Participation in the Natural History Study is critical for the success of this program! The study is a prospective, longitudinal trial in patients with RCDP. What that means is that study participants will undergo a series of standardized assessments at baseline and every six month.
To be eligible to participate in the study individuals must be between the ages of 6 months and 21 years and have a biochemically confirmed clinical diagnosis of RCDP (this means blood work that shows low plasmalogen levels). Individuals who are too ill to travel to the clinical site (as determined by the physicians at the clinical site), do not have a guardian or caregiver who can provide accurate medical information about the patient, or are involved in any other clinical trials will not be eligible to participate.
If you are interested in participating in this study, or have any questions about the study please contact the Study Coordinator Candace Muss at 302-651-5476 or Candace.Muss@nemours.org
If the clinical team determines your child is eligible they will be scheduled for their baseline assessments and your family will be asked to travel to Wilmington, DE. Once you arrive at the Alfred I. DuPont Hospital for Children they will undergo assessments over a period of about 2 days. These assessment include a complete medical history, physical exam, physiotherapy assessment, respiratory function testing, DEXA body composition, nerve conduction studies, 4-hour EEG, blood work and a series of surveys which will be completed by the caregiver.