Condition category
Musculoskeletal Diseases
Date applied
22/11/2006
Date assigned
22/11/2006
Last edited
11/05/2007
Prospective/Retrospective
Retrospectively registered
Overall trial status
Completed
Recruitment status
No longer recruiting

Plain English Summary

Not provided at time of registration

Trial website

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 measures

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

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

Sponsor information

Organisation

Academic Medical Center (AMC) (The Netherlands)

Sponsor details

Department of Pediatrics
P.O. Box 22660
Amsterdam
1100 DD
Netherlands

Sponsor type

Hospital/treatment centre

Website

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

Results - basic reporting

Publication summary

Publication citations

Additional files

Editorial Notes