Human Tissue Sampling for Generation of Stem Cells
R
Rick Nelson, MD
Primary Investigator
Enrolling By Invitation
12-95 years
All
Phase
N/A
10 participants needed
2 Locations
Brief description of study
The study of genetic hearing loss has been limited to animal models due to the difficulty accessing human tissue within the inner ear. We can now generate all of the components of the human inner ear in a culture dish using human stem cells from patients with known genetic type hearing loss by sampling the skin and deriving induced pluripotent stem cells (iPSCs). Those iPSCs can then be used to generate models of the human inner ear called ‘organoids” for scientific study into how those genes cause hearing loss and test compounds that may prevent or treat the hearing loss.
Detailed description of study
1. The main goal is to successfully obtain iPSCs to successfully generate inner ear organoids.
2. Obtain 4 mm skin punch from patients with documented genetic hearing loss. Specifically, patients with mutations in the TMPRSS3 gene.
3. The overall research hypothesis is that TMPRSS3 protein regulates cellular pathways related to tight junction formation through proteolytic activity. Through the use of human derived iPSCs (indued pluripotent stem cells) obtained from patients with bi-allelic mutations in TMPRSS3, we are able to generate human inner ear organoids that contain sensory hair cells, support cells and neurons. Using these in vitro models we can perform molecular, cellular, biochemical studies to elucidate the pathophysiology of TMPRSS3-related deafness.
2. Obtain 4 mm skin punch from patients with documented genetic hearing loss. Specifically, patients with mutations in the TMPRSS3 gene.
3. The overall research hypothesis is that TMPRSS3 protein regulates cellular pathways related to tight junction formation through proteolytic activity. Through the use of human derived iPSCs (indued pluripotent stem cells) obtained from patients with bi-allelic mutations in TMPRSS3, we are able to generate human inner ear organoids that contain sensory hair cells, support cells and neurons. Using these in vitro models we can perform molecular, cellular, biochemical studies to elucidate the pathophysiology of TMPRSS3-related deafness.
Eligibility of study
You may be eligible for this study if you meet the following criteria:
- Conditions: Hearing loss
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Age: Between 12 Month - 95 Years
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Gender: All
Inclusion Criteria:
- 1. Patients with gene mutation causing hearing loss.2. Any patient with homozygous (2 copies) of the mutation in TMPRSS3 gene and documented hearing loss.3. Patients 12-months old to 95-year old’s
Exclusion Criteria:
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2. patients who have epidermolysis.3. Patients with conditions such as eczema or psoriasis.4. Infants younger than 12 months and adults older than 95 years old.
Updated on
01 Aug 2024.
Study ID: 14534; OTHN-IIR-STEM-CELL
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