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Rare Disease Day (RDD)

“Rare disease brings together government agencies, including both the funding and the regulatory agencies, pharmaceutical industries, and patient advocates. And, their priorities can sometimes differ... These different groups are involved with every aspect [of therapy development] and every aspect is working, but every aspect could be working even better.”

Monday, February 28, marked international Rare Disease Day, which recognizes over 7000 rare conditions that affect over 300 million people worldwide. The day brought together researchers, patients, advocates, and policy makers in conversations on how to improve awareness and management of rare diseases.

Severe combined immunodeficiency (SCID), glioblastoma, and chronic lymphocytic leukemia (CLL) are 3 rare diseases that companies such as Mustang Bio are developing therapies for. These programs, lentiviral gene therapies in SCID and glioblastoma and chimeric antigen receptor (CAR) T-cell therapies in CLL, are in phase 1 studies with planned phase 2 parts.

spoke with Bruce Dezube, MD, senior vice president and head, clinical development, Mustang Bio, to learn more about the importance of Rare Disease Day as well as the role of collaboration and advocacy to improve rare disease awareness and therapy development.

The senior vice president and head of clinical development at Mustang Bio discussed the importance of Rare Disease Day. 

Improving Rare Disease Awareness: Bruce Dezube, MD 

“Anytime I talk to any patient, or friend or family member, who's received a difficult diagnosis, I think one of the most important things you can do for them is let them know that, in addition to everything that doctors are doing, there's a lot of scientists and clinical researchers working to come up with new solutions for them. And sometimes that hope really contributes to the patient's outcomes.”

Monday, February 28, marked international Rare Disease Day, recognizing over 7000 rare conditions that affect over 300 million people worldwide. The day helps to bring researchers, patients, advocates, and policy makers together in conversations on how to improve awareness and management of rare diseases.

One such rare disease is myasthenia gravis, which Cartesian Therapeutics is currently targeting with their lead developmental candidate, the autologous RNA T-cell therapy Descartes-08. The cell therapy, which is directed against B-cell Maturation Antigen is being evaluated in a phase 1/2 study (NCT04146051). Interim data from the study previously showed improvements on the Myasthenia Gravis Foundation of America Clinical Classification and Myasthenia Gravis Composite scales.

spoke with Michael Singer, MD, PhD, cofounder chief scientific officer, Cartesian, and to learn more about the importance of Rare Disease Day and why collaboration and advocacy is so important to help improve awareness in this space.

Cartesian Therapeutics announces clinical responses in first cohort of phase 1b/2a trial in myasthenia gravis. News release. Cartesian Therapeutics. August 24, 2021. https://www.cartesiantherapeutics.com/cartesian-therapeutics-announces-clinical-responses-in-first-cohort-of-phase-1b-2a-trial-in-myasthenia-gravis/

The cofounder and chief scientific officer of Cartesian Therapeutics discussed the importance of Rare Disease Day. 

A Positive Outlook for Rare Disease Research: Michael Singer, MD, PhD 

“The first step to work on in rare disorders is the diagnosis. In order to increase diagnoses, we need to increase awareness. In order to increase awareness, I think the best way is better education. So, we need to persuade authorities that this education is very important, and they should represent a certain percentage of their continuing education program to cover those rare disorders.”

Monday, February 28, is international Rare Disease Day. Rare diseases affect over 300 million people worldwide, with over 7000 diseases designated as rare.

Companies are developing gene and cell therapies for rare diseases such as Pompe disease and aromatic L-amino acid decarboxylase (AADC) deficiency, including PTC Therapeutics’ gene therapy PTC-AADC. Paul Wuh-Liang Hwu, MD, PhD, professor of pediatrics, National Taiwan University Hospital, serves as investigator on the PTC-AADC trials.

 spoke with Hwu about Rare Disease Day, rare disease awareness, and physician education. He also discussed the importance of patient advocacy and the improvements that still need to be made in these areas to advance both our understanding and management of rare diseases. 

The professor from National Taiwan University Hospital discussed the importance of Rare Disease Day for raising awareness. 

Improving Rare Disease Awareness: Paul Wuh-Liang Hwu, MD, PhD 

Monday, February 28, 2022, is Rare Disease Day, recognizing the more than 300 million people worldwide affected by one of more than 7000 diseases designated as rare. Gene and cell therapies are being developed for the treatment of a wide range of rare diseases such as Pompe disease, muscular dystrophies, Danon disease, and more. As part of an expert-led roundtable, 

 spoke to leaders in both the clinical and biopharmaceutical fields to get their feedback on how cross-collaboration between industry, academia, and advocacy can help advance the management and treatment of rare diseases.

 How can we improve collaboration among the different stakeholders to ultimately improve education, awareness, and treatment of rare diseases?

Barry Byrne, MD, PhD; director, Powell Center for Gene Therapy, University of Florida:

 While there are always resource constraints when dealing with an orphan indication, the threshold for interest by pharma companies in what's an economically viable treatment for drug development activity is significantly higher than most populations than those that are faced with rare disease problems. We rely on those that are not affected by rare diseases to help support those communities and on global organizations like the Muscular Dystrophy Association to be an aggregating factor for the whole neuromuscular community. That brings us shared resources and is one way we can accomplish what's needed in this area.

Paul Wuh-Liang Hwu, MD, PhD; professor, pediatrics, National Taiwan University Hospital: 

We have been working with several groups now for quite a long time to improve education to better try and capture companies’ development interests. We also keep in mind the interests of the patients. We're trying to improve diagnosis, so we try to get help and resources from patient organizations and companies interested in the disease to be able to offer more convenient, maybe free-of-charge, diagnostic services to doctors. It's difficult to diagnose rare diseases and suspicions are usually not accurate. So, we try to bring resources to decrease the difficulty, to decrease the burden to the physicians and finally, to improve diagnosis rates, and hopefully get treatments developed.

"There are so many diseases that have no treatment options, but if we bring the brilliancy in the science and technology and the products and molecules we have in our array of research together, as so many biotechs and pharmas have done, we could actually tackle many more diseases." - Kinnari Patel, PharmD, president and chief operating officer, Rocket Pharma

Bruce Dezube, MD; senior vice president and head of clinical development, Mustang Bio:

 Rare disease brings together government agencies, including both the funding and the regulatory agencies; the pharmaceutical industries; and patient advocates. Their priorities can sometimes differ. For patient advocates, I would say their priority is getting treatments developed. We say that patients are often on the different side of the stethoscope than the providers. So where can things improve? I think patient advocates can often leverage their voice into streamlining clinical trial design with the FDA by perhaps helping to lower the chemistry manufacturing control (CMC) hurdles with the FDA to get more therapies approved. But also, enrollment to clinical trials is a tough battle and patient advocates can also help to really get the word out there. All these groups are involved with every aspect and every aspect is working, but every aspect could be working even better.

Kinnari Patel, PharmD; president and chief operating officer, Rocket Pharma:

 I think we're doing a fairly good job within our diseases and our ecosystem. What I would love to ambitiously do is to bring all the biotechs and pharma together. There are so many diseases that have no treatment options, but if we bring the brilliancy in the science and technology and the products and molecules we have in our array of research together, as so many biotechs and pharmas have done, we could actually tackle many more diseases. If we partner with top authorities and their regulatory advocacy teams, we can create a platform to make drug development more efficient, so more patients can have access to better therapies or any therapies.

So, my goal is to partner up and make the rare disease efforts bigger and bigger. I think the most rewarding part for Rocket was when we lit up the Empire State building for the first time about 4 years ago. We got messages from all around the world, from patients that said, my child or I myself have a disease that no one's treating, but for that one night, I didn't feel alone, and I felt there's hope for us and my family. Just a simple task of lighting up houses or monuments around the world could give that hope and make rare diseases something that we can really tackle together as a challenge.

Michael Singer, MD; cofounder and chief scientific officer, Cartesian Therapeutics:

 Overall, I have a very high opinion of the amount of collaboration happening, starting with our federal institutes, the NIH, and various programs. The funding agencies have shown a terrific devotion to rare disease research, and we do see lots of cooperation among biotech and pharmaceutical sponsors, rare disease societies, and patient advocacy groups, and patients and families themselves.

One thing, as a biotech researcher, that I have seen as a challenge in the past is when there are a small number of experts at academic universities who can be protective toward these patients and may not want to cooperate with industry and biotech, it's very difficult for industry to develop therapies for those patients. This becomes a barrier for biotech companies with potential therapies to offer those to the patients.

Michael Parini; chief executive officer and director, Freeline Therapeutics:

 I think drug discovery and development is a team sport. That includes biotech companies, academic collaborators, and the patient voice, which is especially important to advocate for participation in clinical trials, since that's how we advance science. I do think that there's a lot of good relationships there that have been built, but we still have some silos to break down. I think academics bring tremendous insights into the early work, and opening their doors and having a more constructive relationship with biotech companies is an important step. I really do see tremendous alignment between what we're all trying to accomplish.

Collaboration with regulators can be challenging and sensitive, but they certainly play an important role in making sure that the treatments and the clinical trials we conduct are appropriate and have the right benefit-risk profile for patients. As we push the boundaries of scientific exploration, we have to adjust the system a little bit and really re-examine meaningful endpoints and approvable packages, particularly for rare diseases. How should you structure a clinical trial where patients have lots of different variations in their genetic code, but they have the same manifestation of disease? Can we think about doing more clinical trials dependent on biomarkers and other ways of showing progression of disease, particularly in these severe diseases?

Lastly, patients, academic centers, and treating physicians have a lot to offer in that conversation with regulators. And I think that more of a bridge needs to be built. All those groups have to come together to make sure that we're all collectively working in the same direction to get to the ultimate goal to help people with serious, rare conditions.

Clinical and industry leaders share their perspectives on  the importance of collaboration in developing treatments for rare diseases. 

Advancing Treatments for Rare Diseases Requires a Team Approach

“The best way to understand the disease is to partner with patients and caregivers and patient communities to know what's important to them. What is the disease burden for them, and how did they get diagnosed to begin with? What are the diagnostic barriers that they have to face and overcome, what are the things that they're living with, and what would be important for them, to contemplate a need for therapy? These are things that we really invest on from the beginning.”

Rare diseases affect over 300 million people worldwide, with over 7000 diseases designated as rare. Monday, February 28, is international Rare Disease Day, and in recognition of the day, the National Institutes of Health hosted a Rare Disease Day conference to bring together researchers, patients, advocates, and policy makers.

Companies are developing gene and cell therapies for rare diseases such as Danon disease, which is the focus of Rocket Pharmaceuticals’ lead program, RP-A501. The gene therapy is currently being evaluated in a phase 1 trial. Rocket is also developing therapies for other rare diseases, including Fanconi anemia, leukocyte adhesion deficiency-1, and pyruvate kinase deficiency.

 spoke with Kinnari Patel, PharmD, president and chief operating officer, Rocket Pharma, to learn more about the importance of Rare Disease Day in the cell and gene therapy space. She discussed the importance of collaboration between companies, academia, and patient advocacy groups as well as how collaboration could be improved moving forward.

The president and chief operating officer of Rocket Pharmaceuticals discussed the importance of Rare Disease Day. 

Developing Therapies for Rare Diseases: Kinnari Patel, PharmD 

"[Rare Disease Day] is an opportunity to recognize the commitments from the research community, from the patient community, from all those stakeholders that want to try to improve the lives of patients with rare diseases.”

Monday, February 28, is international Rare Disease Day. Rare diseases affect over 300 million people worldwide with over 7,000 diseases counted as rare diseases. In recognition of the day, the National Institutes of Health hosts a Rare Disease Day conference to bring together researchers, patients, advocates and policy makers.

Gene and cell therapies are being explored in rare diseases such as Pompe disease, in which therapies are being investigated as a single-dose alternative to enzyme replacement therapy. Current studies investigating gene therapies in this space include the phase 1/2 RESOLUTE study (NCT04093349) of SPK-3006 as well multiple studies from the University of Florida’s Powell Center for Gene Therapy.

spoke with Barry Byrne, MD, PhD, director, Powell Center for Gene Therapy, University of Florida, and advisory committee member, FDA Cellular, Tissue, and Gene Therapies Advisory Committee, about Rare Disease Day and his related work in Pompe disease. Byrne discussed the importance of having such a day in improving disease awareness as well as the importance of patient advocacy and advocacy groups for rare diseases.

The director of the Powell Gene Therapy Center at the University of Florida discussed the importance of Rare Disease Day. 

Conferences

Improving Rare Disease Awareness: Bruce Dezube, MD

A Positive Outlook for Rare Disease Research: Michael Singer, MD, PhD

Improving Rare Disease Awareness: Paul Wuh-Liang Hwu, MD, PhD

Advancing Treatments for Rare Diseases Requires a Team Approach

Developing Therapies for Rare Diseases: Kinnari Patel, PharmD

Improving Rare Disease Awareness: Barry Byrne, MD, PhD