Infantile Spinal Muscular Atrophy, Type I [Werdnig- Hoffman]
Conditions
Brief summary
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.
Interventions
BIOLOGICALAdipose derived mesenchymal stem cell
Allogeneic Adipose derived Mesenchymal Stem cell transplant
Sponsors
Tehran University of Medical Sciences
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
5 Months to 12 Months
Healthy volunteers
No
Inclusion criteria
Age under 12 month, Weak muscle tone, Weakness in mobility, Patients sitting without full conduction of nerve Existence of home senses, Normal Brain function
Exclusion criteria
Age beyound 12 month, Brain abnormality, Loss of sensory functions Malignancies
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Changes in action potential of muscles on ElectroMyoGram (EMG) test | Change from Baseline of intervention at 3 month | Measure the electrical activity of muscles by Electromyography |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Changes in Motility on Modified Barthel Index Score | Change from Baseline of intervention at 1 year | Measure any phenotypic changes in patients motion by direct Observation on Modified Barthel Index Score |
Other
| Measure | Time frame | Description |
|---|---|---|
| Change in overall survival (Mortality) | 2 Years | The length of survival after intervention measured by direct observation |
Countries
Iran
Contacts
Primary ContactRashin Mohseni, PhD
Outcome results
None listed