patients with rhizomelic chondroysplasia punctata, severe and milder phenotypes.
Conditions
Interventions
1. batyl alcohol supplementation 5 - 50 mg/kg/day
2. blood sampling
3. X-ray skeleton
4. Dexa scan
5. MRI
6. EEG
7. VEP
8. BAEP
9. EMG
10. SSEP
11. questionnaire well being
Sponsors
None listed
Eligibility
Inclusion criteria
Inclusion criteria: 1. Parents or legal representatives must have given written informed consent 2. Patients must have a current diagnosis of RCDP established by biochemical analysis and / or mutation analysis. 3. Parents of patients must be willing to fulfil the evaluation program
Exclusion criteria
Exclusion criteria: Parents / legal representatives are unwilling to fulfil the evaluation program. Patients will be excluded from treatment if the following occurs: 1. Intolerability of the drug. 2. Concomitant severe disease resulting in very short life expectancy. 3. Decision by the patient and/or his/her parents or legal representatives to withdraw from the treatment.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| plasmalogen content in erythrocytes increases significantly in both severe and milder patients with RCDP. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary endpoints include 1. increase in plasmalogens in sputum 2. improving quality of life scores (TAPQOL) 3. stabilization or improvement in nerve conduction. Stabilization in MRI/MRS will be our tertiary endpoint. | — |
Contacts
Public ContactA.M. Bams-Mengerink
Academic Medical Center (AMC) Department of Pediatry, H8-141 P.O. Box 22660
Outcome results
None listed