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