Spinal Muscular Atrophy Clinical Trial
Official title:
Mechanisms of Cell Death in Spinal Muscular Atrophy
NCT number | NCT01754441 |
Other study ID # | 82008 |
Secondary ID | |
Status | Completed |
Phase | |
First received | |
Last updated | |
Start date | May 2008 |
Est. completion date | February 2020 |
Verified date | February 2020 |
Source | Nemours Children's Clinic |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
Spinal muscular atrophy is a genetically based disease that affects motor neurons in the spinal cord and leads to muscle wasting and weakness. The gene found to be responsible for the underlying disease is called the SMN or survival motor neuron gene. Individuals with SMA are either missing a copy of the gene or have a mutation in the gene. Although the gene has been identified, how it actually causes the motor neurons to die and leads to muscle wasting and weakness is not completely understood. The investigators have found that skin cells from children with SMA tend to be more susceptible to cell death when exposed to cell death inducing agents. In this protocol, The investigators wish to study the mechanisms by which these cells die when exposed to these agents and how this may be related to the gene defect and the disease.
Status | Completed |
Enrollment | 25 |
Est. completion date | February 2020 |
Est. primary completion date | February 2020 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | N/A to 21 Years |
Eligibility |
Inclusion Criteria: - Diagnosis of SMA confirmed by neurologist Exclusion Criteria: - Not seen as a patient at a participating Nemours facility |
Country | Name | City | State |
---|---|---|---|
United States | Nemours Children's Specialty Care, Jacksonville | Jacksonville | Florida |
United States | Alfred I. duPont Hospital for Children | Wilmington | Delaware |
Lead Sponsor | Collaborator |
---|---|
Nemours Children's Clinic |
United States,
Stabley DL, Harris AW, Holbrook J, Chubbs NJ, Lozo KW, Crawford TO, Swoboda KJ, Funanage VL, Wang W, Mackenzie W, Scavina M, Sol-Church K, Butchbach ME. SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measure — View Citation
Stabley DL, Holbrook J, Harris AW, Swoboda KJ, Crawford TO, Sol-Church K, Butchbach MER. Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR. Neuromuscul Disord. 2017 May;27(5): — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | SMN localization in SMA fibroblasts | Established fibroblast lines from SMA patients will be immunolabeled with antibodies directed against SMN and examined for changes in the nuclear localization of SMN in gems. | up to 2 years | |
Secondary | SMN isoform mRNA levels | The levels of full-length SMN and SMNdelta7 (lacking exon 7) mRNA transcripts will be measured using quantitative PCR. | up to 2 years | |
Secondary | Protein levels of putative SMA phenotypic modifiers | The levels of previously identified modifiers of SMA clinical phenotype (i.e. plastin-3 and ZPR-1) will be examined by immunoblot. | up to 2 years | |
Secondary | cell viability in response to DNA damaging agents | The responsiveness of SMA fibroblasts to DNA damaging agents such as camptothecin, etoposide, bleomycin and actinomycin D will be measured using cell viability assays | up to 2 years | |
Secondary | SMN protein levels | SMN protein levels will be measured by immunoblot. | up to 2 years | |
Secondary | cell viability in response to cell death-inducing agents | The responsiveness of SMA fibroblasts to cell death-inducing agents such as staurosporine, tunicamycin and hydrogen peroxide will be examined using cell viability assays. | up to 2 years | |
Secondary | SMN2 copy number | SMN2 copy number will be determined by quantitative PCR of genomic DNA isolated from established fibroblast lines. | up to 2 years |
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