Acceso a medicamentos huérfanos para el tratamiento de la atrofia muscular espinal en España

B. García-Parra, J.M. Guiu, P. Modamio, A. Martínez-Yélamos, E.L. Mariño-Hernández, M. Povedano[REV NEUROL 2022;75:261-267]PMID: 36285446DOI: doi:10.33588/rn.7509.2022298 

La atrofia muscular espinal (AME) es una enfermedad rara cuyo diagnóstico y tratamiento es complejo. En España hay dos medicamentos huérfanos financiados por el Sistema Nacional de Salud, nusinersén y onasemnogén abeparvovec, y un tercero, risdiplam, pendiente. El objetivo fue analizar el acceso a los fármacos modificadores de la AME y detectar posibles causas de inequidad. Materiales y método. Estudio descriptivo realizado en dos fases: revisión bibliográfica y entrevistas semiestructuradas a expertos clínicos en AME de las comunidades autónomas (CC. AA.) de Andalucía, Castilla-La Mancha, Cataluña y Murcia. El número de centros, servicios o unidades de referencia, la disponibilidad de planes autonómicos para enfermedades raras y los programas piloto de cribado neonatal pueden modular el acceso a los nuevos tratamientos farmacológicos. El número de nuevos pacientes diagnosticados al año se estimó entre uno y seis en cada una de las CC. AA. estudiadas. Dos de las cuatro CC. AA. estaban participando en ensayos clínicos. El tiempo desde la prescripción a la administración de nusinersén estaba entre siete y 60 días. Sólo Cataluña comunicó experiencia con onasemnogén abeparvovec a 30 de junio de 2022. Dos CC. AA. de las cuatro estudiadas disponen de plan autonómico para enfermedades raras; no obstante, se identificó como relevante para el tratamiento de la AME sólo en una de ellas.

Repositioning Drugs for Rare Diseases Based on Biological Features and Computational Approaches

Otero-Carrasco, B.; Prieto Santamaría, L.; Ugarte Carro, E.; Caraça-Valente Hernández, J.P.; Rodríguez-González, Healthcare 2022, 10, 1784. doi:10.3390/healthcare10091784 

Rare diseases are a group of uncommon diseases in the world population. To date, about 7000 rare diseases have been documented. However, most of them do not have a known treatment. As a result of the relatively low demand for their treatments caused by their scarce prevalence, the pharmaceutical industry has not sufficiently encouraged the research to develop drugs to treat them. This work aims to analyse potential drug-repositioning strategies for this kind of disease. Drug repositioning seeks to find new uses for existing drugs. In this context, it seeks to discover if rare diseases could be treated with medicines previously indicated to heal other diseases. Our approaches tackle the problem by employing computational methods that calculate similarities between rare and non-rare diseases, considering biological features such as genes, proteins, and symptoms. Drug candidates for repositioning will be checked against clinical trials found in the scientific literature. In this study, 13 different rare diseases have been selected for which potential drugs could be repositioned. By verifying these drugs in the scientific literature, successful cases were found for 75% of the rare diseases studied. The genetic associations and phenotypical features of the rare diseases were examined. In addition, the verified drugs were classified according to the anatomical therapeutic chemical (ATC) code to highlight the types with a higher predisposition to be repositioned. These promising results open the door for further research in this field of study.

Patient-Reported Impact of Symptoms in Friedreich Ataxia

Jamison Seabury, Danae Alexandrou, Nuran Dilek, Brittany Cohen, John Heatwole, Jane Larkindale, David R Lynch, Courtney Park, Spencer Rosero, Sub H Subramony, Anika Varma, Ellen Wagner, Susan Walther, Jennifer Weinstein, McKenzie Wells, Christine Zizzi, Chad Heatwole Neurology Nov 2022, 10.1212/WNL.0000000000201598; DOI: 10.1212/WNL.0000000000201598 

There are a wide variety of symptoms that affect the lives of individuals with FA. These symptoms, many underrecognized, have different levels of importance and occur at different rates in the FA population. The most common and life altering of these symptoms represent potential targets for future therapeutic interventions.

Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension

Lynch, D.R., Chin, M.P., Boesch, S., Delatycki, M.B., Giunti, P., Goldsberry, A., Hoyle, J.C., Mariotti, C., Mathews, K.D., Nachbauer, W., O'Grady, M., Perlman, S., Subramony, S., Wilmot, G., Zesiewicz, T. and Meyer, C.J. (2022), . Mov Disord. doi:10.1002/mds.29286 

 The noninferiority testing demonstrated that the difference in mFARS between omaveloxolone and placebo observed at the end of placebo-controlled MOXIe part 2 (−2.17 ± 1.09 points) was preserved after 72 weeks in the extension (−2.91 ± 1.44 points). In addition, patients previously randomized to omaveloxolone in MOXIe part 2 continued to show no worsening in mFARS relative to their extension baseline through 144 weeks.