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

NCT04097275 | Unknown DMC

• 1 other identifier: iPSC-IEM-2019
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

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

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

Participants with an Inborn Error of Metabolism

Other: Skin biopsy; Other: Withdraw of blood

Interventions

Skin biopsy 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.

Participants with an Inborn Error of Metabolism

Withdraw of blood 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

Participants with an Inborn Error of Metabolism

Eligibility Criteria

• Age: 2 Months - 50 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Participants with an Inborn Error of Metabolism

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• CENTOGENE GmbH Rostock: lead

Study Sites (1)

Children Hospital and Institute of Child Health

Lahore, Pakistan

RECRUITING

MeSH Terms

Conditions

Metabolism, Inborn Errors

Condition Hierarchy (Ancestors)

Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Peter Bauer, Prof.

  Centogene GmbH

  STUDY CHAIR

Central Study Contacts

Peter Bauer, Prof.

CONTACT

+49 30767584871; Peter.Bauer@centogene.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 23, 2019
• First Posted: September 20, 2019
• Study Start: August 1, 2019
• Primary Completion: August 1, 2024
• Study Completion: August 1, 2024
• Last Updated: February 10, 2023

Record last verified: 2023-02

Data Sharing

• IPD Sharing: Will not share

Locations

PA (1)