Alcohol supplementation in rhizomelic chondrodysplasia punctata in the Netherlands
| ISRCTN | ISRCTN44820021 |
|---|---|
| DOI | https://doi.org/10.1186/ISRCTN44820021 |
| Secondary identifying numbers | NL736 (NTR746) |
- Submission date
- 22/11/2006
- Registration date
- 22/11/2006
- Last edited
- 23/09/2021
- Recruitment status
- No longer recruiting
- Overall study status
- Completed
- Condition category
- Musculoskeletal Diseases
Prospectively registered
Protocol
Statistical analysis plan
Results
Individual participant data
Record updated in last year
Plain English summary of protocol
Not provided at time of registration
Contact information
Dr A M Bams-Mengerink
Scientific
Scientific
Academic Medical Center
Department of Pediatry
H8-141
Meibergdreef 9
Amsterdam
1105 AZ
Netherlands
| Phone | +31 (0)20 5667508 |
|---|---|
| a.m.mengerink@amc.uva.nl |
Study information
| Study design | Cohort study |
|---|---|
| Primary study design | Observational |
| Secondary study design | Cohort study |
| Study setting(s) | Not specified |
| Study type | Screening |
| Scientific title | Alcohol supplementation in rhizomelic chondrodysplasia punctata in the Netherlands |
| Study objectives | Plasmalogens can be synthesised out of batyl alcohol (naturally occuring alkylglycerol) in patients with the peroxisomal disorder Rhizomelic Chondro-Dypslasia Punctata (RCDP), bypassing the peroxisomal steps in the pathway. |
| Ethics approval(s) | Ethics approval received from the local medical ethics committee |
| Health condition(s) or problem(s) studied | Rhizomelic chondrodysplasia punctata |
| Intervention | Batyl alcohol supplementation 5 to 50 mg/kg/day. The following steps will be taken: 1. Blood sampling 2. X-ray skeleton 3. Dexa scan 4. Magnetic Resonance Imaging (MRI) 5. ElectroEncephaloGram (EEG) 6. Visual Evoked Potential (VEP) 7. Brainstem Auditory Evoked Potentials (BAEP) 8. ElectroMyoGraphy (EMG) 9. SomatoSensory Evoked Potentials (SSEP) 10. Questionnaire on well-being |
| Intervention type | Drug |
| Pharmaceutical study type(s) | |
| Phase | Not Specified |
| Drug / device / biological / vaccine name(s) | Batyl alcohol |
| Primary outcome measure | Plasmalogen content in erythrocytes increases significantly in both severe and milder patients with RCDP. |
| Secondary outcome measures | 1. Increase in plasmalogens in sputum 2. Improving quality of life scores (TNO-AZL Preschool children Quality of Life [TAPQOL]) 3. Stabilisation or improvement in nerve conduction Stabilisation in MRI/MRS will be our tertiary endpoint. |
| Overall study start date | 01/01/2006 |
| Completion date | 01/01/2008 |
Eligibility
| Participant type(s) | Patient |
|---|---|
| Age group | Not Specified |
| Sex | Not Specified |
| Target number of participants | 10 |
| Key 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 |
| Key exclusion criteria | 1. Parents/legal representatives are unwilling to fulfil the evaluation program 2. Intolerability of the drug 3. Concomitant severe disease resulting in very short life expectancy 4. Decision by the patient and/or his/her parents or legal representatives to withdraw from the treatment |
| Date of first enrolment | 01/01/2006 |
| Date of final enrolment | 01/01/2008 |
Locations
Countries of recruitment
- Netherlands
Study participating centre
Academic Medical Center
Amsterdam
1105 AZ
Netherlands
1105 AZ
Netherlands
Sponsor information
Academic Medical Center (AMC) (The Netherlands)
Hospital/treatment centre
Hospital/treatment centre
Department of Pediatrics
P.O. Box 22660
Amsterdam
1100 DD
Netherlands
"ROR" |
https://ror.org/03t4gr691 |
|---|
Funders
Funder type
Not defined
Not provided at time of registration
No information available
Results and Publications
| Intention to publish date | |
|---|---|
| Individual participant data (IPD) Intention to share | No |
| IPD sharing plan summary | Not provided at time of registration |
| Publication and dissemination plan | Not provided at time of registration |
| IPD sharing plan |
Editorial Notes
23/09/2021: Proactive update review. No publications found. Search options exhausted.
