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

February 9, 2023 updated by: CENTOGENE GmbH Rostock

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

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 Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Anticipated)

1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Pakistan
      • Lahore, Pakistan
        • Recruiting
        • Children Hospital and Institute of Child Health
        • Contact:
          • Huma Cheema

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 months to 50 years (ADULT, CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Participants with an Inborn Error of Metabolism

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Generation of patient-specific induced pluripotent stem cells and then differentiate them into neural cells.
Time Frame: 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.
1 day

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

CENTOGENE GmbH Rostock

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

August 1, 2019

Primary Completion (ANTICIPATED)

August 1, 2024

Study Completion (ANTICIPATED)

August 1, 2024

Study Registration Dates

First Submitted

August 23, 2019

First Submitted That Met QC Criteria

September 18, 2019

First Posted (ACTUAL)

September 20, 2019

Study Record Updates

Last Update Posted (ACTUAL)

February 10, 2023

Last Update Submitted That Met QC Criteria

February 9, 2023

Last Verified

February 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • iPSC-IEM-2019

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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