Innovation Place Tenant Feature

Med-Life Discoveries

In recognition of Rare Disease Day, a day devoted to raising awareness for patients, families and caregivers around the world who are affected by rare diseases, we are pleased to feature an Innovation Place tenant whose work focuses on improving the health of children with a rare genetic disorder.

There is a genetic disorder that, today, affects less than 100 young children in North America. It’s rarer than rare. In fact, most people have never heard of Rhizomelic Chondrodysplasia Punctata, or RCDP for short. But, what this pediatric disease lacks in notoriety, it makes up for in severity.

RCDP causes extreme dwarfism, seizures, cataracts, gastrointestinal issues and leads to poor life quality with equally poor lifespan expectancy. The babies affected by this disease, and their caretaking families, have an incredibly difficult, statistically bleak battle ahead of them, but luckily, there’s someone in their corner who hopes to make a difference.

Meet Med-Life Discoveries

Med-Life Discoveries (MLD), located at Innovation Place in Saskatoon, develops replacement compounds for the treatment of various disorders associated with plasmalogen deficiency. Plasmalogen deficiency refers to a lack of lipids that are normally found in cell membranes and in the myelin sheaths of nerve fibres. RCDP is caused by such a deficiency, and in essence, what MLD aims to do is replace the missing puzzle piece.

MLD employs nine staff led by Dr. Shawn Ritchie CEO and Chief Scientific Officer, and Dr. Tara Smith, VP of Therapeutics. The two worked together for nearly 10 years at a previous metabolomics company where the technology was invented. In 2016, MLD acquired the assets with the goal of advancing the therapeutics platform, which in addition to RCDP, relates to several neurological indications, including Alzheimer’s and Parkinson’s Disease.

Through their work focused on RCDP, MLD operates within a unique space in the drug-development realm. In the US, diseases with fewer than 200,000 occurrences are referred to as “orphan” diseases. RCDP’s signature plasmalogen lipid deficiency affects an estimated 1 in 100,000 babies (but, because of the severity, there are less than 100 known cases of RCDP in North America.), which classifies it as an ultra-orphan disease.

Drug Development

MLD’s synthetic compound isn’t a naturally occurring molecule, so it must go through a conventional drug development program to meet standards for safety and toxicity. But, because of RCDP’s orphan status with an incredibly small number of RCDP patients, MLD is able to participate in the FDA’s Orphan Drug Act, which provides some incentives for developing treatments for rare diseases.

Planning the clinical evaluation of this drug for RCDP has required consultations with the FDA, and the findings from which have clarified the path forward. MLD is planning a standard Phase 1 study to test the drug for safety in healthy human adults. However, the extremely small population of RCDP patients does not allow for separate Phase 2 and 3 studies. Instead, MLD will hold a single, six-month efficacy study with a small number of RCDP patients.

Natural History Study

One of the challenges of drug development for ultra-rare diseases is defining the control population. To remedy the challenge, MLD will hold a year-long “natural history study” to evaluate the course of the disease without treatment.

During the natural history study, patients with RCDP will be enrolled in a trial where they won’t receive any of the drug, but will still participate in the same assessments they’d have if they were taking the medication. Then, patients are put on the drug, assessments continue, and the results are compared against those recorded without any drug intervention. Shawn and Tara are excited that the first phase of the natural history study—the year of observation—is nearly ready to begin.

The natural history study has been a big focus for the entire MLD team. They’ve worked in conjunction with the Alfred I. duPont Hospital for Children in Wilmington, Delaware, a hospital that specializes in skeletal dysplasia (the abnormal growth of the skeleton, as seen in the extreme dwarfism of RCDP). They have a principal investigator there—the world’s leading expert on the disease—who will be the in-person contact for patients and their families during the study.

According to Shawn, MLD is just over a year away from having the drug ready for the first-in-human safety trial. Animal testing is planned for later this year, and the team is working to scale the drug to create the quantity—approximately five kilograms—required to complete all the safety studies that the FDA requires. Once this pre-clinical work is finalized and the drug has been deemed safe, the in-patient phase of their study can begin. As Shawn says, “this could be one of the only things that could really help these kids.” And that’s what keeps him and Tara going.

Community Involvement

Because the day-to-day life of RCDP patients isn’t well captured, Shawn and Tara have spent the better part of the year talking to the children’s parents to learn more about the typical manifestations of RCDP. They’ve done remote presentations to families of RCDP children, held video chats and info sessions to keep parents up to date on the development of the drug, and they have 10–15 families that engage with them on social media or have volunteered to be involved in pilot studies.

“We have the patient community engaged, we have the physician who sees these people engaged, and we have the regulatory agency that we need on board. They’re willing to have conversations about how to best proceed in a manner that’s most likely to be successful,” explains Tara.

The Journey

Working on the RCDP drug development program has been a consuming task and an educational journey, and the MLD team is appreciative of the experience and of what’s to come.

“We’ve taken something that was little more than an idea, and within less than 24 months, rebuilt the program from the ground up. In addition to the clinical/regulatory side Tara just mentioned, everything from the selecting the lead compound, solving some major chemistry and formulation issues, to initiating a five-kilogram batch for safety and pharmacological testing, has been designed and advanced by the MLD team out of our offices and labs here at Innovation Place,” says Shawn.

Furthermore, Shawn is proud of the fact “that we’re doing everything right and not cutting corners. We’ve hired top-notch people on the regulatory side and the chemistry side, which has contributed to the success of the program."

"Being located in Innovation Place, a state-of-art technology park, has been advantageous and strengthens our corporate image when engaging potential investors and collaborators.”

To learn more about Med-Life Discoveries, visit their website.

Dr. Shawn Ritchie, Med-Life Discoveries LP

- February 28, 2019