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After the FDA denied Bitopertin approval as a treatment for EPP, the APF developed a strategy to help mitigate the situation. Knowing an assault tactic would not be appreciated by the FDA, the APF gathered a committee of people on Bitopertin and began to develop a plan to impact the FDA positively. We engaged (photos r to l) Steve Ferry, , George Ragsdale, Pierre Mouledoux and Jim Bowie, to assist in the development of the strategy and the APF response to the FDA. Reaching out to the FDA rare disease representatives and even a former commissioner greatly assisted us in reaching the FDA in a positive way. The FDA responded favorably to our efforts, including suggestions of expanded access. Along with our expanded access suggestions and positive interactions with the FDA Rare Disease representatives, the APF also submitted the letter from the APF FDA committee and APF Executive Director as follows:
On behalf of the American Porphyria Foundation (APF), we respectfully submit this letter to share the perspectives of patients and families affected by erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP), rare and profoundly life-altering conditions.
The APF serves as the leading patient advocacy organization for individuals living with all forms of porphyria in the United States. Our mission is to improve the lives of patients through education, advocacy, and support, while advancing research and access to care.
We recognize and deeply respect the U.S. Food and Drug Administration’s commitment to rigorous scientific evaluation and its responsibility to ensure that all approved therapies meet the highest standards of safety and efficacy. We are grateful for the FDA’s continued engagement in rare disease innovation and for the structured pathways that support the development of therapies for underserved patient populations.
In this context, we wish to share the life changing perspectives of members of our protoporphyria community regarding the investigational therapy, Bitopertin. EPP and XLP are characterized by severe, painful phototoxic reactions to sunlight and certain indoor lighting, often occurring within minutes of exposure. These conditions impose significant limitations on daily functioning, employment, education, and overall daily function. Patients frequently describe a lifetime of social isolation, restricted mobility, and substantial psychological burden.
Among APF constituents who have participated in clinical studies involving Bitopertin, we have received consistent and compelling reports of meaningful benefit. Patients have described substantial increase in tolerance to light exposure, resulting in an improved ability to participate in everyday activities, and a greater sense of independence and quality of life. While we understand that individual experiences do not substitute for clinical endpoints, these patient-reported outcomes represent meaningful dimensions of therapeutic impact for both EPP and XLP populations.
Patient Perspectives, EPP Patient (Teenager, Clinical Trial Participant) "Living with EPP as a teenager has made daily life, particularly school, extremely challenging. I often had to miss classes, avoid outdoor transitions between buildings, and sit out of school events due to the risk of severe pain from even brief light exposure. During the clinical study, I experienced a noticeable increase in the amount of time I could tolerate light without triggering the same level of pain. This allowed me to attend school more consistently, move between classes with greater confidence, and participate in limited outdoor and social activities that I previously had to avoid. While I still needed to be cautious, the improvement in functional day-to-day activities, especially school attendance and social engagement, was meaningful and had a significant impact on my quality of life."
XLP Patient (Adult, Clinical Trial Participant) "Living with XLP for many years has required constant vigilance and has significantly shaped both my professional and personal life. I have had to limit outdoor exposure, adjust work responsibilities, and often decline social or family activities due to the risk of painful reactions. During my participation in the clinical study, I experienced periods where I was able to tolerate light exposure for longer durations with less severe symptoms. While I continue to manage my condition carefully, this experience allowed me to participate more fully in daily responsibilities and reconnect with aspects of life that had long been restricted. The change, though not absolute, was meaningful."
These testimonials are shared to reflect patient experiences and perspectives and are not intended to represent clinical conclusions. The unmet medical need across EPP and XLP remains substantial. Treatment options are limited, and not all patients experience adequate benefit from currently available therapies. For individuals with XLP in particular, therapeutic options are especially limited, underscoring the importance of continued development and evaluation of potential treatments.
We respectfully encourage the FDA to continue working collaboratively with the sponsor, clinical investigators, and the patient community to fully evaluate the potential of Bitopertin across both EPP and XLP. We are hopeful that ongoing or future analyses may further clarify its benefit-risk profile and support consideration for approval at a future date, including potential review in 2027 should additional data become available. The APF stands ready to support the FDA by providing patient insights, facilitating patient engagement, and contributing to the understanding of meaningful clinical outcomes in protoporphyria. We believe that incorporating the patient's voice is essential in rare disease decision-making and can complement traditional clinical measures.. Thank you for your continued dedication to patients with rare diseases and for considering the perspectives of the protoporphyria community. Respectfully submitted by Tom Pletkovich, APF Executive Director
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