Clinical trials: Rhizomelic Chondrodysplasia Punctata
Rhizomelic Chondrodysplasia Punctata
RCDP Natural History Study
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.
- Trial name
- NCT04031287
- Where
- United States
- Volunteers
- 75 people
- Sponsor
- MED-LIFE DISCOVERIES LP
RCDP - Rhizomelic Chondrodysplasia Punctata, RCDP1
Rhizomelic Chondrodysplasia Punctata Registry
The goal of this registry is to collect medical information on individuals with rhizomelic chondrodysplasia punctata and closely related conditions.
- Conditions
- RCDP - Rhizomelic Chondrodysplasia Punctata, RCDP1, RCDP2, RCDP3
- Trial name
- NCT04569162
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Nemours Children's Clinic
Peroxisome Biogenesis Disorder, Zellweger Spectrum Disorder
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae.
- Conditions
- Peroxisome Biogenesis Disorder, Zellweger Spectrum Disorder, RCDP - Rhizomelic Chondrodysplasia Punctata, D-Bifunctional Protein Deficiency
- Trial name
- NCT01668186
- Where
- Canada
- Volunteers
- 244 people
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Rhizomelic Chondrodysplasia Punctata
A First-in-Human Phase 1 Study of Plasmalogen Precursor PPI-1011 in Healthy Adult Volunteers to Assess Safety, Tolerability, and Pharmacokinetics
PPI-1011 is being developed as a docosahexaenoic acid (DHA) containing plasmalogen precursor with good long-term stability, specifically for the treatment of rhizomelic chondrodysplasia punctata (RCDP), which is an ultra rare…
- Trial name
- NCT05969977
- Testing
- PPI-1011
- Where
- Canada
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- MED-LIFE DISCOVERIES LP