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

Recruiting

• Conditions: Inborn Errors of Metabolism
• Interventions: Other: Skin biopsy; Other: Withdraw of blood

• Registration Number: NCT04097275
• Lead Sponsor: CENTOGENE GmbH Rostock

Brief 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2019-08-01
• Study First Submitted: 2019-08-23
• Study First Submitted QC: 2019-09-18
• Study First Posted: 2019-09-20
• Status Verified: 2023-02
• Last Update Submitted: 2023-02-09
• Last Update Posted: 2023-02-10
• Primary Completion: 2024-08-01
• Study Completion: 2024-08-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1000

Inclusion Criteria

• Informed consent is obtained from the participant or from the parent/ legal guardian
• The participant is aged between 2 months and 50 years
• The diagnosis of an Inborn Error of Metabolism (IEM) is genetically confirmed by Centogene
• The participant is a first-degree or a second-degree relative of an individual with Inborn Error of Metabolism (IEM) genetically confirmed by Centogene

Exclusion Criteria

• Inability to provide informed consent
• The participant is younger than 2 months or older than 50 years
• The diagnosis of an Inborn Error of Metabolism (IEM) is not genetically confirmed by Centogene and
• The participant is not a first-degree or a seconddegree relative of an individual with Inborn Error of Metabolism (IEM) genetically confirmed by Centogene
• Previously enrolled in the study

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Participants with an Inborn Error of Metabolism	Skin biopsy	-
Participants with an Inborn Error of Metabolism	Withdraw of blood	-

Primary Outcome Measures

Name	Time	Method
Generation of patient-specific induced pluripotent stem cells and then differentiate them into neural cells.	1 day	To generate patient-specific induced pluripotent stem cells and then differentiate them into neural cells, or other specific cell according to the Inborn Error of Metabolism, to study the misfolded proteins in endoplasmic reticulum, their role in untranslated protein response, and possible mechanisms to shuttle the misfolded proteins into lysosomes.

Trial Locations

Locations (1)

Children Hospital and Institute of Child Health; 🇵🇰 Lahore, Pakistan