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

Inborn Errors of Metabolism Clinical Trial

— iPSC-IEM  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04097275
• Other study ID #: iPSC-IEM-2019
• Status: Recruiting
• Start date: August 1, 2019
• Est. completion date: August 1, 2024

Study information

• Verified date: February 2023
• Source: CENTOGENE GmbH Rostock
• Contact: Peter Bauer, Prof.
• Phone: +49 30767584871
• Email: Peter.Bauer[@]centogene.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1000
• Est. completion date: August 1, 2024
• Est. primary completion date: August 1, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 2 Months to 50 Years

Eligibility

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

Related Conditions & MeSH terms

• Inborn Errors of Metabolism
• Metabolism, Inborn Errors

Intervention

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.
• 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

Locations

Country	Name	City	State
Pakistan	Children Hospital and Institute of Child Health	Lahore

Sponsors (1)

Lead Sponsor	Collaborator
CENTOGENE GmbH Rostock

Country where clinical trial is conducted

Pakistan, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Generation of patient-specific induced pluripotent stem cells and then differentiate them into neural cells.	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.	1 day