NCT04097275

Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Inborn Errors of Metabolism (iPSC-IEM)

Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Inborn Errors of Metabolism, an International, Multicenter Study

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 1,000 (estimated)
• Sponsor: CENTOGENE GmbH Rostock · Industry
• Sex: All
• Age: 2 Months – 50 Years
• Healthy volunteers: Not accepted

Summary

Human induced pluripotent stem cells (iPSCs), are reprogrammed from somatic cells that can self-renew indefinitely and produce different types of cells. They provide human model cell lines for orphan drug development. It is the goal of this study to define new cellular disease models for Inborn Erors of Metabolism, as enabling tools for both drug discovery and development.

Conditions

• Inborn Errors of Metabolism

Interventions

Type	Name	Description
OTHER	Skin biopsy	The biopsy will be performed by means of punch biopsy (diameter 2.5 mm) under local anesthesia on a forearm. The skin biopsy will be transferred to sterile cell culture Dulbecco's Modified Eagle Medium (DMEM) 1% Penicillin 1% Streptomycin 1% Gentamycin medium 10% FBS.
OTHER	Withdraw of blood	Blood will be collected in: * 1 x Ethylene Diamine Tetraacetic Acid (EDTA) tube (7.5 ml) - for further leucocytes extraction that are a potential backup for new iPS cell lines generation * 1 x Citrate Phosphate Dextrose Adenine (CPDA) tube (8.5 ml) - for EBV-transformed lymphoblastoid cell lines generation * 1 x Dried Blood Spot DBS-filtercard, called CentoCard® - for quality control confirmatory genetic testing

Timeline

• Start date: 2019-08-01
• Primary completion: 2024-08-01
• Completion: 2024-08-01
• First posted: 2019-09-20
• Last updated: 2023-02-10

Locations

1 site across 1 country: Pakistan