A Dutch Company on the Quest Against Cystic Fibrosis

An interview by:  Clara Rodríguez Fernández

Daniel de Boer founded ProQR in 2012 following a strong determination to improve the lives of people with cystic fibrosis. We started ProQR Therapeutics for a very personal reason,” he told me. “Eight years ago, my son was born, and diagnosed with cystic fibrosis. At that time, I was a serial entrepreneur in IT. I decided to make a career switch and start a company to develop drugs for cystic fibrosis, but then also for other genetic diseases.”

One would think that a person without a background in biotech might have it difficult to succeed, but de Boer is not the only to have so far successfully undertaken this endeavor. Over in France Karen Aiach built Lysogene to treat her daughter’s rare genetic disorder, while in the US the story of John Crawley and his company Amicus Therapeutics, founded to help his two children’s diagnosis, went so far as to inspire a movie. The determination and motivation of these parents seem to overdrive any challenges they might have faced because of their limited experience.

De Boer set out to create a business plan for his new company and found out that there was already quite a lot of activity, especially in approaches using small molecules or gene therapy.“We decided that we really wanted to add something new to the space, and take a completely novel approach.”

So he started looking for a new technology, and he found it. “Around that time, I met for the first time with some people in biotech, including the CEO at Alnylam, John Maraganore, and we talked about how they used RNA approaches for genetic diseases,” says de Boer.

Technologies targeting RNA are quite new compared to those that target DNA such as gene therapy. But RNA-based treatments have started to gain traction in the last few years. There are multiple ways that RNA can be used as a therapeutic, but its distinctive advantage over gene therapies and the likes is that it does not permanently change our genetic makeup, making it possible to reverse its effects.

Today, RNA technology is being tested in multiple rare diseases caused by genetic mutations, such as hemophilia, porphyria, or iron overload disorders. I thought, ‘if you can do that for all these other genetic diseases, why not for cystic fibrosis?’” says the Boer. “With that in mind, we started ProQR.”

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Thanks to The Boomer Esiason Foundation, CF Roundtable’s new Pearl Sustaining Partner

We would like to thank The Boomer Esiason Foundation for its continued support at the Pearl Sustaining Partner level. A special thank you goes out to BEF volunteer Jerry Cahill for helping make this grant possible. Because of this support, we can provide all of our CF Roundtable programs such as:

The Boomer Esiason Foundation helps support the CF community via its programs including:

  • Scholarships – BEF has numerous scholarship opportunities available
  • Lung Transplant Grant Program – covers transportation, housing and other expenses not covered by insurance that are related to transplant
  • You Cannot Fail – A motivation program that empowers people with CF
  • CF Podcasts – podcasts covering a wide variety of CF-related topics produced by Jerry Cahill
  • CF Wind Sprints – short videos by BEF Volunteer Jerry Cahill with tips for living with CF
  • Gunnar’s Blog – a personal blog of Gunnar Esiason, Boomer’s son, who has CF
  • Hospital Bags – goodie bags provided to CF patients of all ages during hospital stays
  • Team Boomer – encourages people with CF to be active by participating in events and helping to fundraise
  • Bike 2 Breathe – An annual 500-bike tour to raise awareness for the importance of exercise with CF
  • CF Century Rides – A personal goal of Jerry Cahill’s. Jerry is determined to do a century ride (100 miles bike ride) in all 50 states for CF!
  • CF: Live By Example – A pilot program where people with CF who are living, breathing, and succeeding will ensure parents of newly diagnosed children that CF is only a bump in the road, not a death sentence.
  • Club CF – an online forum where people with CF can share their stories

For more information on The Boomer Esiason Foundation please visit: https://www.esiason.org/

A Brief Historical Timeline of CF Research to Date

Cystic fibrosis care has seen such rapid advances that the average CF patient has experienced a dramatic evolution in treatment strategies in their lifetime. Here are some of the biggest milestones that shaped modern-day CF treatments.

Continue reading A Brief Historical Timeline of CF Research to Date

Newly Discovered CF Mutations Could Be Why Some People with CF are Living Longer

Researchers hypothesize that the newly-discovered mutations help re-hydrate the airways, discouraging bacterial build-up in the lungs.

Despite a narrow average lifespan, there is a big range in how severely cystic fibrosis (CF) affects the lungs and other organs depending on an individual’s specific genetic variation, and even in how long patients sharing the same, most common genetic mutation are able to survive with CF.

This led researchers at Boston Children’s Hospital to wonder if other genetic mutations could be protective against CF’s effects. Recent findings published in the American Journal of Respiratory Cell and Molecular Biology suggest that may be the case.

“There are some patients at one end of extreme severity who need a lung transplant very early in life, then others whose clinical presentation seems to stabilize so that they can live into the fifth and sixth decades of life,” says Pankaj Agrawal, MBBS, MMSc, principal investigator and medical director of The Manton Center’s Gene Discovery Core at Boston Children’s, who was the co-first author on the study.

To find out why, Agrawal and researchers at Boston Children’s — including Ruobing Wang, MD, a pulmonologist, and Craig Gerard, MD, PhD, chief of the Division of Respiratory Diseases — conducted the first-ever longitudinal analysis of genetic modifiers related to CF.

They combed through a population of nearly 600 CF patients registered at the Boston Children’s Cystic Fibrosis Center and found five individuals who stood out because of their advanced age — in their 50s or 60s — and relatively normal lung function.

“Given the large size of our center’s patient population, we were able to find a number of individuals at this rare ‘extreme,'” says Wang, who was co-first author on the paper.

A new hypothesis for mitigating cystic fibrosis

To discover the genetic variants, the researchers collected blood from these patients and performed whole exome sequencing on their DNA, analyzing the “coding” section of the genome that is responsible for most disease-related mutations.

Sequencing the genes of these five Boston Children’s patients — a cohort known as “long-term non-progressors” — the researchers found a set of rare and never-before-discovered genetic variants that might help explain their longevity and stable lung function.

The gene variants are related to so-called epithelial sodium channels (ENaCs), semi-permeable cellular pathways responsible for reabsorbing sodium in the kidney, colon, lung and sweat glands.

“Our hypothesis is that these ENaC mutations help to rehydrate the airways of CF patients, making it less likely for detrimental bacteria to take up residence in the lungs,” says Wang.

The discovery brings ENaCs into the limelight as a potential new therapeutic target.

“For example, if we could target ENaCs with a small molecule or an antibody-based drug, we might be able to incur a protective effect against CF’s progression,” says Agrawal, who is also a physician in the Boston Children’s Division of Newborn Medicine.

Based on their findings, the team is now doing further studies to analyze the genetics of patients at the other end of the CF spectrum — those with extremely severe clinical presentation of symptoms at a young age.

Story Source:

Boston Children’s Hospital. “Some people with cystic fibrosis might live longer because of genetic mutations: Researchers hypothesize that the newly-discovered mutations help re-hydrate the airways, discouraging bacterial build-up in the lungs.” ScienceDaily. ScienceDaily, 25 October 2017. <https://www.sciencedaily.com/releases/2017/10/171025150620.htm>.

Materials provided by Boston Children’s HospitalNote: Content may be edited for style and length.

Live Stream the North American CF Conference Tomorrow for Free!

The North American CF Conference (NACFC) provides a collaborative and educational forum for all CF professionals. The educational elements of the meeting program are targeted to physicians, nurses, research scientists, respiratory therapists, physical therapists, nutritionists, social workers, and pharmacists. Continue reading Live Stream the North American CF Conference Tomorrow for Free!

Cystic Fibrosis Foundation to Give $3 Million for Novel CFTR Therapeutic

Arcturus Therapeutics, Inc. (“Arcturus” or the “Company”), a leading RNA medicines company, today announced that it has entered into a research agreement with Cystic Fibrosis Foundation Therapeutics Inc. (CFFT), the nonprofit drug discovery and development affiliate of the Cystic Fibrosis Foundation in which CFFT will pay up to $3 million to advance LUNAR-CF, a novel messenger RNA (mRNA) therapeutic formulated with Arcturus’ LUNAR™ delivery technology.

Continue reading Cystic Fibrosis Foundation to Give $3 Million for Novel CFTR Therapeutic

USACFA Scholarship Open for Applications!

USACFA Scholarship Opens Today, June 1st 2017-June30th for Fall 2017!

Please share with young adults who would be interested and qualified!

The United States Adult Cystic Fibrosis Association (USACFA) is excited to offer the Lauren Melissa Kelly Scholarship award for the Fall semester 2017. The scholarship will range from $1500 to $2500 and be awarded to adults with cystic fibrosis who are pursuing career certifications, associates, and bachelor’s degrees.

Criteria:

  • The individual must be a United States Citizen and over the age of 18 years old.
  • The individual must have a positive diagnosis of cystic fibrosis.
  • The individual must be pursuing a bachelor’s degree, associate’s degree, or certificate.
  • The individual should not be an immediate family member of someone on the USACFA board.

Requirements to include in the application:

  • The USACFA Scholarship application form (includes the 3 essays)
  • A copy of an official transcript from high school (and current college if you have completed coursework)
  • A copy of proof of enrollment for the Fall 2017 or Spring 2017 semester
  • A resume
  • A letter from the doctor/clinic on letterhead confirming cystic fibrosis diagnosis
  • A headshot

Deadlines:
ALL requirements must be sent in PDF or other appropriate digital format to scholarships@usacfa.org by Friday, June 30th, 2016 at 11:59 pm EST.

Application Form and Instructions

  1. Download our US Adult CF Association Scholarship Application 2017 form to your computer.
  2. Open and fill out the application form using your computer.
  3. Once the form is completed, please save the file.
  4. Make sure all other requirements (from above) are completed in an appropriate digital format and attach them to a single email sent to scholarships@usacfa.org.

 

USACFA Scholarship Opens June 1st 2017-June30th for Fall 2017!

Please share with young adults who would be interested and qualified!

The United States Adult Cystic Fibrosis Association (USACFA) is excited to offer the Lauren Melissa Kelly Scholarship award for the Fall semester 2017. The scholarship will range from $1500 to $2500 and be awarded to adults with cystic fibrosis who are pursuing career certifications, associates, and bachelor’s degrees.

Continue reading USACFA Scholarship Opens June 1st 2017-June30th for Fall 2017!

You are invited to attend a free web-cast event SATURDAY, APRIL 22, 2017

RARE LUNG DISEASES PATIENT EDUCATION DAY ON CYSTIC FIBROSIS, CHILDREN’S INTERSTITIAL LUNG DISEASE AND PRIMARY CILIARY DYSKINESIA

REGISTER NOW AT:
https://attendee.gotowebinar.com/register/6993341835513746691

This event is co-sponsored by the American Thoracic Society, the Cystic Fibrosis Foundation, the Children’s Interstitial Lung Disease Foundation and the Primary Continue reading You are invited to attend a free web-cast event SATURDAY, APRIL 22, 2017

NEW Cystic Fibrosis Step-by-Step Video Series Launches Today!

Cystic Fibrosis Step-by-Step: What is Cystic Fibrosis?

The Cystic Fibrosis Step-by-Step video podcast series was created by the Boomer Esiason Foundation to help CF patients and families develop routines and guidelines to help them succeed and to answer basic questions that arise regularly.
https://www.youtube.com/watch?v=__m7G9KEsL8&feature=youtu.be
Continue reading NEW Cystic Fibrosis Step-by-Step Video Series Launches Today!