This quarterly publication strives to keep you up to date on PRA’s Center for Rare Diseases' initiatives and activities. Interested in learning more about any of the rare diseases mentioned here, or have a suggestion for a rare disease you would like to see profiled? Email us – we take requests!

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Statement of Purpose

At PRA Health Sciences' Center for Rare Diseases, we are guided by patients who understand better than anyone else that rare diseases alter 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.

Edition Highlights:

Team Spotlight: Patient Advocacy

Watch Kendall Davis and Laura Iliescu talk about their passion for patient advocacy.

Who we are

PRA’s Patient Advocacy Strategy team are seasoned experts comprised of Kendall Davis (US) and Laura Iliescu (Canada), each with 10+ years of experience. We have extensive experience in the life sciences industry and the patient advocacy sector, as well as a strong understanding of commercial and regulatory imperatives that guide successful collaborations. The team combines extensive knowledge of the patient advocacy landscape and best practices with a deep passion for working with patient communities.

What we do

We create and implement tailored strategies to enable collaboration between patient advocacy organizations and sponsors throughout the clinical development lifecycle, such as:

  • Study feasibility research
  • Cross-functional patient and provider research
  • Qualitative and quantitative patient research including focus groups
  • Patient advisory board development and implementation for sponsors
  • Study-specific training programs for target patient advocacy organizations
  • Capacity-building for sponsors’ teams

How we do it

We regularly engage with patients and advocates to support true collaboration between sponsors and advocacy groups throughout the clinical lifecycle and beyond. We work with our Rare Disease Advisory Committee to ensure we are incorporating what is important to patients in the most effective way. We prioritize patient partnerships and follow our Guidelines for Interaction with Patient Advocacy Organizations.

The RACE for Children Act: How Industry Can Accelerate Readiness Through Collaboration With Patient Organizations

We recently collaborated with the Center for Pediatric Clinical Development and CureSearch for Children's Cancer to develop a whitepaper offering a high-level orientation around the key barriers to readiness and critical success factors for companies navigating the pediatric oncology space. The primary focus of this whitepaper is on how collaboration with patient organizations will be critical to overcoming the obstacles most companies will encounter.

Did You Know That September is Newborn Screening Awareness Month?

Newborn screening is a public health service in all US states. It identifies conditions that may not be noticeable at the time of birth, but could affect a child’s long-term health or survival if not detected early. Timely diagnosis relies on early screenings. In the event that a screening test comes back positive, intervention can sometimes prevent death or harmful effects and allow children to reach their full potential.

Each year, nearly 4 million babies in the US are routinely screened for up to 35 treatable conditions within their first days of life. Newborn screenings are performed regardless of health insurance status or a family’s ability to pay. While newborn screenings are required by law in all US states, there is variability in the conditions included in each state’s newborn screening panel. The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) has set forth national recommendations to guide and assist states in developing their programs with the support of the Secretary of the US Department of Health and Human Services to create the Recommended Uniform Screening Panel (RUSP). Most states screen for 29 out of the 35 conditions recommended by the ACHDNC. If a baby lives in a state that screens for a smaller number of disorders, parents can request an expanded supplemental screening from their child’s healthcare provider. To learn more about newborn screening and how you can support, click here.

Through newborn screening, 1 in 300 babies are found to have a potentially devastating condition. We, the patient community, have the power to change the policies that can save lives. The power of the patient voice is unstoppable.

Mark Dant, EveryLife Foundation

Disease Spotlight: Charcot-Marie-Tooth Disease

An interview with PRA’s Dr. Sindhu Ramchandren

Dr Sindhu Ramchandren
Dr. Sindhu Ramchandren, PRA Medical Director and Scientific Advisory Board member, Charcot-Marie-Tooth Research Foundation

September is Charcot-Marie-Tooth (CMT) disease awareness month! CMT is a genetic neurodegenerative disease of the peripheral nerves that control the muscles in the arms and legs. It typically begins in childhood with symptoms such as difficulty with balance or walking and progresses during adolescence and adulthood into weakness in distal hand and foot muscles. There are hundreds of mutations that cause CMT that vary in how they are inherited, age of onset, and exact clinical morphology. While typically not fatal, CMT can significantly affect a person’s quality of life. Currently, there is no cure for CMT.

It is estimated that there are ~126,000 people in the US and 2.6 million people across the world with CMT. In honor of these patients and our colleagues who support treatments and cures for this disease, we share an interview with Dr. Sindhu Ramchandren, PRA Medical Director and Scientific Advisory Board member for the Charcot-Marie-Tooth Research Foundation, on her passion for CMT patients and future research:

What does a ‘typical’ CMT patient experience in their day-to-day?

Almost all CMT patients have “foot drop” (an inability to clear their toes while walking), which is caused by nerve atrophy, so wearing a type of leg brace is common. Hand grip weakness is also common. Externally, CMT patients can appear fully functional, but they may internally be quite affected by fatigue and pain. This can make it very difficult for people with CMT to work a typical work schedule or do daily activities.

What is the biggest challenge in CMT treatment today?

There are no curative treatments available today for CMT; treatment options are geared towards physical symptoms, such as prescribing leg braces, physical and occupational therapy, and medicines to help with pain. However, there are many trials being launched in CMT, so the future is promising.

Although CMT is the most common genetic neuromuscular disorder, it is challenging to develop therapies because CMT is heterogeneous, there are many known mutations in several proteins encoding nerve function and all fall under the umbrella of “CMT.” Any treatment geared towards one CMT mutation type really narrows the pool of eligible patients. Even within CMT1A, the most comment genotype, there are several phenotypes, possibly due to epigenetic modifiers. This is essential to understand when developing the inclusion and exclusion criteria for protocols.

What message do you have for patients with CMT and their family members?

As I mentioned in a recent podcast with the Charcot-Marie-Tooth Research Foundation, my message to patients with CMT and their family is to stay involved, learn about advocacy groups and how they can amplify your voice, take part in trials, and to see CMT experts who are also doing research. The first visit for a CMT patient with an expert is profound. Finally, they meet someone who knows what CMT is and what they are going through. Subsequent visits can feel like a letdown because there are no treatments. However, patients need to know that now, the roles are reversed: the doctor learns from the patient, understand more about their symptoms, and what new trials should focus on.

Companies expect technical and operational expertise from CROs, but not necessarily the therapeutic expertise. PRA has several therapeutic experts who have come from academia; they understand patient needs and still stay in touch with their former colleagues.

Dr. Sindhu Ramchandren, PRA Medical Director and Scientific Advisory Board member, Charcot-Marie-Tooth Research Foundation.

Of her dual roles, Dr. Ramchandren explains her ability to bridge pharmaceutical companies with the key opinion leaders (KOL) and interests of the patient community: “Companies expect technical and operational expertise from CROs, but not necessarily the therapeutic expertise. PRA has several therapeutic experts who have come from academia; they understand patient needs and still stay in touch with their former colleagues. Sometimes it helps to have that personal connection with a KOL who will listen to a trusted voice to help them sort through the dozens of daily email requests from sponsors for attention and support.”

To learn more, listen to Dr. Ramchandren in a recent podcast with CMTRF’s CEO Susan Ruediger here.

The Center for Rare Diseases thanks all the brave patients and excellent clinicians, such as Dr. Ramchandren, for their tireless and selfless efforts to help drive research towards curative therapy.

For more information on CMT:

Thought Leadership and Meeting Highlights

Look for us in the Press!

Newly Awarded Studies

  • Recessive Dystrophic Epidermolysis Bullosa (RDEB) – Phase II
  • Myasthenia Gravis – Phase II, III

Studies in the Pipeline

  • Inherited Renal Tubular Acidosis – Phase III
  • Amyotrophic Lateral Sclerosis (ALS) – Phase II, III
  • Sickle Cell Disease – Phase I/II (gene edited cell therapy)
  • Charcot-Marie-Tooth Disease – Phase I
  • Congenital Disorders of Glycosylation – Phase II
  • Hypothalamic Obesity – Phase III
  • Hepatitis D – Phase III
  • Beta Thalassemia – Phase II
  • Spinal Muscular Atrophy – Phase II
  • Autosomal Recessive Polycystic Kidney Disease – Phase III, IIIb
  • Phenylketonuria (PKU) – Phase 0, Phase I/II
  • Primary Open-Angle Glaucoma – Phase II
  • Adrenomyeloneuropathy (AMN) – Phase 0

Our People Are Our Greatest Strength

We measure Healthcare Intelligence with our actions, experience, and intentions. Sure, we've got the metrics and capabilities to back it up, but we'd like you to meet two members from the Center for Rare Diseases to better understand why our key differentiator is our people.

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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