Rhizomelic Chondrodysplasia Punctata
Rhizomelic Chondrodysplasia Punctata (RCDP) is a rare genetic disorder affecting approximately 1 in 100,000 live births. Children with RCDP are born with a defective peroxisomal enzyme that blocks the production of plasmalogens, the same class of phospholipids that Dr. Goodenowe's metabolomics platform identified as deficient across multiple diseases.
Most children with classic RCDP do not survive past age 10. Disease severity correlates directly with circulating plasmalogen levels: children with the lowest levels have the most severe disease and the shortest lives. There is no approved compound for the disorder.
The compounds
An early proof of concept
In 2011, Dr. Goodenowe and his team at Phenomenome Discoveries in Saskatoon published cell-based research showing that PPI-1011, a synthetic plasmalogen precursor he had designed, could restore plasmalogen levels in RCDP and Pelizaeus-Merzbacher disease cell models.
Dr. Goodenowe is listed as a co-inventor on the PPI-1011 patent: US Patent 9,334,235B2. The patent lists five co-inventors: M. Amin Khan, Paul L. Wood, Dayan Goodenowe, Rishikesh Mankidy, and Pearson Ahiahonu.
In 2015, the New York Times profiled people with RCDP and their hope in Dr. Goodenowe's research. One parent was quoted: "For us, getting another month with your child or another year or another five years, that's kind of everything."
The receivership
Assets sold through court-supervised process
Within months of that New York Times article, Phenomenome Discoveries' largest investor called in its loan, leading to court-ordered receivership on February 26, 2016. The company's assets, including the PPI-1011 compound, the patent portfolio, and key research staff, were sold through the receivership in September 2016.
The assets were acquired by Med-Life Discoveries LP, a Saskatoon-based entity. Med-Life's CEO, Dr. Shawn Ritchie, was formerly the lead cancer researcher at Phenomenome under Dr. Goodenowe. Med-Life's EVP of Clinical Development, Dr. Tara Smith, was formerly a postdoctoral researcher under Dr. Goodenowe.
Dr. Goodenowe was no longer involved.
The trial
The PPI-1011 trial program
Med-Life Discoveries is conducting the only Health Canada-approved human trial of PPI-1011, the compound Dr. Goodenowe co-invented:
The exclusion
A question of eligibility
Families who give their children over-the-counter plasmalogen supplements are excluded from participation in the RhizoTRIAL program. The stated rationale, published by Med-Life Discoveries in an August 2022 program update, is data integrity: if a supplement successfully augments plasmalogen levels even marginally, it could produce skewed results that would make it impossible to determine whether any observed improvements were attributable to PPI-1011 or to background supplementation.
The supplements subject to this exclusion include scallop extracts, plasmalogen extracts, shark liver oil, DHA supplements, fish oil, and krill oil, as well as lipoic acid. Prodrome Sciences' plasmalogen precursor formulations, developed by Dr. Goodenowe, fall within this prohibited category.
The compound at the center of the trial, PPI-1011, was co-invented by Dr. Goodenowe at Phenomenome Discoveries in Saskatoon. It was acquired by Med-Life through the 2016 receivership. Dr. Goodenowe has no involvement in the trial program. The supplements his company produces are excluded from it; they are distinct plasmalogen precursor formulations Dr. Goodenowe developed at Prodrome Sciences after the receivership, not the PPI-1011 compound owned by Med-Life. Readers can review the trial's eligibility criteria and Med-Life's program communications and draw their own conclusions.
The program
Rare Childhood Disease Community Giving
After the receivership, Dr. Goodenowe developed his own plasmalogen precursor formulations at Prodrome Sciences, distinct from the PPI-1011 compound owned by Med-Life. He subsequently established the Rare Childhood Disease Community Giving program, a charitable initiative for people in the rare childhood peroxisomal disorder community. Through direct donations of product and services, the program offers participating families access to these dietary supplements, biochemical assessment, education, and personal consultations with Dr. Goodenowe at no cost.
Full program details are documented at the program page.
Side by side
Dr. Goodenowe
- Co-invented PPI-1011 at Phenomenome (US Patent 9,334,235B2)
- Published RCDP cell-based research in 2011
- No involvement in the current trial program
- Subsequently developed his own plasmalogen precursor formulations at Prodrome Sciences
- Operates Rare Childhood Disease Community Giving as a charitable program
Med-Life Discoveries LP
- Acquired PPI-1011 through receivership
- Excludes participants who use plasmalogen supplements from trial
- Natural History Trial since 2019, observational only
- Phase 1 completed in healthy adults, not RCDP children
- No RCDP child has received PPI-1011 through trial program
Regulatory disclaimer
The plasmalogen precursor supplements referenced on this page and provided through the Rare Childhood Disease Community Giving program are dietary supplements. These statements have not been evaluated by the U.S. Food and Drug Administration or Health Canada. The supplements are not intended to diagnose, treat, cure, or prevent any disease, including RCDP.