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All 25 pre-symptomatic infants treated with Biogen’s Spinraza (nusinersen) in a Phase 2 clinical trial of spinal muscular atrophy (SMA) did not require permanent ventilation and exhibited motor improvements, according to a preliminary analysis. The ongoing NURTURE study (NCT02386553) is assessing the effectiveness and safety of treatment…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference, “Rare…

The Muscular Dystrophy Association (MDA) has asked the medical data services company IQVIA to expand its disease registry into a hub of information on seven neuromuscular conditions, including spinal muscular dystrophy (SMA). The repository will include disease information from care providers, genetics data, and patient-reported information. In addition to SMA, the…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

A disruption between two molecules that transport substances to the remote ends of special nerve fibers may result in neurodegenerative disorders such as spinal muscular atrophy (SMA) or amyotrophic lateral sclerosis (ALS), a study suggests. The study, “hnRNP R and its main interactor, the noncoding RNA 7SK, coregulate…

Neurochondrin, a protein essential for nerve cells, was found to interact with the survivor motor neuron protein (SMN), whose deficiency causes spinal muscular atrophy (SMA). This finding reveals a previously unknown player and potential therapeutic target for SMA. The study “Neurochondrin interacts with…

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…

Administering stem cell therapy to the fetuses of mice with spinal muscular atrophy (SMA) type 3 improved the animals’ movement and survival after birth, a study reports. The research, “Prenatal transplantation of human amniotic fluid stem cells for spinal muscular atrophy,” appeared in the journal Current Opinion in Obstetrics and…

Heart defects occurring pre-birth may contribute to cardiac pathology in spinal muscular atrophy (SMA) patients, according to a mouse study. SMA patients primarily have loss of specialized nerve cells called motor neurons in the spinal cord, which causes progressive muscle atrophy. However, patients also may develop impairments in the liver, lungs, pancreas, spleen, testis, gut, and blood vessels. Cardiac abnormalities long have been associated with SMA, but only recently have they been recognized as a core feature of severe SMA. These are divided in two major categories: structural defects, and arrhythmia (irregular heartbeat). The most common congenital structural defects in SMA patients are in the atrial and ventricular septum, which refers to the wall dividing the left and right parts of the heart, and in the aortic arch — the artery's intersection between ascending and descending zones. However, pulmonary hypertension, ventricular enlargement, and cardiomyopathies — disorders of the heart’s muscle — also have been described. Altogether, the evidence suggests a diverse array of cardiac defects, which warrants further research to clarify the exact involvement of these co-morbidities in SMA. Mouse models of both mild and severe SMA have successfully reproduced the complex picture of cardiac defects, but their understanding is still incomplete. Besides heart defects, reduced blood vessel density, necrosis and the formation of blood cells outside of the bone marrow — are further cardiovascular system impairments in SMA.  These abnormalities have been observed in both patients and mouse models with severe disease. The research team conducted a detailed morphological analysis of the heart in the Taiwanese mouse model used to replicate a severe phenotype of SMA, and focused on the period between birth and the first appearance of neuromuscular symptoms to identify the mechanisms underlying the initiation of cardiovascular defects. The analysis revealed thinning of the ventricular septum at three days after birth and dilation of the ventricles at pre- and early-symptomatic ages, which matched data from other mouse models. Importantly, researchers observed that the thinning of the left ventricular wall occurred from birth, prior to any neuromuscular symptoms. Changes in the collagen IV protein also occurred from birth and contributed to abnormal arrangement of cardiomyocytes — cells that make up the heart’s muscle. These cells also exhibited oxidative stress before symptom's initiation and increased apoptosis (cell death) during the early stages of SMA. In addition, the heart’s vascular density was decreased. Importantly, researchers observed increased blood retention in the hearts of the mice, suggesting functional defects. “Taken together, these findings point toward impaired development of the SMA heart as a significant contributor to cardiovascular defects,” researchers wrote. "These pathologies mirror dilated cardiomyopathy, with clear consequences for heart function that would likely contribute to potential heart failure.” The team believes its findings support the need to develop disease therapies that also target non-neuromuscular alterations in SMA patients.