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NCT03612310
Developing Protocols for Modelling of Genetic Diseases Using Induced Pluripotent Stem Cells
trial testing Skin biopsy/Urine Collection/Blood Sample Collection in Genetic Disease in 3,000 participants. Not yet recruiting.
1 July 2020
Quick facts
| Lead sponsor | Kevin Bruce |
|---|---|
| Status | Not yet recruiting |
| Study type | OBSERVATIONAL |
| Enrollment | 3,000 |
| Start date | 1 November 2018 |
| Primary completion | 1 July 2020 |
| Estimated completion | 1 July 2028 |
Drugs / interventions tested
- Skin biopsy/Urine Collection/Blood Sample Collection
Conditions studied
- Genetic Disease — all drugs for Genetic Disease →
Sponsor
Kevin Bruce
Who can join
Adults 1 to 120, any sex, with Genetic Disease. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
Recent advances have shown that cells from human blood, skin and urine samples can be reprogrammed to become stem cells. These are called induced Pluripotent Stem Cells (iPSCs) and share many characteristics with embryonic stem cells, including an unlimited capacity for proliferation and the potential to become any cell in the body. Beneficially, the use of iPSCs avoids the ethical difficulties which surround embryonic stem cells and allows generation of iPSC lines which are disease representative. For example, we could take skin samples from an individual diagnosed with Huntington's disease and their unaffected sibling and using this technology, generate iPSC lines from both individuals. Using these iPSCs, we could produce disease affected cell populations from the affected and unaffected individuals, use these cells to research why specific cell populations are affected by disease and test new treatments to combat disease progression, essentially producing a 'disease in a dish'. This is just one example of many for which this technology could be applied. We can also utilise gene-editing techniques to generate isogenic controls or insert disease related mutations to assess disease phenotype. Although generation of iPSC lines has been robustly proven across multiple disease backgrounds, many aspects of their downstream use still remain to be determined. Particularly, robust protocols for directing iPSCs towards cell fates such as neurons or blood cells must be developed to fully realise application of iPSCs in disease modelling and drug screening. This study involves the collection of human blood, skin or urine samples from subjects bearing a range of genetic diseases alongside those from individuals who have not been diagnosed with a disease, as controls. These samples will be used to generate iPSC lines for development of differentiation and disease phenotyping protocols.
Publications & conference data
No peer-reviewed publications indexed yet for this trial.
Verify or expand the search:
- PubMed search for NCT03612310
- Europe PMC full search
- ASCO Meeting Library
- ESMO Meeting Library
- bioRxiv preprints
- medRxiv preprints
- Google Scholar
Related trials
Other recruiting trials for Genetic Disease
Currently open trials in the same condition.
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- NCT06435468 — Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases · NA · recruiting
- NCT06821386 — N-Care Project: Enhancing Asian-Pacific Collaboration · recruiting
- NCT07365254 — Accurate Assessment and Intervention Research on Newborn Whole Genome Sequencing and Genetic Disease Risk · recruiting
- NCT06725901 — Pediatric Neurogenetic Diagnosis Support Platform · NA · recruiting
Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT03612310 (US National Library of Medicine, public domain)
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by Kevin Bruce
- Last refreshed: 2 August 2018
Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT03612310.
Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing