PCD Foundation

Funding Opportunity: ATS/Margaret W. Leigh/PCDF Foundation Early Career Investigator Award. The PCD Foundation is pleased to partner with the American Thoracic Society to offer this grant. Click for details - https://mailchi.mp/pcdfoundation.org/mleigheciagrant

Good morning PCD family. Quick reminder for you:

Research participants are still needed for PCD studies. It is hard to recruit enough PCD patients for open studies, so if you can help please check out open studies on ClinicalTrials.gov (link below).

https://www.clinicaltrials.gov/search?cond=Primary%20Ciliary%20Dyskinesia

ClinicalTrials.gov

Take advantage of this today!
Shop at: https://www.breatheforpcd.com/shirt-designs

All profits from the sales of Breathe for PCD shirts go to the PCD Foundation!

ICYMI- Fueling Research in PCD webinar recording - https://mailchi.mp/pcdfoundation.org/register-for-a-pcd-webinar-6247744

Please join us for this important webinar. Learn more about the importance of research, including the crucial role of patients. John Matthews from ReCode Therapeutics will share a vital update on the RCT1100 study.

As a reminder, RCT1100 is the first clinical evaluation of an inhaled mRNA-based therapy designed to restore ciliary function in people with PCD.


https://mailchi.mp/pcdfoundation.org/register-for-a-pcd-webinar-6245780

Save the Date! The PCD Foundation’s signature event will take place on Friday, November 8, 2024 in Chicago, IL. We hope you will join us for An Evening to Ignite the Future, and help spark progress toward a cure for PCD!

Register today: Fueling Research in PCD webinar! Learn more about the importance of research, including the crucial role of patients. ReCode will also share important updates on the RCT1100 study. June 6th - https://mailchi.mp/pcdfoundation.org/register-for-a-pcd-webinar-6245408

In case you missed it! Recruitment has begun for the ReCode Therapeutics RCT1100-101 PCD SAD study at the PPD Phase 1 Unit in Las Vegas. You may recall, the first patient was dosed in the US on December 28th. See the press release below. This therapy targets the underlying genetic defect that causes PCD with the goal of restoring ciliary function. This phase one trial will evaluate the safety and efficacy of the mRNA therapy in individuals with PCD caused by genetic variants on the DNAI1 gene.

If you are an adult PCD patient with PCD-causing variants on the DNAI1 gene and would be interested in participating in this trial, please contact ReCode directly at [email protected].
If you are interested in participating in this trial but are not sure whether you have variants on DNAI1, genetic testing is available through the ThinkPCD program by Sano Genetics, sponsored by ReCode, for patients who meet eligibility criteria.
Additional study details are available at the ClinicalTrials.gov link below.

https://recodetx.com/recode-therapeutics-doses-first-patient-in-phase-1-clinical-study-of-novel-mrna-based-therapy-for-the-treatment-of-primary-ciliary-dyskinesia/
https://www.thinkpcd.com/
https://clinicaltrials.gov/study/NCT05737485

We’re in San Diego for the American Thoracic Society Conference 2024. If you’re here, stop by our booth #711. Learn more about our Clinical Centers Network and the PCDF Registry.

We’re in San Diego for the American Thoracic Society Conference 2024. If you’re here, stop by our booth #711. Learn more about our Clinical Centers Network and the PCDF Registry.

Primary ciliary dyskinesia is a progressive disease. It will progress at different rates, in individual ways for each person. PCD patients can and do thrive! There is a lot of 'behind the scenes' work that goes into thriving. That work is constant, daily, forever and worth every breath. 💪

Fitting that evening breathing treatment in is hard sometimes. Between school, homework, evening soccer practice then dinner. Oy. Last night I had to have the PCD is a progressive disease talk with him…again. It doesn’t always stick. The fact that it is very likely going to get harder for him as he gets older. That he might feel sicker more often and have a harder time fighting sickness. Which is why it is SO important to give focus to effective huffs and coughs and to cough and spit until it feels clear so that he can slow down that progression. This moment in time that the photo captured is NOT a good representation of this focus, but of the struggle being real.

We are proud to welcome Connecticut Children’s and UConn Health to the PCD Foundation Clinical and Research Centers Network! With the addition of both an accredited pediatric and adult center, we are expanding access to high-quality diagnosis and improving the quality and continuity of care for individuals with PCD. Under the leadership of Dr. Melanie Collins and Dr. Mark Metersky, PCD patients across the Northeast can count on comprehensive care as they transition from pediatric to adult services.

“Rare disorders like PCD are difficult to diagnose and treat. They require the specialized expertise of exceptional teams dedicated to improving the health and long-term outcomes of these challenging patients,” said Michele Manion. “We are delighted to have found just such a team at Connecticut Children’s and UConn Health and look forward to a long and productive partnership.”

For more information visit https://www.connecticutchildrens.org/news/connecticut-childrens-and-uconn-health-launch-states-only-primary-ciliary-dyskinesia-center.

It is National Patient Experience week! Thank you for capturing one patient's primary ciliary dyskinesia experience.

ReCode shares-
"Patient Experience Week honors the profound daily impact healthcare professionals have on the patient experience. As this year’s commemoration begins, we’re proud to introduce you to Billy Anton, Chairman of the and a patient advocate living with Primary Ciliary Dyskinesia (PCD). We spent the last week with Billy, learning about the day-to-day management of his PCD, his treatment options, and his outlook on the future of potential breakthroughs.

Full video coming soon!"

Anonymous survey opportunity!

"We are physician researchers at the University of North Carolina School of Medicine and want to ask your help. We have a very short survey (link below) which we hope to use to learn about old drugs that might help treat new problems, a process called drug repurposing. We are interested in repurposing drugs, herbal medicines and over the counter medicines. We are interested in finding new treatments for rare disorders such as what your group is interested in as well as common disorders such as obesity and mental illness."

https://redcap.link/globaldrugrepurposing

'Drug repurposing' refers to efforts to match existing drugs with conditions for which they are not currently used. When a drug is approved for market by the FDA, the approval is usually based on showing that it is effective in one or more conditions, but it is possible that drugs approved for one or two conditions may also be helpful in other conditions.

'Crowdsourcing' refers to using the power of many voices to find important themes. By crowdsourcing information regarding treatments currently used by people with a variety of disorders, the hope is to find potential matches between therapies and conditions for further research.

Input from patients and families with PCD in efforts like this is important. Please consider sharing your voice by completing this short survey from Julie Blatt, MD, and her team at the University of North Carolina, Chapel Hill.

Are you in San Diego or the surrounding areas? American Thoracic Society-Public Advisory Roundtable (ATS-PAR) and the PCD Foundation invite you to spend a morning with lung disease experts learning about 'Future of Lung Health' at the ATS-PAR 'Patients and Experts Forum' Event, Saturday, May 18th in San Diego, CA. - https://mailchi.mp/pcdfoundation.org/patients-experts-forum-6239216

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Support the PCD Foundation!
Shop at: https://www.breatheforpcd.com/shirt-designs

Our European colleagues shared an update and summary of the recent activities of BEAT PCD ERS CRCA. We encourage you to read all about the exciting work happening in PCD around the world, including a feature of our recent PCD On the Move Scientific Conference!


https://static1.squarespace.com/static/5589743ee4b0e096ba14f6d5/t/66013861d3b10e21167bdcbf/1711356007801/Issue+8+v.2+080324+%281%29.pdf

The Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) was recently featured in the Rare Diseases Clinical Research Network (RDCRN) newsletter. Read more about what our PCD research partners are doing to better understand PCD and how current studies will help contribute to clinical trial readiness. PCD Foundation Board Member, Tori Eastvold, also shares her perspective as a PCD family member participating in PCD studies.
https://www.rarediseasesnetwork.org/news/impact-features/2024-03/primary-ciliary-dyskinesia-over-time-what-were-learning-natural?utm_source=Rare+Diseases+Clinical+Research+Network&utm_campaign=342195b90f-spotlight-march-2024&utm_medium=email&utm_term=0_bfaa0fd897-342195b90f-181668873

Clinical trials for gene-based corrective therapies for PCD have begun in the US and will soon launch in the UK. These early trials are focused on safety and efficacy and include only a few patients with PCD-causing variants on a single gene (DNAI1). However, larger trials that will include more patients will follow on as these small trials are completed.

To be eligible for these trials and for the therapies they will hopefully produce, patients with PCD will need to know which gene/variants are responsible for their PCD. To facilitate genetic testing, we are working with two companies to provide free genetic testing for people diagnosed with PCD.

1. Adults over 18 only, for now:
ThinkPCD: https://www.thinkpcd.com/

The ThinkPCD program is run by ReCode Therapeutics, one of the companies working on mRNA therapies for PCD. ThinkPCD is a sponsored program working with Sano Genetics to provide comprehensive PCD genetic testing.

2. All ages--Rare Genomes Project at Broad Institute (MIT):
https://raregenomes.org/

This is a sponsored program of the Chan-Zuckerberg Institute (CZI) that uses whole genome sequencing to identify disease-causing variants in rare conditions.

Who should apply for these programs:

1. Anyone who has not had genetic testing for PCD
and/or
2. Anyone with a non-confirmatory PCD genetic test more than 3 years ago
and/or
3. Anyone whose genetic testing for PCD showed VUSs (variants of uncertain significance)
and/or
4. Anyone who is interested in accessing genetic testing for PCD at no cost

Please note that a negative or inconclusive genetic test for PCD does NOT mean you do not have PCD. The genes/variants involved in about 30% of individuals with PCD have yet to be identified. One goal of mass screening programs like this is to help identify currently unidentified genes and variants. With gene-based therapies a reality for PCD right now, we urgently need to close this gap and your assistance is much appreciated!

Please contact Lynn or Michele at the PCD Foundation if you have any questions by DM or by email: [email protected]

The PCD Foundation is honored to be part of Katie Couric Media’s editorial series for Rare Disease Month! Special thank you to Chan Zuckerberg Initiative for this opportunity to share our story as a Rare As One Project grantee.

We are grateful to both Katie Couric Media and Chan Zuckerberg Initiative for your partnership in highlighting the rare disease journey and our efforts to raise awareness, advance research and find a cure!

Her Child Was Suffering, and Nobody Could Tell Her Why She was a single working mom, but her daughter needed almost constant care. Told there was no solution, she took matters into her own hands.

The White House will be hosting a Rare Disease Forum this evening. The event is aimed at highlighting the current policy and research opportunities to meet the urgent needs of rare disease patients.

Michele Manion will be in attendance representing the PCD Foundation and the PCD community. We are honored to be part of this important discussion!

You can join, too! Tune in to watch the White House Rare Disease Forum – Livestream Today, Wednesday, 2/28 at 5:30PM EST.
Agenda listed in the comments!


https://www.youtube.com/watch?v=uG43oLZzeBE

There is still time to register!!!

HAPPENING TODAY!☀️

Join us for another Lung Disease Week webinar, co-hosted by the ATS Public Advisory Roundtable, the PCD Foundation, and the Cystic Fibrosis Research Institute. The webinar topic is: Addressing Challenging Infection. Details below!👇

📆Feb. 20, 2024
🕐3pm ET
🔗Register: https://bit.ly/3T2uK5h

ATS Lung Week Webinar! Addressing Challenging Infection, February 20. Register today and get your questions ready.- https://mailchi.mp/pcdfoundation.org/lung-week-ats-webinar-6233499

Chaired by Wilfredo De Jesús Rojas,MD and Anne Griffiths, MD

Yesterday, we were ready to meet & greet attendees & speakers from around the world for the beginning of PCD on the Move 2024 in beautiful Puerto Rico! 🇵🇷

Reminder! Still time to register. ReCode Therapeutics Genetics for PCD Webinar January 19th - https://mailchi.mp/pcdfoundation.org/register-for-a-pcd-webinar-6230667