The First Report of Iranian Registry of Patients with Spinal Muscular Atrophy

Abstract

Background: insufficient amounts of survival motor neuron protein is leading to one of the most disabling neuromuscular diseases, spinal muscular atrophy (SMA). Before the current study, the detailed characteristics of Iranian patients with SMA had not been determined. Objective: To describe the key demographic, clinical, and genetic characteristics of patients with SMA registered in the Iranian Registry of SMA (IRSMA). Methods: IRSMA has been established since 2018, and the demographic, clinical, and genetic characteristics of patients with SMA were recorded according to the methods of treat neuromuscular disease (TREAT-NMD) project. Results: By October 1, 2022, 781 patients with 5q SMA were registered. Of them, 164 patients died, the majority of them had SMA type 1 and died during the first 20 months of life. The median survival of patients with type 1 SMA was 23 months. The consanguinity rate in 617 alive patients was 52.4%, while merely 24.8% of them had a positive family history. The most common type of SMA in live patients was type 3. Morbidities were defined as having scoliosis (44.1%), wheelchair dependency (36.8%), tube feeding (8.1%), and requiring mechanical ventilation (9.9%). Most of the registered patients had a homozygous deletion of SMN1, while the frequency of patients with higher copy numbers of SMN2, was less in more severe types of the disease. Earlier onset of the disease was significantly seen in patients with a homozygous deletion of SMN1. The neuronal apoptosis inhibitory protein (NAIP) gene deletion was associated with a higher incidence of more severe types of SMA, higher dependency on ventilators, tube feeding, and earlier onset of the disease. Conclusions: The IRSMA is the first established Iranian nationwide registry of patients with SMA. Using this registry, decision-makers, researchers, and practitioners can precisely understand the epidemiology, characteristics, and genetics of patients with SMA in Iran.

RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy

“…Of the 295 patients studied, 147 were under 16 years of age and 148 were 16 or older. In contrast to that observed in other registries [22,23], in RegistrAME, type 2 and not type 3 was the predominant SMA type (48.87% and 28.81%, respectively). Unlike a previous Spanish study [5], there were no patients with just one SMN2 copy in our registry.…”

The First Decade of Journal of Neuromuscular Diseases: Supporting and Advancing the Rapidly Evolving Field of Translational Research

“…Those studies include 83 articles using animal models, the majority in mice, 57 studies describing clinical trials, 50 natural history studies and 96 including genetic research. While most articles originate from research institutions, hospitals and industry in Europe, Japan and North America, some of our recent publications were from Lebanon, Kazakhstan, Thailand, Iran and India [1][2][3][4][5][6]. We are very grateful to the many authors, reviewers and associate editors, without whom none of this would have been possible.…”