Spinal muscular atrophy with respiratory distress type 1 (SMARD 1)is a rare, autosomal recessive neuromuscular disease characterized by degeneration of the motor neuron that manifests clinically with distal muscle weakness and respiratory failure. This disease is caused by recessive mutations of the IGHMBP2 gene. There is a clinical variant associated with mutations of the same gene with a milder phenotype that occurs with sensory motor axonal neuropathy (Charcot Marie Tooth 2S disease – CMT2S).
The detailed characterization of the patients’ cohort becomes a fundamental step for the description of the different phenotypes and the natural history of the pathology in order to define the clinical parameters and the outcome measures that can be used in future therapeutic clinical trials.
Being rare diseases, in order to provide an accurate description of the clinical phenotypes, in collaboration with Nationwide Children’s Hospital in Columbus, Ohio andwith Dr.Kathrin Meyer and Dr. Megan Waldrop, the Fondazione IRCCS Ca’ Granda Ospedale MaggiorePoliclinico di Milanohas started a “Natural History Study of IGHMBP2-Related Diseases“, whose Principal Investigator is Dr. Stefania Corti and coordinator Dr. Alessandra Govoni. A parallel study is also already ongoing at Nationwide Children’s Hospital.
Our Institute is a referral center in Europe for patients with these pathologies.
This study will allow defining the natural history and the outcomes measures useful in therapeutic clinical trials for SMARD1.