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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Control | No Intervention | A group of 10 patients only will be subjected to electro-myogram test every 3 month and then follow up for their survival time without any cell therapy intervention. | |
| Adipose derived Mesenchymal Stem cell | Experimental | A group of 10 patients will be take stem cells intra-thecally Dose: 1 million cells/kg for three times Intervals: Every 3 weeks. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Adipose derived mesenchymal stem cell | Biological | Allogeneic Adipose derived Mesenchymal Stem cell transplant |
|
| Measure | Description | Time Frame |
|---|---|---|
| Changes in action potential of muscles on ElectroMyoGram (EMG) test | Measure the electrical activity of muscles by Electromyography | Change from Baseline of intervention at 3 month |
| Measure | Description | Time Frame |
|---|---|---|
| Changes in Motility on Modified Barthel Index Score | Measure any phenotypic changes in patients motion by direct Observation on Modified Barthel Index Score | Change from Baseline of intervention at 1 year |
| Measure | Description | Time Frame |
|---|---|---|
| Change in overall survival (Mortality) | The length of survival after intervention measured by direct observation | 2 Years |
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
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Rashin Mohseni, PhD | Contact | +989123230627 | rashin_mohseni@yahoo.com |
| Name | Affiliation | Role |
|---|---|---|
| Mahmoode Reza Ashrafi, MD | Children's Medical Hospital, Tehran University of Medical Sciences | Principal Investigator |
| Amir Ali Hamidieh, MD | Hematology-Oncology & Stem cell Transplant Research center, Tehran University of Medical Sciences |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Children's Medical Center | Recruiting | Tehran | Tehran Province | 14194 | Iran |
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| ID | Term |
|---|---|
| D014897 | Spinal Muscular Atrophies of Childhood |
| ID | Term |
|---|---|
| D009134 | Muscular Atrophy, Spinal |
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
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| ID | Term |
|---|---|
| D064987 | Cell- and Tissue-Based Therapy |
| ID | Term |
|---|---|
| D001691 | Biological Therapy |
| D013812 | Therapeutics |
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| Rashin Mohseni, PhD | School of Advanced Technologies in Medicine, Tehran University of Medical Sciences | Study Director |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D016472 | Motor Neuron Disease |
| D009468 | Neuromuscular Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |