listening session

Published April 13, 2021
On February 8, 2021, the US Food and Drug Administration (FDA) held a Listening Session with patients representing the International Pemphigus & Pemphigoid Foundation (IPPF). Patient Listening Sessions are intended to be an opportunity for the FDA’s medical product centers to engage with patients and their advocates. The IPPF session was patient-led, meaning that the IPPF requested and received the permission to share its members’ perspectives with the FDA.

Listening session objective

The objective for this listening session was to have a dialogue with the FDA to share the emotional experience of the patient journey as well as the burden these diseases have on all aspects of a person’s life. This includes the time it takes to get a diagnosis, the burdens of treatment options, and the undertreated areas of the diseases that affect the physical, emotional/psychological, and financial health of five pemphigus and pemphigoid patients.

Summary of topics discussed

Pemphigus and pemphigoid are rare, ultra-orphan, autoimmune, blistering diseases that result in potentially life-threatening destruction of the skin and mucosa. The patient’s immune system makes antibodies that attack healthy cells in the skin or mucous membranes. As a result, skin cells separate from each other, fluid collects between skin layers, and blisters form. These blisters may cover a large area of skin. This results in fragile, extremely tender lesions that do not go away without proper treatment. It takes the average pemphigus or pemphigoid patient five healthcare providers and ten months to obtain a correct diagnosis. Currently, no cure exists for pemphigus or pemphigoid, only treatments and remission.

According to recent literature in the British Journal of Dermatology, pemphigus is rarer than pemphigoid. The approximate incidence of pemphigus is .58 – .80:100,000 people, and the approximate incidence of pemphigoid is 7.3 – 7.93:100,000 people.

These diseases are known to affect people across gender, racial, and cultural lines. However, there are certain groups of people who have a higher incidence of the diseases, such as Eastern Europeans of Jewish descent and people of Mediterranean, Northern India, and Persian descent.

The FDA Listening Session included further discussion on:

  • Diagnostic delays
  • Treatment options
  • Medical burdens
  • Investigational research
  • Mental and social burdens

Read the entire summary of the FDA Listening Session on Pemphigus and Pemphigoid by downloading the PDF.

Cabaletta Bio, Inc., a clinical-stage biotechnology company focused on the discovery and development of engineered T cell therapies for patients with B cell-mediated autoimmune diseases, announced on May 6, 2020 that the U.S. Food and Drug Administration (FDA) has granted Fast Track Designation for DSG3-CAART (Desmoglein 3 Chimeric AutoAntibody Receptor T cells), the Company’s lead product candidate for treatment of mucosal pemphigus vulgaris (mPV), for improving healing of mucosal blisters in patients with mPV.

“We believe that this Fast Track Designation, coming shortly after the Orphan Drug Designation for DSG3-CAART, further demonstrates that mPV is a devastating, rare disease for which patients have limited treatment options resulting in a large unmet need. The Fast Track Designation represents an important next step in our clinical development plans,” said David J. Chang, M.D., Chief Medical Officer of Cabaletta. “We appreciate the benefits provided by this designation, including the opportunity for increased access to the FDA and potential acceleration of our clinical development path and regulatory review process.”

The FDA grants Fast Track Designation to drugs or biologics to facilitate the expedited development and review for therapeutics intended to treat serious or life-threatening conditions and to address unmet medical needs. Companies that receive Fast Track Designation are eligible for several potential benefits including the opportunity for more frequent meetings and interactions with the FDA during clinical development as well as eligibility for accelerated approval and/or priority review, if relevant criteria are met. Companies may also be allowed to submit sections of their Biologics License Application (BLA) on a rolling basis.

Read the full press release. 

Cabaletta Bio, Inc., a clinical-stage biotechnology company focused on the discovery and development of engineered T cell therapies for patients with B cell-mediated autoimmune diseases, announced on January 29, 2020 that the U.S. Food and Drug Administration (FDA) has granted Orphan Drug Designation for the Company’s lead product candidate, DSG3-CAART, for the treatment of pemphigus vulgaris (PV). DSG3-CAART is designed to target the cause of mucosal PV (mPV), B cells that express pathogenic autoantibodies directed against the DSG3 protein, while preserving normal B cell immune function.

“Mucosal pemphigus vulgaris is a rare and potentially fatal, chronic autoimmune disease characterized by the loss of adhesion between cells of mucous membranes, resulting in widespread damage, painful blisters of the mucosal membranes, and increased susceptibility to life-threatening systemic infections,” said David Chang, M.D., Chief Medical Officer of Cabaletta. “For affected patients, despite current treatment options, there is an urgent unmet need for more effective and durable therapies that can provide reliable, complete, and persistent remission from the disease beyond general immune suppression and B cell depletion provided by current treatment options. Orphan Drug Designation is an important recognition for investigational therapies for rare diseases and provides us with potentially valuable benefits as we prepare to initiate the DesCAARTes trial to generate and then report acute safety data from the first cohort of patients by the end of 2020.”

The FDA grants Orphan Drug Designation to drugs or biologics intended to treat or prevent rare diseases or conditions that affect fewer than 200,000 individuals in the United States. This designation qualifies Cabaletta for certain incentives, which may include partial tax credit for clinical trial expenditures, waived user fees and potential eligibility for seven years of marketing exclusivity.

Read the full press release.

On September 12, 2018, the U.S. Food and Drug Administration (FDA) granted an orphan drug designation to Syntimmune Inc.’s SYNT001 for the treatment of pemphigus.

“This is an important milestone for the SYNT001 clinical development program and highlights the high unmet medical need for new therapies with the potential to improve the lives of pemphigus patients and their families,” said Jean-Paul Kress, MD, president and CEO of Syntimmune. “We believe there is significant potential for SYNT001 in pemphigus and other autoimmune diseases and look forward to providing additional clinical data.”

Positive preliminary results from a phase 1b proof-of-concept trial of SYNT001 in patients with pemphigus served as the basis for the approval. In the first cohort, SYNT001 was observed to be well tolerated and induced a rapid reduction in IgG and circulating immune complex levels. In addition, as measured by Pemphigus Disease Area Index (PDAI) score, SYNT001 induced clinical improvement, with clinical effect persisting beyond the treatment period.

Immune Pharmaceuticals, Inc., a biopharmaceutical company developing novel therapeutic agents for the treatment of immunologic and inflammatory diseases, announced today that the U.S. Food and Drug Administration (FDA) has granted Fast Track designation to bertilimumab for the treatment of bullous pemphigoid (BP).

“I am truly grateful that the FDA has granted Fast Track designation to bertilimumab for the treatment of bullous pemphigoid. This important achievement follows the recent granting of Orphan Drug Designation in both the United States and Europe, which together demonstrate the regulatory affairs momentum our team has achieved,” commented Immune’s Interim Chief Executive Officer, Tony Fiorino, MD, PhD. “There is no doubt that bertilimumab development will benefit from the opportunity to have more frequent contact with the FDA, particularly now, as we move forward with a new manufacturing process and plan for a phase 2/3 pivotal study in bullous pemphigoid.”

The FDA’s Fast Track program is designed to facilitate the development and expedite the review of drugs to treat serious conditions that are unmet medical needs.  Fast Track designation enables more frequent interactions with the FDA in order to shorten the development and review process, and may include potential eligibility for Accelerated Approval, Priority Review and Rolling Review.

Read the full press release.

Immune Pharmaceuticals, Inc., a biopharmaceutical company developing novel therapeutic agents for the treatment of immunologic and inflammatory diseases, today announced that the U.S. Food and Drug Administration (FDA) has granted Orphan Drug Designation (ODD) to bertilimumab for the treatment of bullous pemphigoid (BP).

“We are incredibly gratified that bertilimumab has received Orphan Drug Designation for the treatment of bullous pemphigoid from the FDA and believe this designation, coupled with the recent positive opinion from the [European Medicines Agency] EMA’s Committee for Orphan Medicinal Products represent a significant regulatory milestone or bertilimumab,” commented Immune’s Chief Medical and Operating Officer, Tony Fiorino, MD, PhD. “We are focused on putting all of the manufacturing and regulatory pieces in place to launch a pivotal phase 2/3 study of bertilimumab in bullous pemphigoid next year.”

The FDA Orphan Drug Designation program provides a special status to drugs and biologics intended to treat, diagnose or prevent diseases and disorders that affect fewer than 200,000 people in the U.S. This designation provides for a seven-year marketing exclusivity period, as well as certain incentives, including federal grants, tax credits and a waiver of PDUFA filing fees.

Read the full press release.

On Thursday, June 7th, the FDA approved Rituxan for the treatment of adults with moderate to severe pemphigus vulgaris (PV).

Rituxan is the first biologic therapy approved by the FDA for PV and the first major advancement in the treatment of PV in more than 60 years. The FDA previously granted Priority Review, Breakthrough Therapy Designation and Orphan Drug Designation to Rituxan for the treatment of PV. With this decision, Rituxan is now approved to treat four autoimmune diseases.

“It is our hope that this announcement will open the door to approval for other indications in our diseases and usher in a renewed focus on available treatments,” said Marc Yale, Executive Director of the International Pemphigus & Pemphigoid Foundation.

The FDA approval is based on data from the Ritux 3 trial, a Roche-supported, randomized, controlled trial conducted in France that used Roche-manufactured, European Union (EU)-approved rituximab product as the clinical trial material. The study compared the Ritux 3 regimen (EU-approved rituximab product plus short-term corticosteroids [CS]) to CS alone as a first-line treatment in patients with newly diagnosed, moderate to severe pemphigus. The primary endpoint of the study was complete remission at month 24 without the use of steroids for two or more months. (Complete remission defined as complete epithelialization and absence of new and/or established lesions.)

Results of the study showed that 90 percent of PV patients treated with the Ritux 3 regimen met the endpoint, compared to 28 percent of PV patients treated with CS alone. These results supported the efficacy of Rituxan in treating patients with moderate to severe PV, while tapering off of CS therapy. These results were published in The Lancet in March 2017.

An international panel of experts called the International Bullous Disease Consensus Group recently provided new recommendations on the diagnosis and management of pemphigus in the Journal of the American Academy of Dermatology. Based on existing European treatment guidelines, a Delphi survey process was used to help achieve international expert consensus. The consensus includes the recommendation to use an anti-CD20 monoclonal antibody (Rituxan) and corticosteroids as first line therapy options for moderate to severe pemphigus.

The Role of the IPPF

The IPPF aims to serve as a primary source of information for you regarding this approved treatment and is available to help answer your questions in the upcoming months. If you are considering Rituxan as a potential therapy, please consult your healthcare provider. Inform them of your medical history, and ask about the potential side effects.

The IPPF’s Peer Health Coaches (PHC) are pemphigus and pemphigoid patients who help more than 1,200 patients and caregivers each year. These specially trained PHCs reduce patient anxiety and uncertainty while providing unbiased disease and treatment knowledge. You can find our PHCs engaging the community through social media, emails, phone calls, and in-person support. The goal of our PHC program is to ensure we help every person who needs assistance in the shortest amount of time possible.

Genentech Access Solutions

Genentech is the drug company that produces Rituxan (rituximab). Genentech Access Solutions is a resource for people considering Rituxan as a treatment option. It may be worth contacting Access Solutions directly regardless of whether or not you have health insurance.

Access Solutions may be able to help by:

  • Checking your insurance coverage and costs
  • Helping you find ways to pay for your medicine
  • Working to get your medicine to you

Visit Access Solutions to learn more.

This article was originally was posted at

The National Organization for Rare Disorders
The Importance of Rare Disease Education
Sophia A. Walker

February 25, 2015

Recently a wise professor told my class that we medical professionals are some of the most powerful people in the world. Indeed, we have the ability to meet people at their most vulnerable, sometimes on the very worst day of their lives, and help them. “This profession,” he told us, “is such a privilege that we must never miss the opportunity to have at least done some good for every patient.” Over the past several weeks, as I have planned rare disease awareness events and begun preparing to enter the clinical years of my medical education, I find myself considering these words more frequently. However, at the end of the day, I wonder how powerful we are, really…

My interest in rare diseases originated during my senior year of high school, when I first started volunteering at the National Organization for Rare Disorders, Inc. (NORD). I was overwhelmed to discover the many obstacles experienced by patients who have rare diseases. On a technical level, any disease that affects fewer than 200,000 Americans is considered rare. Of the more than 7000 rare diseases, only approximately 350 have treatments that are approved by the US Food and Drug Administration (FDA). I found that individuals with these diseases, almost two thirds of whom are children, show great courage and perseverance in the face of significant discouragement. Although I had always wanted to be a doctor, it was not until I witnessed such unrelenting determination to overcome barriers in healthcare that I discovered my own enthusiasm for medicine.

All physicians strive to provide attentive medical care with the utmost compassion and empathy; however, as medical professionals, we must also be our patients’ most vocal advocates. Although I was not yet a physician, I still wanted to contribute to this effort. I wanted to provide a forum for the nearly 30 million Americans with rare diseases whose voices often go unheard in the medical community, and I wanted to share this passion with my peers. Every year, my fellow students and I host a Rare Diseases Awareness Event. Patients, students, clinicians, and researchers come together to share their experiences and insights regarding rare diseases. We strive to shed light on the lives of these individuals by allowing them to share their own stories, sometimes for the very first time.

Although many students may assume that we do not need to know as much about rare diseases because we are unlikely to encounter them in our practice, this is simply not the case. In fact, every one of us preparing for medical careers will see patients with rare diseases, and the extent to which we prepare ourselves for this reality will determine the impact we can have on these patients’ lives. Patients who have a rare disease face difficulty in every step of medical care, including diagnosis, treatment, and preserving quality of life. Sometimes, patients go years without receiving the correct diagnosis for their condition. Once they finally have an answer, often no treatment is available for their condition. As future physicians, we must aim to improve these prospects; the first step in doing so involves developing a keen understanding of this patient population.

The opportunities for medical students to learn about rare diseases are vast. Gaining a basic understanding of how the experience of having a rare disease is different from having a more common disease is equally essential. The National Institutes of Health (NIH) has great information related to rare diseases on its website, and the NORD website provides overviews and links to more than 200 patient organizations that provide excellent information about specific rare diseases. Students can also apply for a free NORD student membership by writing to Once you register, you receive a monthly eNews and quarterly newsletter specifically designed for students planning healthcare careers. If you’re attending the American Medical Student Association annual convention in Washington, DC, on February 27 and 28, come to the NORD booth in the exhibit hall where patients with rare diseases will be sharing their stories.

With each speaker I listen to at a rare diseases event, with each new person I meet, I am filled once again with immense pride that our efforts, if even in a small way, have done some good. Unlike many people who are involved in advocacy efforts in this area, when I began this work, I did not have a personal connection to rare diseases. However, after years of getting to know people who have experienced these struggles, I can say that I now have several. In fact, it is the memory of the individuals I have met and the satisfaction in having contributed to raising awareness that has guided my interests, served as an influence in many decisions, and ultimately has been the driving motivation in achieving my aspirations. With every step I take moving forward in my career, rare diseases comes along with me and will continue to do so.

My passion for rare diseases advocacy has become perhaps the foremost aspect that defines me and has made me who I am. It has given me direction, has made me a leader, and continually prepares me to become one of those physicians who will do some good. A couple of years ago, one of my undergraduate professors asked me, “Are you that rare diseases girl?” He went on to say that a student who had been inspired to research rare diseases after attending my event had approached him with an interest in working in his lab. This is the reason why I raise awareness for rare diseases. If just one more person every year becomes inspired, that may eventually make all the difference in the world. It turns out that, in the end, we are all powerful together. After all, according to the NORD motto: “Alone we are rare. Together we are strong.”®