Monogenic DisordersOPERANDONCT03763864
Development of In Vitro Functional Assays From Primary Cells of Patients With Monogenic Diseases
A study testing Skin Biopsy in people with Monogenic Disorders, run by Apteeus at 1 site in France.
Trial summary
The objective of this project is to build a collection of biological samples consisting of fibroblasts and primary keratinocytes from patients with orphan monogenic diseases and to use these cells in the customization of functional tests. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Monogenic Disorders
- What is being tested?
- Skin Biopsy
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 100 participants
- Where
- 1 siteFrance
- Study dates
- 6 Sep 2017to 6 Sep 2025
- Phase
- Interventional
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patients with an orphan monogenic disease (without any satisfactory therapeutic option).
- Patients with a pathology whose functional cause can be demonstrated by APTEEUS technologies in skin cells or cells derived from them.
Who cannot join
- Patients whose molecular cause is not clearly identified.
- Patients contraindicated for skin biopsy.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Développement de Tests Fonctionnels in Vitro à Partir de Cellules Primaires de Patients Atteints de Maladies Monogéniques
The objective of this project is to build a collection of biological samples consisting of fibroblasts and primary keratinocytes from patients with orphan monogenic diseases and to use these cells in the customization of functional tests. The miniaturized tests we are setting up make it possible to distinguish patient cells from control cells. They can be used to test molecules or for the development of diagnostic tests.
As part of the research protocol, the investigating physicians will be able to perform a skin biopsy on their patient included in the study. APTEEUS will isolate fibroblasts and keratinocytes and ensure their preservation. As part of the project, it is planned to preserve the biological samples collected and to preserve the collection after the end of the study. Skin fibroblasts and keratinocytes that are isolated from the biopsy are cells that can be preserved and amplified. They are a material of choice for the functional study of many monogenic diseases.
Read more
This study will allow the adaptation of tools dedicated to the functional study of monogenic diseases in order to help in the research and development of new treatments for these diseases, but also to highlight and explain the inter-individual variability of symptoms and responses to treatments, and finally, to help in the development of diagnostic methods.
Patients with orphan monogenic diseases whose genetic defect has been confirmed and for whom the study of the disease can be performed on fibroblasts, keratinocytes or cells derived from them, may be included in the study. Subjects, after information and consent, will undergo a skin biopsy. The sample will be sent directly to the promoter company APTEEUS, which will carry out all in vitro developments. The fibroblasts and keratinocytes will be preserved and will constitute a collection of cells "orphan monogenic diseases". The samples can be reused for new research in the same field.
- Conditions
- Monogenic Disorders
- Being tested
- Skin Biopsy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Skin BiopsyOther
Skin Biopsy
| Study group | Role | What they receive |
|---|---|---|
| Inherited disorders | Other | Not described Receives: Other: Skin Biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Measurement of the residual enzymatic activity on the isolated fibroblast and or keratinocytes using appropriate methodology.
The function of the impaired enzyme will be assessed by measuring in vitro the residual enzymatic activity using labeled substrate. Technologies used are based on mass spectrometry. Residual enzymatic activity will be expressed as a percentage of normal controls.
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Dec 2018
- Study start6 Sep 2017
- Primary completion6 Sep 2025 (estimated)
- Study completion6 Sep 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Monogenic DisordersStudies 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Apteeus
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03763864
- Sponsor's protocol ID
- APTEEUS001
- Acronym
- OPERANDO
- Status last verified
- Aug 2024
- First submitted
- 29 Nov 2018
- Last updated
- 2 Aug 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Aug 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Développement de Tests Fonctionnels in Vitro à Partir de Cellules Primaires de Patients Atteints de Maladies Monogéniques
- ClinicalTrials.gov ID
- NCT03763864
- Acronym / sponsor ID
- OPERANDO / APTEEUS001
- Conditions
- Monogenic Disorders
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- ApteeusIndustry (pharma, biotech, devices)
- Study start
- 6 Sep 2017 (actual)
- Primary completion
- 6 Sep 2025 (estimated)
- Study completion
- 6 Sep 2025 (estimated)
- First posted
- 4 Dec 2018 (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.
The objective of this project is to build a collection of biological samples consisting of fibroblasts and primary keratinocytes from patients with orphan monogenic diseases and to use these cells in the customization of functional tests. The miniaturized tests we are setting up make it possible to distinguish patient cells from control cells. They can be used to test molecules or for the development of diagnostic tests.
As part of the research protocol, the investigating physicians will be able to perform a skin biopsy on their patient included in the study. APTEEUS will isolate fibroblasts and keratinocytes and ensure their preservation. As part of the project, it is planned to preserve the biological samples collected and to preserve the collection after the end of the study. Skin fibroblasts and keratinocytes that are isolated from the biopsy are cells that can be preserved and amplified. They are a material of choice for the functional study of many monogenic diseases.
This study will allow the adaptation of tools dedicated to the functional study of monogenic diseases in order to help in the research and development of new treatments for these diseases, but also to highlight and explain the inter-individual variability of symptoms and responses to treatments, and finally, to help in the development of diagnostic methods.
Patients with orphan monogenic diseases whose genetic defect has been confirmed and for whom the study of the disease can be performed on fibroblasts, keratinocytes or cells derived from them, may be included in the study. Subjects, after information and consent, will undergo a skin biopsy. The sample will be sent directly to the promoter company APTEEUS, which will carry out all in vitro developments. The fibroblasts and keratinocytes will be preserved and will constitute a collection of cells "orphan monogenic diseases". The samples can be reused for new research in the same field.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Inherited disorders | Other | Other: Skin Biopsy |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (2 listed)
- Patients with an orphan monogenic disease (without any satisfactory therapeutic option).
- Patients with a pathology whose functional cause can be demonstrated by APTEEUS technologies in skin cells or cells derived from them.
Key exclusion criteria (2 listed)
- Patients whose molecular cause is not clearly identified.
- Patients contraindicated for skin biopsy.
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 BiopsySkin Biopsy | Other | Inherited disorders |
Primary outcome
Measurement of the residual enzymatic activity on the isolated fibroblast and or keratinocytes using appropriate methodology.
Time frame: 6 months
The function of the impaired enzyme will be assessed by measuring in vitro the residual enzymatic activity using labeled substrate. Technologies used are based on mass spectrometry. Residual enzymatic activity will be expressed as a percentage of normal controls.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Aug 2024.
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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.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Skin Biopsy in people with Monogenic Disorders, run by Apteeus at 1 site in France.
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 2 inclusion and 2 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 2 Aug 2024. 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 France. 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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Measurement of the residual enzymatic activity on the isolated fibroblast and or keratinocytes using appropriate methodology. (time frame: 6 months). 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 2 Aug 2024.