CF
Stories
CF Stories
Example Post Title Number 3: Finding the Cure for the Unknown and Storytelling
Example Post Title Number 2: Finding the Future
Mel and Kate Kotlyar’s Journey with Cystic Fibrosis
CF Organizations
& Support
CF Organizations
& Support
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FAQs
FAQs
How can I get involved in genetic medicine research?
If you want to get involved in genetic medicine research, here are some ways to get started:
- Explore Clinical Trials
- ClinicalTrials.gov: This is a comprehensive global database of clinical studies where you can search for trials specifically by filtering for “cystic fibrosis” and other relevant keywords.
- Cystic Fibrosis Foundation’s Clinical Trial Finder: This platform allows you to search for clinical trials based on their location and the type of research you’re interested in. It often includes studies on genetic therapies, gene editing, and mRNA treatments.
- Consult with Your CF Care Team
- Speak with your physician or care team. They can provide personalized guidance based on your medical history and trials that might be a good fit.
- CF clinics are often informed about upcoming or ongoing research, and they can help connect patients with appropriate clinical trials.
- Join Patient Registries
- Emily’s Entourage’s Patient Database: Emily’s Entourage maintains a global patient database of individuals with CF who do not benefit from existing CFTR modulator therapies due to ineligible genetic mutations, side effects from CFTR modulators, or suboptimal response to CFTR modulators. The database, called Emily’s Entourage CF Clinical Trial Connect (CTC), allows these individuals to contribute their data and become informed of relevant clinical research and trials. It also accelerates the development of lifesaving therapies by offering faster, more targeted clinical trial recruitment.
- Connect with Research Institutions or Companies
- Reach out to biotech companies focused on genetic therapies for CF. For instance, companies working on mRNA treatments may be recruiting for early-stage trials. ReCode Therapeutics and other biopharma companies developing genetic therapies for CF may offer avenues for participation. Contact [email protected] to learn more about a Phase 1b study evaluating RCT2100, an investigational inhaled mRNA therapy for people with CF who have mutations in the CFTR gene that do not respond to CFTR modulators.
- Advocacy Groups
- Cystic Fibrosis Research Community: There are advocacy groups and communities that engage in research partnerships and collaborations. These groups often provide information about the latest treatments and clinical trials and offer resources on how to get involved.
What genetic therapies are available for those who can’t take CFTR modulators?
For people with CF who cannot take CFTR modulators, either because their mutations don’t respond to these therapies or they experience adverse effects, there are emerging genetic therapies under development that may provide alternative options. These therapies aim to address the root cause of CF.
Many of these genetic therapies are still in clinical or preclinical stages, so they are not yet approved or widely available as treatments. However, they offer hope for patients who cannot benefit from CFTR modulators, particularly for those with rare mutations like nonsense mutations.
- mRNA-Based Therapies: One of the most promising therapies under development is messenger RNA (mRNA) therapy, which works by delivering synthetic messenger mRNA to the body’s cells, instructing them to produce the CFTR protein, which is faulty or missing in people with CF. ReCode Therapeutics is developing RCT2100, an inhaled mRNA therapy designed to deliver mRNA directly to the lungs to help cells create a functional CFTR protein, targeting the root cause of the disease rather than just managing its symptoms.
- Gene Editing Therapies: CRISPR/Cas9 Gene Editing: This technology allows scientists to “cut and paste” sections of DNA to correct the underlying mutation that causes CF. Several biotech companies and research institutions are exploring CRISPR-based gene editing to directly repair or replace faulty CFTR genes in the patient’s cells.
- Gene Therapy (Viral Vectors): Gene therapy involves using viral vectors, such as Adeno-associated Virus (AAV) vectors to deliver a functional copy of the CFTR gene to a patient’s lung cells. This therapy aims to provide a lasting solution by enabling cells to produce functional CFTR protein.
- Stem Cell Therapy: Researchers are also exploring the use of stem cell therapies to treat CF. These therapies would involve replacing defective cells in the lungs with genetically corrected stem cells that can differentiate into healthy, functional lung tissue capable of producing CFTR protein.
- Oligonucleotide-Based Therapies: Antisense Oligonucleotides (ASOs) are small synthetic strands of nucleic acids that can bind to RNA and modulate its function. For CF, ASOs may be designed to correct splicing mutations or other types of genetic defects that cause CFTR protein dysfunction.
Anyone interested in genetic therapies for CF should consider participating in clinical trials, as these are investigational therapies and not yet FDA-approved. You can search trial databases (e.g., ClinicalTrials.gov) or consult with your healthcare provider for ongoing studies in your area. Connecting with advocacy organizations like Emily’s Entourage and the Cystic Fibrosis Foundation can also help you stay informed about trial opportunities and advancements.
Are there any known side effects of genetic therapies?
Genetic therapies for CF, while promising, can have potential side effects. Common risks include immune reactions, which can lead to inflammation or flu-like symptoms. Long-term side effects are still being studied, as these treatments are relatively new and their lasting impact is not yet fully understood.
What are the most important concepts for people with CF to understand when discussing genetic therapies?
- Treatments aim to address the root cause of the disease by correcting or compensating for the defective CFTR gene rather than just managing symptoms. Genetic therapies, such as mRNA treatments or gene editing, are in clinical trials but hold promise for patients, especially those who don’t benefit from current CFTR modulators.
- It’s important to stay informed about new research and talk with your doctor or care team about any clinical trials or investigational therapies that might be appropriate for your specific CF mutation and health condition.
What mutations are eligible for the currently enrolling genetic therapy trials?
To find out which CF mutations are eligible for currently enrolling genetic therapy trials, follow these steps:
- Explore Clinical Trials
- ClinicalTrials.gov: This is a comprehensive global database of clinical studies where you can search for trials specifically by filtering for “cystic fibrosis” and other relevant keywords.
- Cystic Fibrosis Foundation’s Clinical Trial Finder: This platform allows you to search for clinical trials based on their location and the type of research you’re interested in. It often includes studies on genetic therapies, gene editing, and mRNA treatments.
- Consult with Your CF Care Team
- Speak with your physician or care team. They can provide personalized guidance based on your medical history and trials that might be a good fit.
- CF clinics are often informed about upcoming or ongoing research, and they can help connect patients with appropriate clinical trials.
- Join Patient Registries
- Emily’s Entourage’s Patient Registry: Emily’s Entourage maintains a global patient registry of CF individuals who are genetically ineligible for CFTR modulators or do not benefit from existing modulator therapies. The registry allows these individuals to contribute their data and become informed of relevant clinical research and trials. It also accelerates the development of lifesaving therapies by offering faster, more targeted clinical trial recruitment.
- Connect with Research Institutions or Companies
- Reach out to biotech companies focused on genetic therapies for CF. For instance, companies working on mRNA treatments may be recruiting for early-stage trials. ReCode Therapeutics and other biopharma companies developing genetic therapies for CF may offer avenues for participation. Contact [email protected] to learn more about a Phase 1b study evaluating RCT2100, an investigational inhaled mRNA therapy for people with CF who have mutations in the CFTR gene that do not respond to CFTR modulators.
- Advocacy Groups
- Cystic Fibrosis Research Community: There are advocacy groups and communities that engage in research partnerships and collaborations. These groups often provide information about the latest treatments and clinical trials and offer resources on how to get involved.
Would some participants receive a placebo in a genetic therapy trial?
- In some cases, participants in a CF clinical trial may receive a placebo. This is common in trials to assess the efficacy and safety of the treatment being studied.
- In a placebo-controlled trial, participants are typically divided into two groups: one receiving the investigational therapy and the other receiving a placebo, which has no therapeutic effect. This allows researchers to compare outcomes between the two groups to determine whether the genetic therapy is effective in improving CF symptoms or addressing the underlying cause of the disease.
It is important to note:
- Not all trials use placebos—some use open-label designs where all participants receive the treatment, especially in early-phase or compassionate-use studies.
- Placebo-controlled trials are designed with safety in mind, and participants receive close monitoring.
- Before joining any trial, it’s important to discuss the design with your doctor or care team, including whether placebos are involved, so you can make an informed decision.
When would genetic therapies be available for compassionate use?
- Investigational therapies may become available for compassionate use when a patient with a serious or life-threatening condition, such as cystic fibrosis, has no other treatment options and cannot participate in a clinical trial.
- Compassionate use, also known as expanded access, allows eligible patients to access experimental treatments that are still in development. To qualify, a doctor must request the therapy on behalf of the patient, and the company developing the drug and regulatory authorities, like the FDA, must approve the request.
- While compassionate use offers hope for those in need, it’s typically limited to exceptional cases where no alternatives exist.
How effective would mRNA or gene therapy be compared to Trikafta?
- The effectiveness of mRNA or gene therapy for cystic fibrosis compared to Trikafta is still unknown, as there is no head-to-head data comparing them.
- Trikafta, a highly effective CFTR modulator, has significantly improved outcomes for many patients with common CF mutations. However, mRNA and gene therapies aim to address the root cause of CF by enabling the production of functional CFTR protein in a broader range of mutations, potentially offering a more comprehensive solution, particularly for patients who cannot benefit from Trikafta. The full potential of these therapies will only become clear as clinical trials progress.
Will clinical trials for genetic therapies accept participants with lower lung function?
- Whether clinical trials for genetic therapies accept participants with lower lung function depends on the specific trial’s eligibility criteria. Some trials may set a minimum lung function threshold, typically measured by FEV1 (forced expiratory volume), to ensure patient safety and the trial’s ability to accurately measure outcomes.
- However, some studies, especially those aimed at more severe cases of CF, may accept participants with lower lung function to assess the therapy’s effectiveness in a broader range of patients. It’s important to review each trial’s requirements and consult with your healthcare provider to determine if you’re eligible.
How will genetic therapies impact people who are post-transplant?
- Genetic therapies, such as mRNA or gene editing, are primarily designed to correct the underlying cause of CF by enabling cells to produce functional CFTR protein. For people with CF who are post-transplant, the impact of genetic therapies may be limited, as lung transplants replace the damaged tissue with donor lungs that do not have the CF mutation.
- However, these therapies could potentially benefit other organs affected by CF, such as the pancreas or liver, or help prevent complications in other parts of the body. It’s essential for post-transplant patients to consult their care team, as genetic therapies are still experimental, and their use in this population may require further investigation.