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

Sponsor

CENTOGENE GmbH Rostock (Industry)

Overall Status

Recruiting

CT.gov ID

NCT04097275

Collaborator

(none)

1,000

Enrollment

Location

Anticipated Duration (Months)

16.7

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Inborn Errors of Metabolism	Other: Skin biopsy Other: Withdraw of blood

Study Design

Study Type:

Observational

Anticipated Enrollment :

1000 participants

Observational Model:

Cohort

Time Perspective:

Cross-Sectional

Official Title:

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

Actual Study Start Date :

Aug 1, 2019

Anticipated Primary Completion Date :

Aug 1, 2021

Anticipated Study Completion Date :

Aug 1, 2024

Arms and Interventions

Arm	Intervention/Treatment
Participants with an Inborn Error of Metabolism	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

Arm

Intervention/Treatment

Participants with an Inborn Error of Metabolism

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

Outcome Measures

Primary Outcome Measures

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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

2 Months to 50 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Children Hospital and Institute of Child Health	Lahore		Pakistan

Sponsors and Collaborators

CENTOGENE GmbH Rostock

Investigators

Study Chair: Peter Bauer, Prof., Centogene GmbH

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

CENTOGENE GmbH Rostock

ClinicalTrials.gov Identifier:

NCT04097275

Other Study ID Numbers:

iPSC-IEM-2019

First Posted:

Sep 20, 2019

Last Update Posted:

May 17, 2021

Last Verified:

May 1, 2021

Individual Participant Data (IPD) Sharing Statement:

Plan to Share IPD:

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Additional relevant MeSH terms:

Metabolism, Inborn Errors

Study Results

No Results Posted as of May 17, 2021