Ever growing advances in science and technology mean that the general public is becoming increasingly aware of diseases and their impact on individuals in society. Consequently, public health is becoming more important, and governments, companies and the public alike are focusing not only on noncommunicable diseases, but also rare and orphan diseases.
Developments in computational biology have allowed researchers to grow large informatics databases on rare diseases, which include genetic phenotypes, mutations, drug targets, and patient data. Advances in computational modeling are also supporting methods of target identification and lead optimization for the development of rare disease drugs.
“More and more rare diseases are emerging with 7000 known to date, and they are becoming a major health concern worldwide,” says Elisabeth Schrader, Executive Director of Pediatric, Rare and Orphan Program Strategy and Delivery at Synteract.
“It is estimated that more than 350 million people are affected by rare diseases worldwide, which means that they are significantly impacting global economics, public health and society. It is now time to focus on those individuals, who may have been overlooked in the past.”
The importance of patient advocacy groups
When it comes to organizing any sort of clinical trial, the importance of collaboration between companies, clinicians, patients, and their families is essential. However, in regards to orphan and rare diseases, another collective needs to be considered: patient advocacy groups.
“Many rare diseases are devastating to patients, and not much is known about them. Advocacy groups are key in keeping the patient at the forefront of research,” Schrader explains. “They help the clinical trial community to keep the primary perspective on the patient, and to push and drive towards a solution.”
Moreover, companies working in rare diseases are supporting very small patient populations. This means that additional issues have to be considered in trial planning and execution, including organization and logistics for patient and caregiver support and education.
Developing supportive protocols
“In rare disease trials, every patient is critical, because the overall patient population for a given disease is so small,” says Schrader. “Because of this, every collected data point captured in a clinical trial carries significant importance.”
In order to get the most and best data points out of each individual, companies organizing rare disease trials face the challenge to design a thorough but sensible trial protocol. The key, says Schrader, is to develop a protocol that maximizes data points to allow the company to collect valuable information without becoming a burden to the patient and the investigative sites.
Furthermore, rare disease trials in a given population have often never been done before, so protocols need to be designed in a way that is comprehensible to possibly trial naïve patients, their families and investigators, in order to guide those involved through the clinical trial process.
Considering the small patient groups and the fact that patients are often scattered worldwide, logistics are also an important issue to address in the operationalization of orphan or rare disease trials.
Logistics include services, such as providing travel support to patients, families and caregivers, or home health services for study visits, which not only reduce the travel burden for patients, but also increases site staff and investigator capacity.
Many patients are children
Another key issue that companies need to address when organizing orphan or rare disease trials is the fact that many patients are children. “Rare and orphan disease trials don’t necessarily follow the standard course of a trial,” Schrader says.
“Many patients are still very young children, which means that the parents are an integral part of the clinical trial process. They are passionate to help their child, but often face conflicting priorities, such as caring for other children in their family, jobs, other commitments. And that is where biopharma companies and CROs need to show their support.”
The education of the parent is therefore an essential part of the trial organization process. Parents are taught about informed consent and child assent, for example. Schrader explains that there are many organizations which collaborate with CROs to make clinical trials more user friendly:
“Synteract partners with these organizations that provide material – booklets, computer games, videos – which explain clinical trials in a familiar language and an interactive way.”
To address the need to educate and obtain the child study participants’ assent, Synteract provides educational material that contains specific texts and pictures aligned to each age group, which explain what the clinical trial is and the expectations for their participation and why it is important.
CROs build the bridge between biopharmas and patients
CROs, such as Synteract, tie all the aspects of organizing an orphan or rare disease trial together. They support biopharma companies with specially trained experts in the field, provide insights into various diseases, as well as work with advocacy groups and assist with the communication between all the parties involved.
“We see ourselves as a bridge between the elements involved in running orphan disease trials,” Schrader says. “In the end, we try to make trials as easy as possible for patients, their families and caretakers, investigators and clinicians.”
Images via Hanna Kuprevich, sumroeng chinnapan, XiXinXing/Shutterstock.com
Author: Larissa Warneck, Science Journalist at Labiotech.eu
Let's Continue The Conversation
Feel free to send us comments about this article to firstname.lastname@example.org and/or comment on that article on social media.