization or 3 months after discharge, the mRS parameter at discharge or 3 months after discharge,and severe disability at discharge as measures of effectiveness.
The increased costs of a stroke unit are justifiedby the improved health of the patients.