Contact information
Type
Scientific
Primary contact
Dr A M Bams-Mengerink
ORCID ID
Contact details
Academic Medical Center
Department of Pediatry
H8-141
Meibergdreef 9
Amsterdam
1105 AZ
Netherlands
+31 (0)20 5667508
a.m.mengerink@amc.uva.nl
Additional identifiers
EudraCT number
ClinicalTrials.gov number
Protocol/serial number
N/A
Study information
Scientific title
Acronym
Study hypothesis
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
Ethics approval received from the local medical ethics committee
Study design
Cohort study
Primary study design
Observational
Secondary study design
Cohort study
Trial setting
Not specified
Trial type
Screening
Patient information sheet
Condition
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
Phase
Not Specified
Drug names
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 trial start date
01/01/2006
Overall trial end date
01/01/2008
Reason abandoned (if study stopped)
Eligibility
Participant 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
Participant type
Patient
Age group
Not Specified
Gender
Not Specified
Target number of participants
10
Participant 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
Recruitment start date
01/01/2006
Recruitment end date
01/01/2008
Locations
Countries of recruitment
Netherlands
Trial participating centre
Academic Medical Center
Amsterdam
1105 AZ
Netherlands
Funders
Funder type
Not defined
Funder name
Not provided at time of registration
Alternative name(s)
Funding Body Type
Funding Body Subtype
Location
Results and Publications
Publication and dissemination plan
Not provided at time of registration
Intention to publish date
Participant level data
Not provided at time of registration
Basic results (scientific)
Publication list