Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic Disorders
New Gene Therapy Approach Explores Epigenome Editing for Kabuki Syndrome
Plain English Summary
Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic Disorders is a Not Applicable clinical trial sponsored by University Hospital, Montpellier studying Kabuki Syndrome 1. This study tests a new gene therapy technique called epigenome editing to potentially treat Kabuki Syndrome. It is for patients diagnosed with Kabuki Syndrome who have a confirmed genetic mutation. Participation involves providing cells from patients and their parents for laboratory analysis and potential cell reprogramming. Currently, there are no specific gene therapies for Kabuki Syndrome, making this research a potential alternative. The trial aims to enroll 8 participants.
Official Summary
Starting from isolating primary cells from affected patients, an in vitro disease model system for KS will be developed. Using alternative strategies to obtain patient-derived mesenchymal stem cells, an integrative approach will be adopted for defining both the transcriptional and epigenetic regulatory networks perturbed upon the loss of function of KMT2D. Combining the self-renewal potential of mesenchymal stem cells (MSCs) with CRISPR/Cas9 technology, an epigenome editing approach as therapeutic strategy to rescue the activity of MLL4 will be developed. A step forward is expected towards the understanding of those the molecular mechanisms governing the aetiology of Kabuki Syndrome (KS) and that the proposed in vitro disease model will provide to the scientific community an experimental system to study the KS. Importantly, the aim is to define the molecular bases of KS and to develop a therapeutic strategy that could ameliorate some of the abnormalities associated with KS.
Who Can Participate
Here is what you need to know about eligibility for this trial. Patients with a confirmed Kabuki Syndrome diagnosis due to a KMT2D gene mutation can join. Parents of the patient must have the same sex as their child. Participants must be covered by the French social security system. Individuals with significant bleeding issues (like low platelet counts below 20,000) or genetic skin conditions affecting healing cannot participate. This trial is studying Kabuki Syndrome 1, so participants generally need a confirmed diagnosis.
What They're Measuring
The primary outcome measures the success of growing and maintaining patient cells in the lab, which is a crucial first step for developing and testing the gene therapy. The specific primary outcome measures are: success rate of fibroblasts culture (one year maximum after inclusion). These endpoints are how researchers determine whether the treatment is effective and will form the basis of any future regulatory submissions.
About This Phase
This study does not have a traditional clinical phase designation. It may be an observational study that follows patients without intervening in their care, an expanded access or compassionate use program, or other non-interventional research. These studies contribute valuable data about disease progression, treatment patterns, and patient outcomes.
Why This Trial Matters
This trial matters because it explores a novel gene therapy strategy to address the underlying molecular causes of Kabuki Syndrome, a rare genetic disorder with limited treatment options. This research targets Kabuki Syndrome 1, where improved treatment options are needed.
Investor Insight
This early-stage research in a rare genetic disorder represents a significant investment in novel gene editing technologies, with potential applications beyond Kabuki Syndrome if successful.
Is This Trial Right for Me?
Ask your doctor about the specific genetic mutation identified in your child and how it relates to Kabuki Syndrome. Understand that this is a laboratory-based study, and participation involves providing cell samples for research, not direct treatment for the patient at this stage. Be prepared for the process of obtaining consent and providing necessary documentation for social security affiliation. The trial is being conducted at 1 site. Always discuss clinical trial participation with your healthcare provider before making any decisions. This information is for educational purposes only and is not medical advice.
AI-generated analysis for educational purposes only. This is not medical advice. Discuss clinical trial participation with your doctor. Data sourced from ClinicalTrials.gov.
Study Design
- Study Type: OBSERVATIONAL
- Enrollment: 8 participants
Interventions
- GENETIC: Intervention on primary cultured cells — The intervention includes primary cultured cells, reprograming them into mesenchymal stem cells and CRISPR/Case9 gene therapy treatment on patients' cells
Primary Outcomes
- success rate of fibroblasts culture (one year maximum after inclusion)
Secondary Outcomes
- success rate of turning fibroblasts into mesenchymal stem cells (one year maximum after inclusion)
- success rate of CRISPR/Case9 gene therapy treatment on patients' cells (one year maximum after inclusion)
Full Eligibility Criteria
Inclusion Criteria: 1. For the patient = to have a Kabuki syndrome authenticated by molecular genetics (proof of mutation in the KMT2D gene) 2. For parents = having the same sex as your child 3. To be affiliated to a French social security system 4. Authorize the participation of the study Exclusion Criteria: 1. Not be affiliated to a social security scheme (CMU is included) 2. Existence of a significant coagulation ruble (especially thrombocytopenic purpura in Kabuki patients with platelet counts \< 20,000 Units). 3. Genetic skin disease responsible for poor healing 4. Refusal to participate in the child's and/or parent's study
Trial Locations
- Arnaud de villeneuve Hospital, Montpellier, Herault, France
Frequently Asked Questions
What is clinical trial NCT03855631?
NCT03855631 is a Not Applicable OBSERVATIONAL study titled "Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic Disorders." It is currently completed and is sponsored by University Hospital, Montpellier. The trial targets enrollment of 8 participants.
What conditions does NCT03855631 study?
This trial investigates treatments for Kabuki Syndrome 1. The primary condition under study is Kabuki Syndrome 1.
What treatments are being tested in NCT03855631?
The interventions being studied include: Intervention on primary cultured cells (GENETIC). The intervention includes primary cultured cells, reprograming them into mesenchymal stem cells and CRISPR/Case9 gene therapy treatment on patients' cells
What does Not Applicable mean for NCT03855631?
This study does not have a defined clinical phase. It may be an observational study, expanded access program, or other non-interventional research.
What is the current status of NCT03855631?
This trial is currently "Completed." It started on 2020-09-28. The estimated completion date is 2020-11-27.
Who is sponsoring NCT03855631?
NCT03855631 is sponsored by University Hospital, Montpellier. The sponsor is responsible for funding, designing, and overseeing the clinical trial.
How many people can participate in NCT03855631?
The trial aims to enroll 8 participants. The trial status is completed.
How is NCT03855631 designed?
This is a observational study.
What are the primary outcomes being measured in NCT03855631?
The primary outcome measures are: success rate of fibroblasts culture (one year maximum after inclusion). These are the main endpoints researchers use to determine whether the treatment is effective.
Where is NCT03855631 being conducted?
This trial is being conducted at 1 site, including Montpellier, Herault (France).
Where can I find official information about NCT03855631?
The official record for NCT03855631 is available on ClinicalTrials.gov at https://clinicaltrials.gov/study/NCT03855631. This government database provides the most up-to-date and detailed information about the trial.
What is NCT03855631 testing in simple terms?
This study tests a new gene therapy technique called epigenome editing to potentially treat Kabuki Syndrome. It is for patients diagnosed with Kabuki Syndrome who have a confirmed genetic mutation.
Why is this trial significant?
This trial matters because it explores a novel gene therapy strategy to address the underlying molecular causes of Kabuki Syndrome, a rare genetic disorder with limited treatment options.
What are the potential risks of participating in NCT03855631?
The primary risk is related to the cell culture process itself, which is a laboratory procedure and not directly performed on the patient. Potential risks associated with the CRISPR/Cas9 technology, if applied directly in future treatments, could include off-target edits or unintended genetic changes. For patients with pre-existing bleeding disorders, there's a risk associated with blood collection for cell samples. As with any clinical trial, participants are closely monitored and can withdraw at any time.
Should I consider participating in NCT03855631?
Ask your doctor about the specific genetic mutation identified in your child and how it relates to Kabuki Syndrome. Understand that this is a laboratory-based study, and participation involves providing cell samples for research, not direct treatment for the patient at this stage. Be prepared for the process of obtaining consent and providing necessary documentation for social security affiliation. Always discuss clinical trial participation with your healthcare provider to determine if it is appropriate for your specific situation.
What does NCT03855631 signal from an investment perspective?
This early-stage research in a rare genetic disorder represents a significant investment in novel gene editing technologies, with potential applications beyond Kabuki Syndrome if successful. This is a Not Applicable trial, which is in early development stages.
What happens if the treatment in this trial doesn't work?
Participation involves providing cells from patients and their parents for laboratory analysis and potential cell reprogramming. Participants in clinical trials always have the right to withdraw and pursue alternative treatments. The study team will help transition patients to other available options.
Related Conditions
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This analysis is AI-generated and does not constitute medical advice. Always consult your healthcare provider before making decisions about clinical trial participation.