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

NCT ID: NCT04097275

Last Updated: 2023-02-10

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 1000 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2019-08-01
• Study Completion Date: 2024-08-01

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.

Conditions

Inborn Errors of Metabolism

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: CROSS_SECTIONAL

Study Groups

Participants with an Inborn Error of Metabolism

Skin biopsy

Intervention Type: OTHER

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

Intervention Type: OTHER

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

Interventions

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.

Intervention Type: 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

Intervention Type: OTHER

Eligibility Criteria

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

• Minimum Eligible Age: 2 Months
• Maximum Eligible Age: 50 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

CENTOGENE GmbH Rostock

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Peter Bauer, Prof.

Role: STUDY_CHAIR

Centogene GmbH

Locations

Children Hospital and Institute of Child Health

Lahore, , Pakistan

Site Status: RECRUITING

Countries

Pakistan

Central Contacts

Peter Bauer, Prof.

Role: CONTACT

Peter.Bauer@centogene.com

+49 30767584871

Facility Contacts

Huma Cheema

Role: primary

Other Identifiers

iPSC-IEM-2019

Identifier Type: -

Identifier Source: org_study_id