Inborn Errors of MetabolismiPSC-IEMNCT04097275
Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Inborn Errors of Metabolism (iPSC-IEM)
An observational study of Inborn Errors of Metabolism, run by CENTOGENE GmbH Rostock at 1 site in Pakistan.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 months to 50 years
- Conditions the study is for
- Inborn Errors of Metabolism
- What is being tested?
- Skin biopsy and Withdraw of blood
- How many people
- 1,000 participants
- Where
- 1 sitePakistan
- Study dates
- 1 Aug 2019to 1 Aug 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 months to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Participants with an Inborn Error of Metabolism
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
Pakistan1 site, 1 recruiting
- Recruiting
Children Hospital and Institute of Child Health
Lahore
Huma Cheema
About this study
Official title: 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.
- Conditions
- Inborn Errors of Metabolism
- Being tested
- Skin biopsy, Withdraw of blood
- Medical subject headings
- Metabolism, Inborn Errors
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Skin biopsyOther
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.
Withdraw of bloodOther
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
| Study group | Role | What they receive |
|---|---|---|
| Participants with an Inborn Error of Metabolism | Not described Receives: Other: Skin biopsy; Other: Withdraw of blood |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Sep 2019
- Study start1 Aug 2019
- Primary completion1 Aug 2024 (estimated)
- Study completion1 Aug 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inborn Errors of MetabolismStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- CENTOGENE GmbH Rostock
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Peter Bauer, Prof., Study chair, Centogene GmbH
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04097275
- Sponsor's protocol ID
- iPSC-IEM-2019
- Acronym
- iPSC-IEM
- Status last verified
- Feb 2023
- First submitted
- 23 Aug 2019
- Last updated
- 10 Feb 2023
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Feb 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Inborn Errors of Metabolism, an International, Multicenter Study
- ClinicalTrials.gov ID
- NCT04097275
- Acronym / sponsor ID
- iPSC-IEM / iPSC-IEM-2019
- Conditions
- Inborn Errors of Metabolism
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- CENTOGENE GmbH RostockIndustry (pharma, biotech, devices)
- Study start
- 1 Aug 2019 (actual)
- Primary completion
- 1 Aug 2024 (estimated)
- Study completion
- 1 Aug 2024 (estimated)
- First posted
- 20 Sep 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants with an Inborn Error of Metabolism | – | Other: Skin biopsy, Other: Withdraw of blood |
Who may qualify
- Ages
- 2 months to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Participants with an Inborn Error of Metabolism
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Skin biopsyThe 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 | Participants with an Inborn Error of Metabolism |
| Withdraw of bloodBlood 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 | Other | Participants with an Inborn Error of Metabolism |
Primary outcome
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.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Feb 2023.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Peter Bauer, Prof. study chair
Centogene GmbH
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Inborn Errors of Metabolism, run by CENTOGENE GmbH Rostock at 1 site in Pakistan.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 10 Feb 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Pakistan. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Peter Bauer, Prof. (+49 30767584871, Peter.Bauer@centogene.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Generation of patient-specific induced pluripotent stem cells and then differentiate them into neural cells. (time frame: 1 day). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Feb 2023.