Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Inborn Errors of Metabolism, an International, Multicenter Study
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Sponsor
- Enrollment
- 1,000
- Locations
- 1
- Primary Endpoint
- Generation of patient-specific induced pluripotent stem cells and then differentiate them into neural cells.
Study Overview
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.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Cross Sectional
Eligibility Criteria
- Ages
- 2 Months to 50 Years (Child, Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
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
Outcomes
Primary Outcomes
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.
Secondary Outcomes
No secondary outcomes reported