Inborn Errors of Metabolism
Conditions
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.
Interventions
OTHERSkin 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.
OTHERWithdraw 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
Sponsors
CENTOGENE GmbH Rostock
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
2 Months to 50 Years
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Generation of patient-specific induced pluripotent stem cells and then differentiate them into neural cells. | 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. |
Countries
Pakistan
Contacts
Primary ContactPeter Bauer, Prof.
Outcome results
None listed