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

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ClinicalTrials.gov Identifier: NCT04097275
Recruitment Status : Recruiting
First Posted : September 20, 2019
Last Update Posted : September 20, 2019
Sponsor:
Information provided by (Responsible Party):
Centogene AG Rostock

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
Inborn Errors of Metabolism Other: Skin biopsy Other: Withdraw of blood

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Study Type : Observational
Estimated 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 : August 1, 2019
Estimated Primary Completion Date : August 1, 2020
Estimated Study Completion Date : August 1, 2024

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




Primary Outcome Measures :
  1. To generate 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.



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Ages Eligible for Study:   2 Months to 50 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Participants with an Inborn Error of Metabolism
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04097275


Contacts
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Contact: Volha Sckrahina, Dr. +49 381 80 113 594 Volha.Skrahina@centogene.com

Locations
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Germany
Centogene AG Active, not recruiting
Rostock, Germany, 18055
Pakistan
Children Hospital and Institute of Child Health Recruiting
Lahore, Pakistan
Contact: Huma Cheema         
Sponsors and Collaborators
Centogene AG Rostock

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Responsible Party: Centogene AG Rostock
ClinicalTrials.gov Identifier: NCT04097275     History of Changes
Other Study ID Numbers: iPSC-IEM-2019
First Posted: September 20, 2019    Key Record Dates
Last Update Posted: September 20, 2019
Last Verified: August 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases