Riboflavin protocol

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Riboflavin protocol

To further assist the medical communities knowledge of RTD, any suspected or diagnosed cases can contribute to the learning process by following a Riboflavin Protocol and submitting blood samples.

You must in the first instance speak with your Neurologist directly regarding this protocol, we do not advise that you undertake any Riboflavin trial or protocol without the full agreement of your medical professional.

It is suggested that a riboflavin syrup be used, as this has been used successfully amongst the RTD community via oral dosage or via PEG feeding tube.

Protocol riboflavin treatment in Brown-Vialetto-Van Laere syndrome (RTD)
(As provided by the authors of the coinciding article below)
http://link.springer.com/article/10.1007%2Fs10545-010-9242-z

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

Case dependant dosage is Riboflavin 10 mg-50mg per KG in 3 doses daily
There has been no reported cases of Upper dose toxicity and good results have been seen and documented.

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