This quarterly publication will keep you informed about key news in the world of rare disease clinical research and update you on what the PRA Health Sciences Center for Rare Diseases has been doing. This issue includes a summary of work PRA has done to understand the impact of COVID19 on the rare disease patient community and to rare disease research.

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At PRA Health Sciences Center for Rare Diseases we are guided by patients who understand better than anyone else that rare diseases alters entire lives. We are transforming clinical research into meaningful healthcare options through patient partnerships, data analytics, and technology solutions.

We envision a world where every rare disease patient has meaningful treatment. We relentlessly work with patients, clinicians and industry to re-define what a clinical trial can be and to transform the clinical development ecosystem.

Special Message from the Center for Rare Diseases

The world of clinical research has changed into a very different place in the last few months. We recognize this has been a period of upheaval in so many ways but are heartened to see the research community work together to ensure continuity of ongoing trials and maintain momentum on upcoming clinical trials. We are especially hopeful that the current crisis will continue to drive innovation and encourage our industry to evolve, adapt, and improve the way we work.

We are especially grateful to the clinics and teams who were temporarily repurposed to serve their local communities during this public health emergency. We acknowledge the tremendous effort made by our own clinical operations teams to remain in continuous contact with research sites to reduce or mitigate delays.

Edition Highlights:

Impact of COVID-19 on the Rare Disease Community

On April 1, 2020, the Center for Rare Diseases hosted two ‘listening’ sessions with patients and representatives from patient advocacy groups to understand the impact of the COVID19 pandemic on the rare disease community. Patients and advocates representing more than 40 rare diseases attended these sessions!

These interactive webinars were moderated by Kendall James-Davis, Patient Advocacy Manager, with panelists Scott Schliebner, Senior Vice President and Amy Raymond, Director of Therapeutic Expertise. The conversation covered topics including recent FDA guidance on conducting clinical trials during the COVID19 crisis, options to keep current trials going through the use of technology and virtual site visits, and what COVID19 might mean to the long-term future of rare disease research.

In addition to sharing information, the sessions include survey questions for attendees to share how they were impacted by COVID19:

  • 60% respondents indicated their research/trials were paused due to COVID19
  • 50% expressed concerns within the patient communities about returning to sites
  • More than 75% had not assessed or been involved in assessing remote/virtual technologies as a strategy to keep the research moving forward during the pandemic
View webinar recording

Hear Scott Schliebner Speak at MarketsandMarkets' Digital Event on Orphan Drugs & Rare Diseases

A Patient-Centric Research Paradigm for Rare Disease Drug Development
July 9 | 9:35am EDT

Rare disease patients face numerous, unique challenges when participating in a clinical trial. Clinical trials have historically been designed without consideration of what is feasible for patients, resulting in a research paradigm that is inefficient and outdated. By adopting a patient-focused mindset, we can reduce the burden of clinical trial participation with clinical trials designed to fit into the lives of patients. Leveraging technology allows patients to participate in clinical trials from their home, with clinical trials being brought directly to a broad diverse group of patients, as opposed to requiring patients to frequently travel great distances to a clinic. This patient-centric paradigm results in clinical trials that enroll more quickly and include a more diverse and representative group of patients.

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Disease Spotlight: Relapsing Polychondritis

Relapsing polychondritis is a rare, progressive autoimmune disorder that causes episodes of cartilage and connective tissue inflammation, which can be very painful and result in permanent damage. This commonly occurs in one or both ears, the eyes, airway (larynx and trachea) lungs, and the joints. Swelling and pain episodes can last a few days to several weeks. Patients with relapsing polychondritis may develop hearing and balance problems, and vision loss. Severe cases can be fatal if the damage causes airway collapse or severely damages the heart and blood vessels.

Where Are We Today?

The underlying cause of relapsing polychondritis is not known. Treatments focus on mitigating pain and reducing inflammation to preserve the affected tissue. Commonly used medicines include anti-inflammatory drugs (NSAIDs), steroids, and immunosuppressive treatments. Roughly one third of relapsing polychondritis patients suffer from additional other autoimmune disorders.

There are two registries, The Autoimmune Registry and the Rheumatic Disease Biorepository, which are collecting observational data and blood, to help understand this and other autoimmune diseases.

In addition, there are several patient organizations for patients with rheumatic and autoimmune disorders, including a few specific for relapsing polychondritis: Canadian Society for Relapsing Polychondritis (Canada) and Relapsing Polychondritis Foundation, Inc (US), and the Association Francophone contre la Polychondrite Chronique Atrophiante (France).

Foundation Spotlight: K-T Support Group

K t logo

The K-T Support Group is an advocacy community that supports patients diagnosed with Klippel-Trenaunay Syndrome (KTS) and other vascular malformations. KTS is a disorder of the blood vessels (‘vascular anomaly’) in the soft tissues or bone, which typically results in a red birthmark (called a ‘port-wine stain’) and/or abnormal growth of an affected limb (length and/or girth). Depending on the severity of symptoms, patients’ quality of life may be impacted but orthopedic, surgical, and occupational therapies can be beneficial.

Due to the low prevalence of the disease (~1 in 100,000) and the complex clinical presentation, diagnosis of KTS for some patients can be a long, arduous process. There is no specific test to diagnose KTS and currently, there is no cure. The K-T Support Group helps newly diagnosed patients understand their condition and treatment options, as well as provides disease and symptom management guidelines for caregivers and clinicians.

Most vascular anomaly conditions are diagnosed during infancy, which can make it challenging for adult KTS patients to find appropriate care. To better understand this aspect and potential challenges for adult patients, the K-T Support Group has conducted studies using surveys to understand the transition to adult care.

The K-T Support Group, led by Melenee Finger, is also working directly with investigators through the Consortium of Investigators of Vascular Anomalies (CaNVAS) by representing patients and their interests within the consortium.

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Rare Disease Clinical Development: The Future is Here

On June 3, 2020 and in collaboration with the World Orphan Drug Congress, PRA hosted a webinar entitled “Rare Disease Clinical Development: The Future is Here to discuss the use of innovative approaches to rare disease clinical research. The session was moderated by Scott Schliebner, Senior Vice President, Center for Rare Diseases and included several panelists: Rick Rosenthal, Vice President, Commercial Effectiveness, Symphony Health; Luke Rosen, Founder and Board Chair, KIF1A.org, Vice President of Accelerated Development, Ovid Therapeutics; Juliane Mills, Director of Therapeutic Expertise, Center for Rare Diseases; Dr. Brad Pruitt, Executive Medical Director, PRA Health Sciences.

Rare disease patients face many challenges when looking for or participating in a clinical trial. Historically, clinical trials have been designed without the consideration of patients, resulting in a research paradigm that is archaic and outdated. The current COVID19 pandemic has driven a groundswell of interest and support for innovative solutions to bring clinical research into the 21st Century. The purpose of this webinar was to help attendees envision how these “futuristic” technologies are currently deployed in trials today.

Luke and Juliane offered insights on adopting a patient-focused mindset to de-risk clinical trials by designing them to be more feasible and realistic for patients, as well as strategies to quantify the burden of clinical trial participation. Rick commented on ways to use data to gather broad insights that help sponsors better identify patients, understand patient pathways, and monitor patients’ long-term safety. Brad provided several examples of utilizing mobile health to bring clinical trial visits into a patient’s home, as opposed to requiring patients to frequently travel great distances to a clinic.

View webinar recording

Newly Awarded Studies

  • Adult growth hormone deficiency – Phase III (Japan)

  • Hypoparathyroidism – Phase III

  • Immunoglobulin A nephropathy – Phase I/II

  • Alpha-thalassemia – Phase IIa

  • Sickle cell disease, gene therapy – Phase I/II

  • Dravet and Lennox-Gastaut syndromes – Retrospective chart review registry study

  • Aparathyroid hypoparathyroidism – Phase II

  • Achondroplasia – Phase II

Interested in learning more about any of the information mentioned here, have a personal interest in rare diseases, or would like more information?

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