Not So Rare: The Paradox of Rare Diseases

Not So Rare: The Paradox of Rare Diseases

The Paradox Of Rare Diseases

Welcome to the very first edition of Pediatric & Rare Liver Diseases News! As we expand our offerings for and about this community, Global Liver Institute is also committed to keeping you informed about what is happening with pediatric and rare liver diseases.
This edition is the first monthly community-specific newsletter within our new structure. Check out upcoming events in the pediatric and rare liver disease field, a patient’s perspective, exciting news, and more below.
Not So Rare: The Paradox of Rare Diseases
All too often, pediatric and rare liver diseases are thrown together as if they are just one issue, with one need and one solution–however, nothing could be further from the truth. The unmet needs in the pediatric and rare liver space are myriad, and the issues faced by patients, and their families, sit in a spectrum as long as it is wide. In Rare Liver Diseases Month this February, we brought to light and sought to address those challenges through our month-long campaign #RareAware.
Having a rare disease is not rare. In fact, it is incredibly common: 25-30 million Americans live with a rare disease. It is as if every time you step onto a full elevator, one of your fellow riders has a rare disease.
Despite the high numbers, little is generally known about rare liver diseases, such as the names of conditions or places of support or information. This was the driver in our #DiseaseoftheDay campaign, in which we used February to highlight 28 different rare liver conditions and places of knowledge or support.
Living with a rare condition entails a powerful mix of emotional, psychosocial, and physical challenges; patients must learn to cope with each aspect in their own time. To this end, we incorporated two new elements in the #RareAware campaign to support patients on their journey. GLI Living sessions helped patients explore self-care and empowered them with tools and techniques to aid them on their journey. We also brought together pediatric patients and their young family members in weekly book talks to learn and share all about how being a rare disease patient makes them not abnormal, but rather extraordinary.
In parallel with FDA, GLI convened the Primary Biliary Cholangitis (PBC) community for an Externally-Led Patient-Focused Drug Development Meeting (EL-PFDD). For almost six hours, patient and clinical experts from around the world shared their experiences to highlight unmet needs in current and future PBC treatments, clinical trials, and patient participation. Combined with recent data from PBC patient survey, we built compelling arguments to include more patient input into trials design, to include a more diverse patient group, to minimize the use of liver biopsy (e.g. in participation criteria), and to use real-world data as a synthetic control instead of “standard-of-care” placebo arms in disease progression trials. This has opened discussions with trial sponsors and regulators who intend to make the changes deemed most important by patients, bringing the focus to where it all begins: with a patient.

Donna R. Cryer, JD
President & CEO
Global Liver Institute

Upcoming Events

Pediatricandrare Logo1

Pediatrics & Rare Council meeting, virtual Wednesday May 18.

Please contact for more information.

Patient Perspective

Bob Tyler

Patient Name: Bob Tyler

Disease(s): PBC/AIH patient of 9 years

“As rare as [PBC] is, we have people fighting for us daily and I’m forever grateful for that. I also realize that with my daily struggles, we have medicine that slows this progression down that allows me to live the best daily life I can. Don’t misunderstand me, it’s hard on a daily basis, real hard especially knowing this is now my life. But reaching out for support and education and advocating for myself with my doctors allows me to do and be the best I can in my control.”

Read more about a day in Bob’s life with PBC

Share your story with us!

GLI Partner Highlights

Issue 022 Spring RARE Liver Front Cover

We are delighted to bring to your attention the most recent edition of the Rare Revolution Magazine, focused on rare liver diseases. Not only does it feature much of GLI’s work during Rare Liver Disease Month, but also highlights the incredible work of a number of members of GLI’s Pediatric and Rare Liver Diseases Council.

Rare+Rev+EL PFDD+Square

Research & Development

So much research is being undertaken in rare liver disease currently that a comprehensive list would fill a full newsletter! However, a quick review on shows current trials in diseases from Autoimmune Hepatitis (AIH), Alagille Syndrome, Biliary Atresia, through PBC, PSC and PFIC, to Zellweger Spectrum Disorder and many more.

Why is this important? Great research conducted with patients can make the difference. October brought us a brand new treatment for pediatric liver disease: Livmarli–the first ever FDA-approved therapy in Alagille Syndrome–was approved to treat chronic itch (pruritus) in affected children. We congratulate our partners working in the incredibly difficult field to improve the lives of children and caregivers alike.

Finally, EASL will host their International Liver Congress (ILC) June 22-26, and GLI will be represented: in person, virtually, and in at least one abstract on the patient experience. We would love to see you there, so please say hello and let us know how we can work together.

Not So Rare: The Paradox of Rare Diseases

Global Liver Institute Holds Primary Biliary Cholangitis (PBC) Externally-Led Patient-Focused Drug Development (EL-PFDD) Meeting

On February 4, 2022 10 AM ET, Global Liver Institute led an Externally-Led Patient-Focused Drug Development Meeting (EL-PFDD) on Primary Biliary Cholangitis (PBC). This online event is open to the public with registration required.

An EL-PFDD meeting of this magnitude will allow the U.S. Food and Drug Administration (FDA) and other stakeholders across the medical field to obtain a wide range of patients’ and caregivers’ input on PBC, including their perspectives on their condition, its impact on daily life, and the urgency around developing therapies.

The patient perspective is vital in helping to provide context when FDA makes regulatory decisions for new drugs. PFDD meetings give FDA and other key stakeholders, including medical product developers, health care providers, federal partners, an important opportunity to hear directly from patients, their families, caregivers, and patient advocates about the symptoms that matter most to them, the impact the disease has on patients’ daily lives, and patients’ experiences with currently available treatments. This input can inform FDA’s decisions and oversight both during drug development and during review of a marketing application.

Take the Survey (Patients and Caregivers Only)

Not So Rare: The Paradox of Rare Diseases

Support PBC Research: What to do after #RAREDISEASEDAY


Rare Disease Day, celebrated across social media and IRL on the last day of the shortest month of the year, is a growing global movement, shining a light on the thousands of conditions cumulatively affecting tens of millions of people.

Primary biliary cholangitis (PBC) is one of those rare diseases. PBC, a chronic, progressive, autoimmune liver disease that disproportionately affects women in their childbearing years can lead to inflammation of the small bile ducts leading into the liver and may ultimately cause such scarring, cirrhosis, that liver transplantation is the only option. There are few medications available to treat PBC.

For those wondering what to do the next 364 days of the year until the next Rare Disease Day, consider participating in a clinical trial. An essential theme for 2018’s Rare Disease Day is “Patient Involvement is the Key to Effective Research for Rare Diseases”. There could not be a truer statement. More and more patients are participating in breakthrough sponsor led clinical research studies to help find effective treatments for PBC and other rare liver diseases.  Patients who have not experienced an adequate response with Ursodeoxycholic Acid (UDCA or Urso) have a unique opportunity to participate in an actively enrolling clinical study, being conducted by Genfit.  If you and your clinician agree that you have not responded adequately to Urso, then you may want to consider participating in this study of the drug, Elafibranor, and its effects on PBC while being taken in combination with Urso.

Patient participation in clinical trials by working with sponsors like Genfit, and experienced clinical research doctors is key to gaining new knowledge of PBC, and ultimately has the potential of bringing in new effective treatments for PBC. 

Do You Have Pbc
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One action you can take today

If you are or know of an adult in the US, UK, Germany, Spain, or France, who has been diagnosed with PBC and who has not responded to Ursodeoxycholic Acid (UDCA or Urso) contact one of the sites listed below for more information on this ongoing clinical research study.

For more information, contact Atif Mohammad at

Participating Locations

United States, Arizona

Mayo Clinic in Arizona
Phoenix, AZ 85054
Contact: Elizabeth J. Carey, MD    480-342-2000   

United States, Georgia

Piedmont Hospital
Atlanta, GA 30309
Contact: Dr. Sheela Reddy    404-605-4168 

United States, Florida

Schiff Center for Liver Diseases
Miami, FL 33136
Contact: Cynthia Levy, MD    305-243-4615   

Cleveland Clinic
Recruiting Soon
Weston, FL 33331
Contact: Dr. Bobby Zervos     954-659-5888 

United States, Massachusetts

Massachusetts General Hospital
Boston, MA 02114
Contact: Daniel Pratt, MD    617-724-3836      

Beth Israel Deaconess Medical Center
Boston, MA 02215
Contact: Alan Bonder, MD    617-632-1086    

United States, North Carolina

Asheville Gastroenterology
Asheville, NC 28801
Contact: Dr. Adam Zivony   828-350-3671

United States, Virginia

University of Virginia
Charlottesville, VA 22908
Contact: Stephen H. Caldwell, MD    434-924-2626

Virginia Commonwealth University
Richmond, VA 23298
Contact: Velimir Luketic, MD    804-828-4060    


Clinic for Gastroenterology and Hepatology
Köln, Germany, 50937
Contact: Münevver Demir, MD    +49 (0)2214 787334      

Johannes Gutenberg University
Mainz, Germany, 55131
Contact: Jorn M Schattenberg, MD    +49 (0)6131 176831      

Goethe University Hospital
Recruiting Soon
Frankfurt, Germany
Contact: Tania Welzel, MD

United States, New York

Northwell Health – Sandra Atlas Bass Center for Liver Disease
Manhasset, NY 11030
Contact: Henry C. Bodenheimer, MD    516-562-4664     

United States, Texas

University of Texas Southwestern Medical Center
Dallas, TX 75390
Contact: Marlyn Mayo, MD    214-648-2725

Baylor College of Medicine – Advanced Liver Therapies
Houston, TX 77030
Contact: John M. Vierling, MD    832-355-8966

United States, Washington

Swedish Organ Transplant and Liver Center
Seattle, WA 98104
Contact: Kris Kowdley, MD    206-386-3880      


Hôpital Saint-Antoine
Recruiting Soon
Paris, France 75012
Contact: Olivier Chazouilleres, MD 


Hospital de la Santa Creu i Sant Pau
Barcelona, Spain, 08025
Contact: Adolfo Gallego Moya, MD    +34 932 919-000      

Liver Unit, University of Barcelona
Barcelona, Spain, 08036
Contact: Albert Pares, MD    +34 932 275-753      

United Kingdom

Queen Elizabeth Hospital
Birmingham, United Kingdom, B15 2GW
Contact: Gideon Hirschfield, MD    +44 (0)121 415-8700      

Addenbrooke’s Hospital
Cambridge, United Kingdom, CB2 0QQ
Contact: George Mells, MD    +44 (0)122 324-5151      

The Royal Liverpool University Hospital
Liverpool, United Kingdom, L7 8XP
Contact: Imran Patanwala, MD    +44 (0)151 706-2000      

Institute of Liver Studies, King’s College Hospital
London, United Kingdom, SE5 9RS
Contact: Michael Heneghan, MD    +44 (0)203 299-7615      

Royal Victoria Infirmary
Newcastle upon Tyne, United Kingdom, NE1 4LP
Contact: David Jones, MD    +44 (0)191 222-8335