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

CENTOGENE GmbH Rostock1,000 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

1,000

Conditions

Inborn Errors of Metabolism

Interventions

Skin biopsyOTHER

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 bloodOTHER

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

Eligibility

Sex: ALLMin age: 2 MonthsMax age: 50 Years

Medical Language ↔ Plain English

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

Locations (1)

Children Hospital and Institute of Child Health

Lahore, Pakistan

RECRUITING

Outcomes

Primary Outcomes

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.

Time frame: 1 day

Central Contacts

Peter Bauer, Prof.

CONTACT

+49 30767584871 Peter.Bauer@centogene.com

Data from ClinicalTrials.gov

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