Plasmalogen Replacement Therapy | Peroxisomal Biogenesis Disorders

Peroxisomal Biogenesis Disorders are a group of related genetically based medical conditions resulting from deficient peroxisomal function. The clinical presentation and severity of these conditions is wide ranging depending on the underlying genetic cause. Decreased levels of plasmalogens are central in the majority of peroxisomal biogenesis disorders and in general, plasmalogen levels directly correlate with severity of symptoms and prognosis.

RCDP, or Rhizomelic Chondrodysplasia Punctata, is a subgroup of disorders under the larger Peroxisomal Biogenesis Disorder umbrella. While there are several distinct forms of RCDP, this group shares common feature of being unable to synthesize plasmalogens. Children with RCDP have severe developmental impairment and skeletal dysplasia, and many do not survive past the age of five. Overall, approximately 1 in 100,000 children born are estimated to have a form of RCDP, but due to its severity, there are less than 100 known cases of RCDP in North America.

By therapeutically augmenting plasmalogen levels in children with Peroxisomal Biogenesis Disorders, including RCDP, our hope is to improve the health of these patients, as well as improve basic physiological and neurological functions.

Our plasmalogen replacement therapy for Peroxisomal Biogenesis Disorders, including RCDP, is based on a critical chemical structures that these patients are lacking.

We are currently scaling up the manufacturing of the drug and completing the necessary preclinical studies for an FDA IND filing. We have developed a collaboration with Dr. Michael Bober, Medical Geneticist at Nemours/Alfred I. duPont Hospital for Children. Together we are in the final stages of planning a Natural History/Pre-intervention trial and a therapeutic Phase 2/3 trial in children with RCDP.