Machine learning to help cystic fibrosis decision-making

By James Hayes

New research claims to have demonstrated that machine learning techniques can predict with a 35% improvement in accuracy – in comparison to existing statistical methods – whether a cystic fibrosis patient should be referred for a lung transplant.

The research, led by Professor Mihaela van der Schaar of the Alan Turing Institute at the University of Oxford, has been generated through a partnership between The Alan Turing Institute and charity the Cystic Fibrosis Trust. Continue reading Machine learning to help cystic fibrosis decision-making

Patient-reported outcomes: Time for a new approach?

By Janice Abbott

Patient-reported outcome (PRO) measurement (e.g. health-related quality of life questionnaires, symptom diaries) can provide a standardized, valid and reliable way of gaining the patients’ perspective on ‘how they are’ or the benefits and limitations of a specific intervention. The insights that patients have concerning their health are important given that aspects of patient-reported quality of life are independent predictors of survival in cystic fibrosis (CF) [1]. Regulatory authorities require the inclusion of PROs in clinical trials as an additional outcome parameter and PRO information is becoming important in labelling claims. It is noteworthy that the top 10 research questions, reached by global consensus of patient and healthcare providers, all require the inclusion of CF-specific PROs to achieve meaningful answers [2]. This represents a significant paradigm shift but capturing data that matters to patients, families and clinicians is challenging. Two of the persistent challenges in CF PRO measurement are a) the development and use of technologies to enable efficient administration, accurate scoring, and the correct interpretation of data and b) being able to accurately measure PROs (or parental proxy assessment) across the entire CF lifespan. These important issues are considered by two papers in this issue of the Journal of Cystic Fibrosis [34].

PRO measurement largely remains a research endeavour with little uptake in clinical practice. Administering, scoring and interpreting PROs in a busy clinic is difficult. It requires staff time and expertise and the results are not instantly accessible to steer a discussion with the patient or to aid clinical decision making. Paper-based data collection suffers from missing, unreadable data that is prone to scoring/mathematical error. The development of electronic PRO (ePRO) technologies is immensely important in clinical practice and for endpoint assessment in clinical trials. It is a cost-saving, patient-friendly approach to PRO assessment: data collection can occur in clinic, the patient’s home, workplace or school. Results can be added to a patient’s electronic medical file, alerts triggered by problematic scores and clinicians can track patient/parent-reported symptom/event data over time. Importantly, electronic data capture enhances the integrity and accuracy of the data, makes it logistically easier to collect repeated assessments (daily or at several points over a trial), and is preferred over paper-based data collection by the US Food and Drug Administration (FDA).

There is growing evidence that paper and electronic versions of PROs typically provide comparable data but this requires psychometric evaluation if transferring an original paper-based questionnaire to an electronic mode of administration. Solé and colleagues have demonstrated measurement equivalence with paper and electronic administrations of the Cystic Fibrosis Questionnaire-Revised (CFQ-R teen/adult version) [3]. The e-CFQ-R web version is linked to an online database that can be adapted for any electronic devise (smartphone, tablet, computer). Immediately the patient completes the questionnaire, results are sent to the healthcare team and the data are saved in a centralized, protected database. Real-time patient-reported data are available to the clinician as an adjunct to clinical data. Access to the English and Spanish versions are by independent web addresses provided in the paper. Ultimately, the integration of PRO data within electronic care records as developed by Peckham et al. [5], or in CF patient registries would enable efficient patient care and longitudinal research endeavours.

There is a lack of PROs that can be used as endpoints in early intervention studies in CF. Such instruments are time-consuming and painstakingly difficult to develop so the research of Edwards et al. reporting on the initial development of a CF-specific, parent-reported instrument for children 0–11 years is welcome [4]. The need for an effective way of data collection is also considered. The instrument takes the form of an electronic (web-based data capture), observational sign/symptom diary containing 17 respiratory and activity signs that parents report the presence or absence of. Results suggest that children aged 7 to 11 years are best reporting for themselves, therefore observational reporting by parents should focus on young children aged 0 to 6 years. Considerable evaluation has yet to determine the final instrument but the development of the scale follows FDA guidance enabling its acceptance as a clinical trial endpoint in infants and young children with CF.

Over the last twenty years we have learned a great deal about measuring patient-reported outcomes in CF, and there are many pitfalls when employing PROs in CF trials [6]. They are typically secondary endpoints and the trial is not powered on them, often making it difficult to draw valid inferences about treatments. However, there are trials that have collected patient-reported respiratory symptom data as the primary endpoint [78], employing the only CFQ-R subscale that has been approved by the FDA for use as an endpoint. Scientific, regulatory and pragmatic factors are driving the shift towards ePRO data collection. The development of ePROs is not trivial, yet they are fast becoming the ‘gold standard’ for PRO data capture in clinical trials. The challenge now is to develop CF-specific, lifespan PROs, utilising new technologies that can deliver real-time, high-quality PRO information. They also need to be acceptable to the regulatory bodies to aid their decisions on cost-effectiveness and ensure the appropriate commissioning of new medicines to improve the lives of people with CF and their families.

Original article with references here.

Newfound airway cells may breathe life into tackling cystic fibrosis

By Aimee Cunningham

Meet the ionocyte. This newly discovered cell may be the star of future cystic fibrosis therapies. Researchers have found that the gene tied to the disease is very active in the cells, which line the air passages of the lungs.

While the cells are rare, making up only 1 to 2 percent of cells that line the airways, they seem to play an outsized role in keeping lungs clear. The identification of the ionocyte “provides key information for targeting treatments,” says medical geneticist Garry Cutting of Johns Hopkins School of Medicine in Baltimore, who was not involved in the research. Two teams, working independently, each describe the new cell online August 1 in Nature.

The ionocyte shares its name with similar cells found in fish gills and frog skin. This type of cell regulates fluid movement at surfaces — skin, gills, airways — where air and water meet. In people, special proteins that tunnel across cell membranes lining the airways allow chloride ions (half of what makes salt) to move into the airway. This causes water to move into the airway through a different channel to moisten mucus along the lining, which helps it remove bacteria and inhaled particles from the body.

The tunnel protein that allows chloride ions through is made by a gene called CFTR. In cystic fibrosis patients, that gene is flawed. Airways can’t regulate water movement properly and get clogged with thick mucus that traps bacteria and leads to persistent infections and lung damage. The genetic disease affects at least 70,000 people worldwide, according to the Cystic Fibrosis Foundation in Bethesda, Md.

Researchers had suspected CFTR was most active in ciliated cells — cells with brushlike projections that work along with the mucus in airways to move invaders out. But the new work found very little gene activity in those cells, compared with the ionocytes.

In experiments with laboratory samples of mouse cells from the airway lining, cell biologist Jayaraj Rajagopal of Massachusetts General Hospital in Boston and his colleagues found that the gene was very active in ionocytes: out of all the instructions for building the tunnels detected in the cells, 54 percent came from ionocytes. Aron Jaffe, a respiratory disease researcher at Novartis Institutes for Biomedical Research in Cambridge, Mass., and his colleagues reported that, in laboratory samples of human airways cells, ionocytes were the source of 60 percent of the activity of the tunnels.

The discovery of the new cells raises a lot of questions. Jaffe wonders where ionocytes are positioned in the lining of the airways, and how that placement supports the coordination of water movement and mucus secretion by other cells. “You can imagine the distribution [of ionocytes] is really important,” he says.

A question Rajagopal has: “How does a rare cell type do all of this work?” In fish and frogs, ionocytes are loaded with mitochondria, the so-called cellular energy factories, he notes. Maybe that will be true for human ionocytes, too, giving them lots of energy to do the lion’s share of regulating the movement of water.

Both researchers say the ionocyte’s discovery should lead to a better understanding of cystic fibrosis. “It will let us think about creative new ways to approach the disease,” Rajagopal says.

Original article here.

AIT’s Inhaled Nitric Oxide Shows Potential in Fighting Bacterial Infection Prevalent in CF Patients

By Alice Melao

Inhaled nitric oxide (NO) was shown to be an effective antibacterial agent against Mycobacterium abscessus infection in preclinical studies, as well as in a pilot clinical trial, according to AIT Therapeutics.

The company discussed the latest data on its NO product in two poster presentations during the 3rd Annual World Bronchiectasis Conference held recently at Georgetown University in Washington, D.C.

NO is a small molecule that is an important mediator of immune defense mechanisms against infections. The compound has been shown to have broad-spectrum antibacterial activity against several strains of bacteria that often infect patients with underlying lung diseases, including cystic fibrosis (CF).

Continue reading AIT’s Inhaled Nitric Oxide Shows Potential in Fighting Bacterial Infection Prevalent in CF Patients

Phage-Coated Microparticles Treats Lung Conditions like CF

By SterlingAdmin

The methods available to treat bacterial infections are many. But among those with any real and lasting effectiveness, their usage is limited. Antibiotics were once the Holy Grail of medicine to deal with devastating diseases that wiped out entire populations. With them, these suffering conditions were almost entirely wiped out and the populace began to learn how to live without the fear of most children dying at a young age. But, as is well known, the age of antibiotic cure-alls is ending and the time of antibiotic resistance is beginning to reach its peak. So, medical researchers are hard at work on all the other opportunities for dealing with bacteria that don’t require these specific groups of compounds.

The Medicine of Viruses

Phage therapy is one such alternative that has begun to see more extensive use over the past two decades.Bacteriophages are lifeforms that have crafted over evolutionary time a niche focused on using bacteria as their reproductive hosts, killing said host in the process. And since they are living beings as well, they actively engage in the selective pressures of finding ways around resistance against them, rather than being a static attack on bacteria like antibiotics are. This means that even the most feared multi-drug resistant bacterial strains have little to no protection against phages.

The primary downside to this treatment is that phages are highly specialized, having formed themselves to only target a particular host species. Therefore, to deal with certain bacteria, one also has to find and be able to cultivate a certain type of phage. Once that step is accomplished, however, it has been found that they can be altered fairly easily to give them variable methods of attack, so as to minimize any potential side effects on the human body while they are killing the bacteria. They can even be set up to synergistically interact with the human immune system to work together to wipe out the bacterial invasion.

With the right phage strain, the largest remaining issue is how to get them into the human body and to the right type of location and system that the bacteria are also attacking from. A large proportion of phage research has gone into finding new ways to do this very thing, as it is one of the inefficient areas of the therapy and, if improved, can drastically heighten the success rates of the treatment and the types of bacterial diseases that can be combated.

It is difficult and time consuming to produce modified phage, with many of them dying in this fabrication. For bacterial diseases of the lungs, such as the kinds that like to colonize those suffering from cystic fibrosis, there is currently no true delivery method of getting phage into the deep lung tissues. And, of course, getting any single treatment approved requires showing success in some sort of animal model, even though the phages may not translate well or at all to anything other than humans. This is one of the major problems this author has with the current approval setup by governments for medical trials.

Microparticles For A Micro World

Scientists at the Georgia Institute of Technology have been seeking a new method for just such a delivery system. Dry powder formulations has seen some positive benefits for effectiveness in recent years, but there lingers the issue of how to use such a powder to delivery living phages to the right spot. To do so would require a very carefully made powder indeed.

The engineering techniques they brought into play were used to make phage-loaded microparticles (phage-MPs), hollow molecular structures formed using water-oil-water emulsion to keep them stable. The bacteria being combated was the opportunistic pathogen Pseudomonas aeruginosa and several strains of phage against it were chosen for the experiment.

The microparticles were housed in a phage-containing solution, allowing them to be filled with the phage after incubation. Though they were filled in a different way than the usual method of them being inside the MPs. Instead, they cover the exterior in this method after the MPs are made, meaning no phage are lost due to solvent usage during MP fabrication from the prior ways other studies used. Three to five phages were contained on the MPs in order to reduce the likelihood of any possible bacterial resistance.

This delivery mechanism also reduces endotoxin production by the phage, thereby minimizing side impacts of their use, with the reduction bringing them down to 0.078 endotoxin units (EUs), far below the accepted FDA limit of 20 EU in treatments. The technique was first tested on petri dishes containing the bacteria to which the phage-MPs were applied. The P. aeruginosa were modified to express green fluorescent protein (GFP) to identify their living location on the plates.

A Complete Victory

After 16 hours of co-incubation, large patches of non-fluorescence showed where the phage had successfully killed off the bacteria, while the control group MPs without a phage coating had no deaths. These zones were also far larger than the applied MP area, showing that the phage were able to spread and extend to other bacteria in the dishes. The same test was done using synthetic sputum to mimic the environment of an animal lung and the bacteria and phages were applied at the same time. There was no visible growth of bacteria after application, showing that the phages were able to both control and wipe them out. A further test showed the phage are also able to get past the protective biofilms of the bacteria that they make under environmental emergencies.

The dry powder formulations were also seen to have a large burst of phages initially, with slow release for two weeks after, the perfect way to allow consistent application and treatment against the bacteria. The final experiment involved using mice infected with the bacteria. A control test using just phage-MPs showed no negative effects on the mice or their lungs after application. Fluorescent phage-MPs also showed that they were only localized to the lungs and nowhere else in the body, as desired. The control using free form phages without microparticles revealed how the dry powder still didn’t allow them to be properly applied, with no major phage levels detected in those mouse lungs, proving that the MPs as a transport vector were required.

When tested on mice infected with P. aeruginosa, the bacterial count dropped by an entire order of magnitude and 100% of the mice survived their pneumonia, while the untreated control group only had 13% survive. For mice with a cystic fibrosis genetic mutation, the same test saw their bacterial counts drop by three orders of magnitude, approaching the limit of what could be detected. The phage-MPs also saw the same effectiveness against multiple strains of the bacteria, meaning that even genetic variance in a population wasn’t enough to defend against them.

A last point of importance is that when testing against a mouse group exposed to phage-MPs long before being infected and later treated, there was no reduction in effect and no antibodies against the phages seemed to develop. So there is likely no performance loss to the treatment if used multiple times.

The New Antibiotics

As a conclusion, the researchers were able to engineer specialized biomaterials made of microparticles that, when coated with bacteriophages, were highly effective at reducing bacterial counts for lung-related diseases, including those resulting from the lowered immune system responses of cystic fibrosis. These phage-MPs are stable and can be stored for a fair amount of time with no loss in phage amounts and can be administered through simple inhalation, meaning younger patients can be treated with less complications.

For lung-related diseases, and likely for broader conditions at large in the medical community, this breakthrough might serve as a major way to allow phage therapy to become more common and used in replacement of or as a sought after alternative to antibiotics. The number of lives this should be able to save in the long run is likely incalculable.

Press Article Link

Study Link

Original article Link

A Cost-Utility Analysis Of Vertex’s CF Drugs — What It Teaches Us About Trial Design

By Claudia Dall’Osso, Ph.D., Ian Love, Ph.D., and Nuno Antunes, Ph.D., Decision Resources Group (DRG)

Commercial success in the pharmaceutical industry requires that clinical programs, in addition to demonstrating clinical effectiveness, also provide data supporting a drug’s value. The Institute for Clinical and Economic Research (ICER), a U.S.-based cost-effectiveness watchdog, recently released an analysis suggesting that Vertex Pharmaceuticals’ cystic fibrosis (CF) franchise — Kalydeco, Orkambi, and the recently launched Symdeko — while offering meaningful clinical efficacy, would require discounts of approximately 70 percent1 to be cost-effective.

Here, we review ICER’s cost-effectiveness analysis of the Vertex CF franchise to highlight lessons for orphan drug developers related to clinical trial designs and outcome metrics that would facilitate more favorable cost-effectiveness evaluations by stakeholders who employ cost-utility modeling (e.g., ICER, U.K.’s National Institute for Health and Care Excellence [NICE]).

Calculating The Cost-Effectiveness Of Vertex’s Cystic Fibrosis Franchise

In a cost-utility model, health economic analysts strive to calculate the incremental cost to gain an extra quality-adjusted life year (QALY); they estimate a therapy’s impact on the level of utility patients are deriving from their life based on their health status and incorporate these data into a quantitative estimate of QALYs (Figure 1). The goal of the cost-utility analysis is to determine whether a therapeutic intervention changes the QALYs that patients will accumulate over a set time period (e.g., lifetime), and at what added cost. The threshold for what is considered an acceptable incremental cost per QALY varies by stakeholder; ICER typically presents a sensitivity analysis across a range of thresholds (e.g., $50,000 to $500,000 per QALY for an ultra-rare disease like CF).

In our view, data gaps opened the possibility of a potential undervaluation of the Vertex CF transmembrane conductance (CFTR) modulators on several metrics and, ultimately, on overall survival in the context of the ICER model. Vertex’s pivotal clinical trials captured the effect of CFTR modulators on the two organs chiefly affected in CF — the lungs and the pancreas — with outcome metrics for pulmonary function, percent-predicted 1-second forced expiratory volume (ppFEV1), and pulmonary exacerbation rate, as well as pancreatic sufficiency (body weight) (Figure 2). However, data on metrics assessing emerging complications (e.g., CF-dependent diabetes or bacterial infections), impact on use of other medications (e.g., pancreatic enzyme replacement therapy, mucolytics), reduction in healthcare resource utilization, or reduction in disease burden were far more limited, but these attributes were included in ICER’s cost-effectiveness analysis. Lacking clear clinical trial data on the metrics outlined above, health economists relied on arguably conservative assumptions to estimate the impact of the Vertex CFTR modulators on these domains. Because the Vertex CF franchise has a relatively short market history, and the long-term risks/benefits of the drugs are incompletely understood, assumptions to model the long-term impact of these medicines were also necessary.

For instance, to evaluate survival, ICER modeled the impact of CF-related diabetes in its analysis of CF patients’ health status. Owing to the dearth of clinical trial data on CF-related diabetes in the development program for the Vertex drugs, the company’s CFTR modulators were assumed not to impact this outcome (Figure 2). Treatment with the Vertex CFTR modulators was also conservatively assumed to have no long-term impact on weight after an initial increase and, without long-term data, the drugs’ impact on ppFEV1 beyond two years of treatment was modeled as a 50 percent reduction in the rate of ppFEV1 decline.

Notably, several CF experts interviewed by DRG consider it possible that early treatment of newborns could prevent disease development. The potential impact of early treatment with CFTR modulators on disease development and survival was not explored in the ICER analysis; although little data is available to support such an impact of the Vertex drugs, ICER has considered such scenarios largely unsupported in other evaluations (e.g., a cost-effectiveness evaluation of Spark Therapeutics’ Luxturna for the treatment of retinitis pigmentosa).

The translation of clinical trial data to utility is a second area wherein a manufacturer may lose traction in a cost-utility analysis, if the utility calculation isn’t sufficiently comprehensive or if the drug’s data package is insufficient to support its impact on all relevant metrics. In the ICER analysis of the Vertex franchise, health economists used the ppFEV1 metric to derive a utility curve by assigning a level of benefit to a specific ppFEV1 value. Although this is the most straightforward approach, it also results in an assessment of health benefits that relies exclusively on a mechanical respiratory metric, which may not adequately capture the quality of life experienced by patients, especially considering the multi-organ nature of CF. Indeed, at the May 17 presentation of the ICER model, stakeholders from the Cystic Fibrosis Foundation levied this criticism. Furthermore, ICER’s sensitivity analyses showed that changes in the relationship between ppFEV1 and utility could significantly affect the overall cost-effectiveness assessment. Notably, an alternative scenario in which the utility was increased by 5 percent, to account for clinical effects of a drug beyond pulmonary function, led to a 15 percent decrease in the cost-effectiveness ratio.

Similarly, the impact of the Vertex franchise on payer budgets in the ICER model related only to pulmonary supportive care, while other non-pulmonary expenses remained unchanged — an assumption made in the context of available data, but one that may not fully reflect the benefit of the drugs. Furthermore, the CFTR modulators did not impact the burden of supportive care for CF patients in the model, nor did they impact patients’ productivity. Ultimately, suboptimal alignment of clinical trial data with the demands of a comprehensive (e.g., multi-organ) cost-effectiveness model may have diminished the opportunity for the Vertex franchise to perform maximally in this cost-utility analysis.

Key Lessons And Takeaways For Drug Developers

Although clinical outcome data collected by Vertex was sufficient to gain an FDA green light, it was not sufficient to support a comprehensive analysis of cost-effectiveness in this multi-organ disease. As such, assumptions regarding drug impact were necessary in areas not adequately supported by data, opening the possibility for a suboptimal cost-effectiveness evaluation. To support more favorable and data-supported evaluations, developers should design clinical trials with an eye on cost-effectiveness.

  • Prior to initiating clinical trials, manufacturers should consider how a health status model is likely to be designed to assess cost-effectiveness. They should consider enrolling the assistance of academic researchers to understand which metrics may be important in such a model and to aid in the development of a reliable model in an area where none is established. With this analysis in mind, developers should strive to design a clinical program that covers relevant metrics and the durability of a drug’s impact on them. Indeed, an alternative scenario developed by ICER showed that a change in the long-term effectiveness assumption on ppFEV1 would have a profound impact on the final cost-effectiveness assessment; for Kalydeco, assuming no decline in ppFEV1 after the first two years (rather than 50 percent) decreased the incremental cost-effectiveness ratio ($ per QALY) by approximately 35 percent.
  • Developers should work to understand how key clinical metrics in a given disease area are translated into utility. In a disease with an established function, it is prudent to carefully survey the relevant literature. When developing a pioneering treatment, manufacturers should consider investment into the development of a utility curve that accurately accomplishes this, which would likely facilitate a reliable QALY calculation or at least more detailed/specific alternative scenarios and sensitivity analyses.
  • Understand the patient journey and track healthcare resource utilization during a clinical trial to more fully support an accurate assessment of cost of care, as a favorable impact on direct healthcare costs is important to attain widespread reimbursement.
  • Although metrics such as burden of care, caregiver burden, or productivity loss are difficult to rigorously track, they can be immensely valuable in highlighting the favorable indirect effects of disease-modifying drugs beyond the clinical efficacy. Understanding patients’ pain points and, ideally, tracking these metrics when possible (e.g., with real-world data or social media listening analyses) may further strengthen and support conventional metrics from clinical trials.

As market access hurdles intensify, and ICER’s analyses increasingly inform payer policy, anticipating and preparing for cost-utility analyses early in the design of a clinical program will be paramount to support a medicine’s value proposition with U.S. insurers.

Original article found here.

Positive Data from the CARE CF 1 Clinical Study of Oral Lynovex in Cystic Fibrosis Exacerbations

NovaBiotics Ltd (“NovaBiotics”) announces that its oral therapy for cystic fibrosis (CF), Lynovex®, has met the study objectives of the CARE CF 1 clinical trial.

CARE CF 1 assessed the effects of two weeks of Lynovex treatment as an adjunct to standard of care therapy (SOCT) in CF, compared to placebo plus SOCT. This trial was designed to determine whether the inclusion of Lynovex capsules alongside SOCT lessened the clinical impact of exacerbations in adults with CF, as measured by symptom severity and levels of bacteria and inflammatory mediators in sputum and blood.  CARE CF 1 was a 6-arm study with the primary objectives of determining the optimal dose and regimen of Lynovex in patients with exacerbations of CF-associated lung disease and to further evaluate the safety and tolerability of Lynovex in exacerbating CF patients.  Continue reading Positive Data from the CARE CF 1 Clinical Study of Oral Lynovex in Cystic Fibrosis Exacerbations

Omega-3 Compound Reduces Inflammation in Cystic Fibrosis Patients in New Pilot Study

By Jennifer Prince

A marine omega-3 compound comprising a docosahexaenoic acid (DHA) sn1-monoacylglyceride (MAG-DHA) may act as an anti-inflammatory for subjects with cystic fibrosis, according to a new pilot study1 published in the journal Marine Drugs. In the study, MaxSimil (Neptune Wellness Solutions; Laval, QC, Canada) increased omega-3 red blood cell levels, helped moderate the ratio of arachidonic acid (AA) to docosahexaenoic acid, and reduced key inflammatory biomarkers in subjects with cystic fibrosis. Continue reading Omega-3 Compound Reduces Inflammation in Cystic Fibrosis Patients in New Pilot Study

Vertex Pharmaceuticals opens expanded San Diego research center with focus on cystic fibrosis

By Bradley J. Fikes

Vertex Pharmaceuticals opened its new San Diego research center Monday, starting a new chapter in a decades-long quest to not only treat but cure cystic fibrosis.

In 18 years, three drugs for the lung-ravaging disease have emerged from Vertex’s San Diego center and more are in the pipeline.

The first, Kalydeco, was approved in 2012. It is the first drug that treats the underlying cause of the disease. The second, Orkambi, was approved three years later. And the third, Symdeko, was approved in February.

These drugs can benefit about half of all patients with the incurable disease. In the next several years, Boston-based Vertex hopes its drugs can help nearly all patients live longer, healthier lives.

Cystic fibrosis is caused by a genetic defect that allows a buildup of thick mucus in the lungs, and other internal organs. This mucus clogs airways and promotes the growth of bacteria. The average lifespan of patients is 37 years, up from 20 years in 1980. Treatments include antibiotics to fight lung infections and mucus-thinning drugs.

The new 170,000 square-foot building on Torrey Pines Mesa more than doubles the company’s space. The center includes cell culturing equipment to grow lung cells from patients, to be used for drug screening. A 4,000 square-foot incubator suite will serve outside collaborators.

Asides from cystic fibrosis, the staff will work on other serious diseases.

Among the speakers Monday morning was a veteran in the fight against cystic fibrosis: Jennifer Ferguson, who has two children with the disease, Ashton and Lola. Both her children are taking Vertex drugs, and both were present with her at the event.

With these drugs and the promise of better therapies ahead, she says Ashton and Lola have a good chance of growing up and leading their own lives. She urged all Vertex employees to think of themselves as part of a team to cure the disease.

Ferguson, of San Diego, found out about the work from the Cystic Fibrosis Foundation. The foundation had invested $30 million in startup Aurora Biosciences to find therapies.

In 2001, Vertex purchased Aurora for $592 million in stock, the same year Ashton was diagnosed. The research went on under Vertex, and Ferguson became quite familiar with the research team.

“The Cystic Fibrosis Foundation asked me to come speak, to show them what it’s like to have a little child with CF,” she said. “So I came here about 17 years ago with him as a 6-month-old.”

At that time, many cystic fibrosis patients never reached adulthood.

“I had a hard time keeping it together,” Ferguson told the audience of that long-ago visit.

“But I looked in the staff’s faces — and some of you are still here — and I thought, I’m going to put my faith and trust in your hands, in your brains. And I was able to let go of my worry, because you were on the case.”

Ferguson started visiting every few years to check on what progress was being made, first with Ashton, and later including Lola. She also raises money for the Cystic Fibrosis Foundation.

Both her children have shown improvement since starting the Vertex drugs, Ferguson said. But they still need to go through a daily regimen of clearing out their lungs.

From medications, the research frontier has advanced to investigations into a cure. That means fixing the genetic defect, which can come in several variations, inside living patients.

That cure might come from the hot new gene editing technology called CRISR. In 2015, Vertex allied with startup CRISPR Therapeutics to develop curative therapies.

This post was originally published on The San Diego Union-Tribune

Jerry Cahill’s CF Podcast: Stem Cell Research with Dr. Hans-Willem Snoeck

In this feature of The Path Forward with CF series, Dr. Hans-Willem Snoeck, Professor of Medicine (Microbiology and Immunology) at CUMC, sits down to discuss stem cell research as it relates to CF.

Because lung cells regenerate and repair themselves regularly, researchers believe that – some day – stem cell technology could be a one-time therapy to cure cystic fibrosis. Research is ongoing, but in the meantime, scientists can currently use human pluripotent stem cells to create lung organoids (tiny, 3-D structures that mimic features of a full-sized lung), introduce various mutations, and apply technologies to learn more about those mutations’ characteristics.

This video was originally published on JerryCahill.com