MED-LIFE DISCOVERIES LP
A prospective, longitudinal observational trial in patients with RCDP. Study participants will be evaluated at baseline and approximately every 6 months by the study team. Quality of life, physiologic and functional measurements will be performed. In addition, audiologic recordings and other surveys will be completed at home by parents beginning at baseline and every 3-6 months thereafter.
Rhizomelic chondrodysplasia punctata (RCDP) is a group of rare diseases that have no known cure. It is a genetic disorder characterized by mutations in the Peroxisomal Biogenesis Factor 7 (PEX7) gene (RCDP1), Glyceronephosphate O-acyltransferase (GNPAT) gene (RCDP 2), Alkylglycerone phosphate synthase (AGPS) gene (RCDP3), Fatty Acyl-CoA Reductase 1 (FAR1) gene (RCDP4) or Peroxisomal Biogenesis Factor 7 (PEX7) gene (RCDP5) all coding for peroxisomal proteins which result in defective synthesis of plasmalogens. Hence, severely decreased levels of ethanolamine plasmalogens (PlsEtn), the most comm…
Inclusion Criteria: * Diagnosis of RCDP age range 6 months to 21 years * A clinical diagnosis of RCDP confirmed with biochemical parameters defined as C16:0 plasmalogen level of less than or equal to 0.75 of the lower limit of the normal reference range AND normal very long chain fatty acid levels. Exclusion Criteria: * Disease severity: The study physician will decide whether the child is too ill to travel due to chronic or acute severe cardiac or respiratory compromise. * Guardian or a care-giver who is not available or not capable of providing accurate information about the patient. * In…
Arctuva estimate
Verify or correct the compensation shown for this listing.