Highly accurate biomarker found for the pulmonary fibrosis of HPS
Journal article: Choline and CCL22 Are Prognostic Blood Biomarkers for Hermansky-Pudlak Syndrome Pulmonary Fibrosis
Link: https://academic.oup.com/ajrcmb/article-abstract/74/1/80/8438562
One-Sentence Takeaway: This study found that two substances in the blood—CCL22 and choline—may help predict and track lung fibrosis in people with HPS-1, and it identified iNOS as a potential target for future treatments aimed at preventing lung scarring.
Summary: Researchers are looking for blood markers (biomarkers) that can help doctors predict and track lung scarring, also known as pulmonary fibrosis (PF). Because the disease progression is predictable, HPS-1 provides a useful model for studying PF.
The researchers analyzed blood samples from people with:
- HPS-1 without lung disease
- HPS-1 with pulmonary fibrosis (HPSPF)
- Other forms of HPS
- Idiopathic Pulmonary Fibrosis (a more common type of PF)
- Healthy volunteers
Using advanced laboratory techniques, they examined hundreds of molecules in the blood and compared the results with lung function tests and patient age.
What They Found
As pulmonary fibrosis developed and worsened in HPS-1 patients, several important changes occurred in the body’s metabolism and inflammatory pathways.
Two blood markers stood out:
- CCL22, an immune system signaling protein
- Choline, a nutrient involved in cell function and metabolism
Both markers were:
- Higher in patients who had pulmonary fibrosis
- Associated with worsening lung function
- Able to accurately predict which HPS-1 patients had developed pulmonary fibrosis
This suggests that measuring CCL22 and choline in blood could help doctors identify patients at risk for lung fibrosis and monitor disease progression.
Additional Findings
The researchers also found that HPS-related pulmonary fibrosis shares some biological features with progressive pulmonary fibrosis, suggesting that the diseases may involve similar mechanisms.
They identified an enzyme called inducible nitric oxide synthase (iNOS) that appears to trigger the release of several molecules that promote fibrosis and inflammation, including:
- CCL22
- CCL24
- IL-18
- IL-1α
- IL-1β
Why This Matters
The study suggests that:
- CCL22 and choline may be useful blood tests for predicting and monitoring lung fibrosis in people with HPS-1.
- HPS-related pulmonary fibrosis and progressive pulmonary fibrosis may develop through similar biological pathways.
- Blocking iNOS could be a promising new treatment strategy to slow or prevent lung scarring in HPS patients.
New York State Rare Disease Advisory Council
Ashley Appell appointed to New York State Rare Disease Advisory Council
Ashley Appell, the original member of the HPS Network, was nominated to serve on the recently created New York State Rare Disease Advisory Council by James McDonald, M.D., M.P.H., the New York Commissioner of Health. Ashley Appell worked tirelessly to advocate for the creation of the advisory council. She, in partnership with other advocates, lobbied the New York legislature for several years asking for the creation of the council. Ashley Appell is the daughter of Donna Appell, the Founder and Executive Director of the HPS Network.
Supplemental Oxygen Access Reform (SOAR) Act
HPS Network supports SOAR Act (S. 1406, H.R. 2902)
The HPS Network joins with a coalition of other patient advocacy groups and interested professionals to support the Supplemental Oxygen Access Reform Act or SOAR Act (S. 1406, H.R. 2902). The legislation would reform Medicare supplemental oxygen benefits to ensure Medicare beneficiaries continue to have real access to essential medical treatment. Although the bill does not address private insurers, it is common practice for private insurers to follow Medicare’s lead.
“This is important legislation for the Hermansky-Pudlak syndrome community because so many of us eventually require oxygen therapy. The system that provides oxygen in our country has been broken for years. It can leave patients unable to get what they need, and condemns many patients on oxygen being unable to participate in routine activities of daily living outside of their homes,” says Heather Kirkwood, Chairperson of the HPS Network’s Board of Directors and a patient who has used oxygen for more than ten years.
This Legislation would:
- Ensure supplemental oxygen is patient-centric by:
- Changing “home oxygen” to “supplemental oxygen” to ensure people requiring oxygen can live full lives outside of their primary residence.
- Creating a patients’ bill of rights to ensure care is focused on patient needs
- Ensure access to liquid oxygen for patients for whom it is medically necessary.
- Create a statutory service element to provide adequate reimbursement for respiratory therapists to ensure patients have access to their expertise
- Ensure predictable and adequate reimbursement and to protect against fraud and abuse, establish national standardized documentation requirements that rely upon a template rather than prescriber medical records to support claims for supplemental oxygen suppliers.
If you want to write to your Congressional representatives and ask them to co-sponsor the SOAR Act (S. 1406, H.R. 2902), you can use one of these sample letters:
2025 NORD Rare Impact Award Winner
HPS Network honored by National Organization for Rare Disorders
The HPS Network is one of the honorees of this year’s Rare Impact Awards given by the National Organization for Rare Disorders (NORD®). Each year NORD recognizes rare disease heroes —individuals or groups who are driving progress and making a difference on behalf of the more than 30 million Americans living with rare diseases. The HPS Network is being honored this year with the Abbey S. Meyers Leadership Award which honors a NORD patient advocacy organization member that has made significant contributions to the rare disease community through strong leadership in advocacy, education, research, patient support services, or raising awareness.
Running with a Purpose
Dr. Wilfredo De Jesus Rojas runs with a purpose honoring patients with HPS at Bay to Breakers, 2025
Dr. Wilfredo De Jesus Rojas ran the 15K Fun Run, called Bay to Breakers, in honor of the Hermansky-Pudlak Syndrome community during the American Thoracic Society’s international meeting, May 16 – 21, 2025 in San Francisco, CA. Let him tell us about it in his own words:
As a pediatric pulmonologist, my daily work centers on the breath—on helping children with rare and chronic lung diseases take each breath more freely. But on this day in San Francisco, I ran not for myself, but for those whose breaths are often labored, limited, or lost to time and misdiagnosis.
Participating in the iconic Bay to Breakers race, I proudly wore the message “Dare to Be Rare” across my chest in honor of my patients with Hermansky-Pudlak Syndrome (HPS)—a rare genetic disorder that affects the lungs, among other organs. For these patients, every step can feel like a marathon. So I ran those 15 kilometers carrying their stories, struggles, and hopes.
Running through the streets of San Francisco, I wasn’t just chasing a finish line. I was advancing a movement—for awareness, for earlier diagnosis, and for better care. HPS is more than a medical condition—it’s a challenge of equity and recognition, especially in underserved communities.
Let this run be a call to action: to clinicians, researchers, families, and policymakers. Rare diseases are not rare to those living with them. Together, we must raise awareness, empower our communities, and ensure no child’s breath goes unheard – Wilfredo De Jesus Rojas, MD, FAAP, Pediatric Pulmonologist
HPS Research Funding Opportunity
The Peer Reviewed Medical Research Program (PRMRP) is accepting letters of intent for research grants. Hermansky Pudlak Syndrome is one of the diseases eligible to be considered for funding. This year, the program is accepting transitional and clinical research proposals.
Letters of intent are due June 9, 2025. To submit a letter of intent, go to:
https://ebrap.org/eBRAP/public/ProgramFY.htm?programFYId=583103
HPS Network joins sponsors of the Gordon Research Conference
HPS Network joins sponsors of the Gordon Research Conference (GRC) Promoting Health Across the Lifespan in Developing and Aging Lungs
The HPS Network will be one of the sponsors for the upcoming Promoting Health Across the Lifespan in Developing and Aging Lungs, to be held July 27 – August 1, 2025 in Lucca, Italy.
The Lung Development, Injury and Repair GRC is a premier, international scientific conference focused on advancing the frontiers of science through the presentation of cutting-edge and unpublished research, prioritizing time for discussion after each talk and fostering informal interactions among scientists of all career stages. The conference program includes a diverse range of speakers and discussion leaders from institutions and organizations worldwide, concentrating on the latest developments in the field. Several of the presenters have also been involved in the HPS Network Meeting of the Minds, an annual research meeting exploring science that can lead to better treatments, and someday a cure, for HPS.
The Lung Development, Injury and Repair GRC conference topics span basic and translational aspects of the inductive developmental interactions that inform adult lung repair and regeneration. Dysregulation of such interactions is a hallmark of both aging and the causes of chronic lung diseases.
HPS Network supports virtual pulmonary rehabilitation bill
HPS Network supports virtual pulmonary rehabilitation bill
Pulmonary rehabilitation is a critical medical service to improve the quality of life for many people living with chronic lung disease. Medicare covers pulmonary rehabilitation delivered in certain settings, typically hospitals and clinics. To improve access to care during the pandemic, CMS created special rules to cover several medical services delivered via telehealth, including pulmonary rehabilitation administered by hospitals via two-way teleconferencing between a patient and a licensed healthcare provider. This proved especially helpful to people with Hermansky-Pudlak Syndrome who are mostly legally blind and often are not able to drive. By offering this therapy virtually, it has made it easier for people with HPS to access pulmonary rehabilitation. The Sustainable Cardiopulmonary Rehabilitation Services in the Home Act would improve patient access to cardiopulmonary rehabilitation services by permanently allowing Medicare patients to receive cardiopulmonary rehabilitation services via virtual telecommunications technology (real-time, audio-video) in the beneficiary’s home (which would serve as the originating site), wherever the home is located throughout the country, including when those services are furnished by hospitals as distant site providers. Additionally, virtual direct supervision by physicians, physician assistants, nurse practitioners, or clinical nurse specialists would be allowed through two-way audio-visual communications technology.Although this bill only applies to Medicare, often other insurance companies follow Medicare’s lead. Ask your Congressional representatives in the House to co-sponsor H.R. 783. They may contact, Tyler Mortier with Representative John Joyce or Dillon Cooke with Representative Scott Peters. Please also ask your senators to co-sponsor S. 248. They may contact Jacob Danegger with Senator Marsha Blackburn or Ruth McDonald with Senator Amy Klobuchar.
Link to sample letter for the House of Representatives
Urge Congress to protect crucial funding for NIH and FDA
Urge Congress to protect crucial funding for NIH and FDA
The Fiscal Year 2026 (FY26) appropriations process continues! Congress has important decisions to make in the upcoming months regarding the fiscal year 2026 funding for the National Institutes of Health (NIH) and the Food and Drug Administration (FDA). Send a message to your Senators and Representative today urging them to make rare disease health a priority by supporting robust funding for the NIH and FDA. Many treatments for rare diseases have been developed from the work done by the NIH, and FDA plays a critical role in delivering on the promise of these new treatments. It is critically important to ensure this support continues in order to help current and future generations.
Follow the link below to NORD’s website which offers an auto-generated letter you can send to both your Senators and your Congressman. Just type in your name, and address and fill in the blanks. https://rarediseases.org/driving-policy/take-action/#/257
Protect Medicaid for Rare Disease Patients
Protect Medicaid for Rare Disease Patients
In the coming months, Congress could vote on legislation that would cut Medicaid coverage and funding from millions of rare disease patients. We need your help to tell members of Congress to vote NO on cutting Medicaid coverage for those living with rare diseases and their families.
To easily send a letter to our Congressional representatives, visit the National Organization for Rare Disorders advocacy page on their website here: https://rarediseases.org/driving-policy/take-action/#/250