Daily Archives: February 29, 2020

Overview

Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body.

Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery. But in people with CF, a defective gene causes the secretions to become sticky and thick. Instead of acting as lubricants, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.

Although cystic fibrosis is progressive and requires daily care, people with CF are usually able to attend school and work. They often have a better quality of life than people with CF had in previous decades. Improvements in screening and treatments mean that people with CF now may live into their mid- to late 30s or 40s, and some are living into their 50s.

In the U.S., because of newborn screening, cystic fibrosis can be diagnosed within the first month of life, before symptoms develop. But people born before newborn screening became available may not be diagnosed until the signs and symptoms of CF show up.

Cystic fibrosis signs and symptoms vary, depending on the severity of the disease. Even in the same person, symptoms may worsen or improve as time passes. Some people may not experience symptoms until their teenage years or adulthood. People who are not diagnosed until adulthood usually have milder disease and are more likely to have atypical symptoms, such as recurring bouts of an inflamed pancreas (pancreatitis), infertility and recurring pneumonia.

People with cystic fibrosis have a higher than normal level of salt in their sweat. Parents often can taste the salt when they kiss their children. Most of the other signs and symptoms of CF affect the respiratory system and digestive system.

The thick and sticky mucus associated with cystic fibrosis clogs the tubes that carry air in and out of your lungs. This can cause signs and symptoms such as:

The thick mucus can also block tubes that carry digestive enzymes from your pancreas to your small intestine. Without these digestive enzymes, your intestines aren't able to completely absorb the nutrients in the food you eat. The result is often:

If you or your child has symptoms of cystic fibrosis or if someone in your family has CF talk with your doctor about testing for the disease. Consult a physician who is knowledgeable about CF.

Cystic fibrosis requires consistent, regular follow-up with your doctor, at least every three months. Contact you doctor if you experience new or worsening symptoms, such as more mucus than usual or a change in the mucus color, lack of energy, weight loss, or severe constipation.

Seek immediate medical care if you're coughing up blood, have chest pain or difficulty breathing, or have severe stomach pain and distention.

In cystic fibrosis, a defect (mutation) in a gene the cystic fibrosis transmembrane conductance regulator (CFTR) gene changes a protein that regulates the movement of salt in and out of cells. The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat.

Many different defects can occur in the gene. The type of gene mutation is associated with the severity of the condition.

Children need to inherit one copy of the gene from each parent in order to have the disease. If children inherit only one copy, they won't develop cystic fibrosis. However, they will be carriers and could pass the gene to their own children.

Because cystic fibrosis is an inherited disorder, it runs in families, so family history is a risk factor. Although CF occurs in all races, it's most common in white people of Northern European ancestry.

Complications of cystic fibrosis can affect the respiratory, digestive and reproductive systems, as well as other organs.

If you or your partner has close relatives with cystic fibrosis, you both may choose to have genetic testing before having children. The test, which is performed in a lab on a sample of blood, can help determine your risk of having a child with CF.

If you're already pregnant and the genetic test shows that your baby may be at risk of cystic fibrosis, your doctor can conduct additional tests on your developing child.

Genetic testing isn't for everyone. Before you decide to be tested, you should talk to a genetic counselor about the psychological impact the test results might carry.

Feb. 04, 2020

Read more from the original source:

Cystic fibrosis - Symptoms and causes - Mayo Clinic

The season-opening bout between Inter Miami CF and LAFC at Banc of California Stadium on Sunday (5:30 pm ET | ESPN, ESPN Deportes, MLS LIVE on DAZN in Canada)is a sexy matchup for a lot of reasons.

On one side, you've got an LAFC team coming off arguably the most dominant single season in MLS history a torrid 2019 campaign that saw them cruise to the Supporters' Shield while racking up 72 points and post a ridiculous +48 goal-differential (both league records)while also boasting the league's MVP in Carlos Vela.

On the other, you've got Inter Miami playing theirfirst-ever MLS match, a long-awaitedculmination of an expansion project years in the making, with a roster that looks set to have them competitive from the jump, including a Mexican star of theirown in Rodolfo Pizarro.

All of that makes it arguably the most anticipated fixture of the league's opening weekend, and it's reflected in the numbers.

According to a Thursday story in the Miami Herald, tickets for the match are re-selling for an average price of $149 the highest number for an MLS opener since SeatGeek started tracking the secondary market in 2010. The next-closest total for this year's opening weekend is Nashville SC's MLS debut against Atlanta United on Saturday at $84.

If you needed any more evidence as to the hype surrounding this one, that's as good as any. Now, to see how it actually plays out on the field.

Originally posted here:

LAFC vs. Inter Miami CF most in-demand opening game ticket in at least 10 years - MLSsoccer.com

Posted: Feb 28, 2020 / 06:44 PM EST / Updated: Feb 28, 2020 / 07:35 PM EST

ROCHESTER, N.Y. (WROC) Students at School No. 43 in Rochester gathered to support their classmate living with cystic fibrosis, or CF.

At Fridays Purple Shirt Day assembly, third grader Trent Judkins read aloud his own recently published book.

8-year-old Judkins is living with cystic fibrosis. The hereditary disease affects the lungs and the digestive system. His book that he wrote and illustrated explains what its like to have the disease.

Trents father, Trent Judkins Sr., helped to organize the assembly.

Today were just looking to kinda raise awareness. Really just help families that are dealing with CF. Kinda put it out there let it be known that its known in our community. Just kind of give everyone a visual on exactly what happens in your day to day life and what goes on with CF and cystic fibrosis, said Trent Judkins Sr.

Trents book is called A Boy with CF: His Story of Acceptance and Endurance. Trent and his family also started a foundation for CF called TJAE CF Foundation, which stands for The Journey of Acceptance and Endurance.

Read more here:

Local third grader reads his newly published book about living with CF to classmates - RochesterFirst

Ex Vivo Testing Phase Underway with Tissue Samples Collected from More than 500 Adult CF Patients; Enrollment Target Exceeded

Clinical Testing Phase to Begin in 2H 2020

Company Expects CHOICES to Potentially Serve as the Basis for an MAA in 2021

BOSTON, Feb. 24, 2020 /PRNewswire/ --Proteostasis Therapeutics, Inc. (NASDAQ:PTI), a clinical stage biopharmaceutical company dedicated to the discovery and development of groundbreaking therapies to treat cystic fibrosis (CF) and CF Europe, the federation of 48 national CF Associations in Europe, today announced the completion of enrollment of 502 patients with CF for HIT-CF, a European-based initiative that is paving the path to personalized medicine through the CHOICES clinical trial. CHOICES will test PTI drug combinations in an ex vivo study and then in a clinical trial to assess the predictability of the organoid assay for clinical benefit.

For the ex vivo portion, organoids derived from tissue samples provided by patients enrolled in the study are evaluated for responsiveness to investigational CFTR modulators, including Proteostasis' CFTR potentiator, corrector and amplifier, dirocaftor (DIR), posenacaftor (POS) and nesolicaftor (NES), respectively. Based on an individual's organoid response, patients will be invited to progress to the next portion of the study which is a placebo controlled, double blind, crossover study known as the CHOICES trial (Crossover trial based on Human Organoid Individual response in CF - Efficacy Study).

The results from CHOICES may serve as the basis for a potential Marketing Authorization Application with the European Medicines Agency (EMA) in 2021 through a novel regulatory pathway. This strategic initiative is led by the HIT-CF consortium, funded through the European Commission's Horizon 2020 program. The CHOICES clinical study is part of PTI's broader clinical development strategy for its CFTR modulator candidates that also includes the MORE trial in CF subjects with the most common F508del homozygous genotype.

"The enrollment of more than 500 patients across Europe in the first phase of the HIT-CF project is a testament to the strategic imperative this program holds for both the patient and treatment community," said Geoffrey Gilmartin, M.D., M.M.Sc., Chief Medical Officer of Proteostasis Therapeutics. "With the successful translation of activity from organoids to patients, this study has the potential to usher in a personalized medicine approach to CF. This approach would begin with patients who have less common mutations, but could ultimately serve the broader CF community by delivering personalized treatment choices that maximize benefit based on each patient's responsiveness to therapy."

"We are excited that Proteostasis is participating in the HIT-CF project and supporting our efforts to bring CF treatment to more people across Europe," said Jacquelien Noordhoek, President of CF Europe and representative of the Netherlands Cystic Fibrosis Society (NCFS). "Enrolled individuals are a portion of the approximately 2,300 adults in the European patient registry who are not eligible for any currently approved modulator due to their genotype and the HIT-CF project represents the only option to explore potential benefit of disease modifying drugs for this group. Putting patients with CF first is our highest priority. We are looking forward to continuing our partnerships and providing Europeans with CF the best possible care."

About Organoids

Organoids are cell cultures that grow in a culture dish with properties similar to those of the organ from which they are derived. Because organoids are made from stem cells, they contain the same mutations as the person from whom the biopsies are derived. Investigational drugs which target the basic defect of CF can be used in an organoid system to evaluate rare mutations where the drugs may have a positive effect.

Unlikein vitrosystems such as human bronchial epithelial (HBE) cells, which are derived from lungs that have been removed from CF patients, or the engineered rat-derived FRT cell line (which has had false positive clinical results), rectal organoids are cultured from tissues obtained through a minimally invasive and painless procedure from donors who then become eligible to participate in a clinical study. Organoids can provide valuable insights for donors, including their likelihood of achieving improvements in pulmonary function and reductions in sweat chloride concentration with CFTR modulators based on theex vivoresponse to those drugsi.

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About HIT-CF Europe

HIT-CF Europe is a research project which aims to provide better treatment and better lives for people with cystic fibrosis (CF) and rare mutations. To achieve this, drug candidates are first tested on patient-derived organoids in qualified laboratories acrossEurope. Subsequently, based on the measured signal in the organoids, a smaller group of patients will be invited to participate in clinical trials with investigational molecules from participating pharmaceutical companies.

All participating centers are part of theEuropean Cystic Fibrosis Society Clinical Trial Network (ECFS-CTN). The project has received funding from theEuropean Union'sHorizon 2020 research and innovation program under grant agreement number 755021. For more information, visitwww.hitcf.org.

About Proteostasis Therapeutics, Inc.

Proteostasis Therapeutics, Inc.is a clinical stage biopharmaceutical company developing small molecule therapeutics to treat cystic fibrosis and other diseases caused by dysfunctional protein processing. Headquartered inBoston, MA, theProteostasis Therapeuticsteam focuses on identifying therapies that restore protein function. For more information, visitwww.proteostasis.com.

Safe Harbor

This release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including but not limited to statements regarding the potential of PTI drug combinations, expectations regarding ex vivotesting of our proprietary combinations in organoids and clinical evaluation in CF patients, the expected timing for enrollment, completion and reporting of results of our CHOICES Phase 3 clinical trial, our commitment to expanding available therapeutic options for CF patients and the intended goals of the CHOICES trial and the ability to serve as a potential basis for future marketing approval. Words such as "aim," "may," "will," "expect," "anticipate," "estimate," "intend," and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. Any forward-looking statements are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially from those expressed or implied by the forward-looking statements, and we, therefore cannot assure you that our plans, intentions, expectations or strategies will be attained or achieved. Such risks and uncertainties include, without limitation, the potential of our proprietary combination therapies for the treatment of CF, the potential benefit of our proprietary combination therapies to patients, expected completion of our clinical studies and cohorts for our clinical programs, initiation of a pivotal or registrational study, the possibility final or future results from our drug candidate trials (including, without limitation, longer duration studies) do not achieve positive results or are materially and negatively different from or not indicative of the preliminary results reported by the Company (noting that these results are based on a small number of patients and small data set), uncertainties inherent in the execution and completion of clinical trials (including, without limitation, the possibility that FDA or other regulatory agency comments delay, change or do not permit trial commencement, or intended label, or the FDA or other regulatory agency requires us to run cohorts sequentially or conduct additional cohorts or pre-clinical or clinical studies), in the enrollment of CF patients in our clinical trials in a competitive clinical environment, in the timing of availability of trial data, in the results of the clinical trials, in possible adverse events from our trials, in the actions of regulatory agencies, in the endorsement, if any, by therapeutic development arms of CF patient advocacy groups (and the maintenance thereof). For a discussion of other risks and uncertainties, and other important factors, any of which could cause our actual results to differ from those contained in the forward-looking statements, see the section entitled "Risk Factors" in our most recent Form 10-Q, as well as discussions of potential risks, uncertainties, and other important factors in our subsequent filings with the Securities and Exchange Commission. We assume no obligation to update or revise any forward-looking statements, whether as a result of new information, future events or otherwise, unless required by law.

CONTACTS:

Investors:David Pitts / Claudia StyslingerArgot Partners212.600.1902david@argotpartners.com/ claudia@argotpartners.com

Media:David RosenArgot Partners212.600.1902david.rosen@argotpartners.com

HIT-CF Project Coordination:HIT-CF ConsortiumUniversity Medical Centre Utrecht (The Netherlands)HITCF@umcutrecht.nl

i Berkers et al, Rectal Organoids Enable Personalized Treatment of Cystic Fibrosis Cell Reports 26, 17011708,February 12, 2019

View original content:http://www.prnewswire.com/news-releases/proteostasis-therapeutics-and-cf-europe-announce-completion-of-patient-enrollment-for-choices-the-first-ever-personalized-medicine-based-study-in-cystic-fibrosis-301009650.html

SOURCE Proteostasis Therapeutics, Inc.

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Proteostasis Therapeutics and CF Europe Announce Completion of Patient Enrollment for CHOICES, the First-Ever Personalized Medicine-Based Study in...