BVVL
International was founded as an aid to anyone interested in uncovering
the mystery of Brown-Vialetto-Van Laere syndrome and ultimately,
in finding a cure.
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Riboflavin Therapy Protocol
Protocol riboflavin treatment in Brown-Vialetto-Van Laere syndrome
(As provided by the authors of the coinciding article)
Before riboflavin supplementation
1. Clinical evaluation
o General examination (including length; weight; OFC)
o Clinical pictures (overview total body; face 2 directions; detail hair)
o Neurological examination (incl testing cranial nerves)
o Hearing test unless performed in last 3m
2. EMG studies unless performed in last 3 m
3. Ultrasound study of the diaphragm unless performed in last 3m
3. First blood sample for Riboflavin/FAD/FMN analysis (see lab protocol below)
Start oral riboflavin supplementation
Riboflavin 10 mg/kg per day in 3 doses,
Maximum 150 mg/day e.g. 3dd 50 mg
After 14 days of supplementation
1. Clinical evaluation
o General examination
o Neurological examination
2. Second blood sample for Riboflavin/FAD/FMN analysis (see lab
protocol)
Please send correctly dated blood samples to laboratory (see protocol)
After 4 weeks of supplementation
1. Clinical evaluation
o General examination (including length; weight; OFC)
o Clinical pictures (overview total body; face 2 directions; detail hair)
o Neurological examination (incl testing cranial nerves)
After 8 weeks of supplementation
1. Clinical evaluation
o General examination (including length; weight; OFC)
o Clinical pictures (overview total body; face 2 directions; detail hair)
o Neurological examination (incl testing cranial nerves)
After 12 weeks of supplementation
1. Clinical evaluation
o General examination (including length; weight; OFC)
o Clinical pictures (overview total body; face 2 directions; detail hair)
o Neurological examination (incl testing cranial nerves)
o Hearing test
2. EMG studies
3. Ultrasound study of the diaphragm
3. Third blood sample for Riboflavin/FAD/FMN analysis (see lab protocol below)
Protocol for measurement of flavins
(riboflavin (vitamin B2), flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD)
Collect fasting venous blood in 5 ml EDTA-coated tubes (minimum 1 ml)
wrapped in aluminium foil and centrifuge immediately at 2200 g for 5 min at 4 0C.
Transfer plasma into plastic tubes and immediately freeze at - 20 0C.
Send frozen samples packed with sufficient dry ice by express courier to:
Academic Medical Center
Laboratory Genetic Metabolic Disease (F0-132)
Meibergdreef 9
1105 AZ AMSTERDAM
The Netherlands
Phone: +31 20 5662026
· The best option may be to send the samples taken before and after starting riboflavin at one time
· Please make sure the samples arrive during week days, and not on the Friday
· Please inform Dr Nico Abeling by email when sending the samples: n.g.abeling@amc.nl,
In case of further questions please contact:
Dr Annet Bosch
Phone + 31 20 566 8890
Fax + 31 20 691 7735
a.m.bosch@amc.nl