Active clinical trials for "Spinal Muscular Atrophies of Childhood"

Assess the efficacy and the safety of olesoxime in SMA type 2 or type 3 non ambulant patients aged 3-25 years

The objectives of this trial are: to establish a safety profile for use of Hydroxyurea in children with Types II and III Spinal Muscular Atrophy; to identify reliable outcome measures for HU treatment in Types II and III SMA; and to detect the clinical efficacy of HU treatment in children with Types II and III SMA.

This is a multi-center trial to test safety and evaluate early treatment intervention with valproic acid and carnitine in moderating SMA symptoms of Type I infants.

The purpose of this study is to evaluate safety and efficacy of anti-cholinesterase therapy on the motor function in SMA type 3 patients with impaired neuromuscular junction (NMJ).

A trial investigating the effects of pyridostigmine (mestinon) versus a placebo in a double-blind cross over trial in patients with hereditary proximal spinal muscular atrophy (SMA) types 2, 3 and 4.

Spinal Muscular Atrophy (SMA) is an autosomal recessive disease of motor neurons. In the early 1980s, Werdnig from Vienna University and Hoffman from Heidelberg University described this disorder. So SMA type 1 was named Werdnig- Hoffman disease. This is the first genetic disorder that cause death after cystic fibrosis in infants with the prevalence of 1 in 6000 birth. Mutation in the SMN1 gene (Survival Motor Neuron) is the reason for the disease that cause decrease in the SMN protein production. So the alpha motor neurons in the spinal cord ventricle horn will be destroyed and it cause progressive paralysis and defenite death.No specific therapy is yet available for the treatment of Werdnig-Hoffmann disease. Treatment is not disease-modifying and just is supportive. SMA type 1 is diagnosed within the early 6 month after birth and accompanied with breath disorders and definite death in 2 years. The affected infants have a weak muscle tone and they couldn't even hold their head up. Perhaps the only open way for these patients is the application of stem cells that could deliver trophic factor to the apoptotic cells. So this study focuses on the effectivness of cell therapy via adipose derived mesenchymal stem cells on the probable phenotypic changes in these patients.

The purpose of this study is to evaluate the impact of the use of a pediatric exoskeleton on the quality of life of children, specifically in the psychological and care dimensions. Other objectives are to evaluate changes at the physical and functional level.

The aim of this project is to establish a network of clinical teams including the major neuromuscular centers in Europe. We plan to work together to find the best common outcome measures for the following multicenter therapeutic trials.

The purpose of this study is to evaluate the quality of supportive and palliative care for SMA type 1 patients.