A Prospective Natural History Study of Patients With Rhizomelic Chondrodysplasia Punctata (RCDP)
Status: Recruiting
Location: See location...
Study Type: Observational
SUMMARY
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.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 6 months
Maximum Age: 21
View:
• 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.
Locations
United States
Delaware
Alfred I. DuPont Hospital for Children
RECRUITING
Wilmington
Contact Information
Primary
Tara Smith, PhD
t.smith@med-life.ca
306-244-8233
Time Frame
Start Date: 2019-06-18
Estimated Completion Date: 2027-12
Participants
Target number of participants: 75
Authors
Related Therapeutic Areas
Sponsors
Leads: MED-LIFE DISCOVERIES LP