MedTrace Logo

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

NCT04097275 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 1000

Last updated 2023-02-10

No results posted yet for this study

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

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

Sponsors & Collaborators

  • CENTOGENE GmbH Rostock

    lead INDUSTRY

Principal Investigators

  • Peter Bauer, Prof. · Centogene GmbH

Eligibility

Min Age
2 Months
Max Age
50 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-08-01
Primary Completion
2024-08-01
Completion
2024-08-01

Countries

  • Pakistan

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04097275 on ClinicalTrials.gov