Leucine: New treatment for people with Diamond Blackfan transfusion dependent

Hello,

This is a new trial from the USA. I have been in touch with DBA organisation and people for the last days but they cannot make it clear for me why leucine would only help DBA. Does somebody know? First I will give you critera of the study, explanation of DBA and other material.


Eligibility

Ages Eligible for Study:     2 Years and older
Genders Eligible for Study:     Both
Accepts Healthy Volunteers:     No
Criteria
Inclusion Criteria:

* transfusion dependent
* diagnosed with Diamond Blackfan anemia as published in British Journal of Hematology
over age 2 years
* negative B-HCG if patient is a menstruating female and documentation of adequate contraception
signed informed consent
* registration in the Diamond Blackfan Anemia Registry (DBAR) will be offered but not required for study enrollment

Exclusion Criteria:

*hypersensitivity to branched chain amino acids
* inborn error of amino acid metabolism
* evidence of renal impairment
*sulfite sensitivity
* hepatic failure
* pregnancy or plans to become pregnant during the duration of the study

I read this as criteria, but I wonder now it might not be that?
This study will determine the safety and possibility of giving the amino acid, leucine, in patients with Diamond Blackfan anemia(DBA)who are on dependent on red blood cell transfusions.

The leucine is expected to produce a response in patients with DBA to the point where red blood cell production is increased. Red cell transfusions can then be less frequent or possibly discontinued.

The investigators will study the side effects, if any, of giving leucine to DBA patients who are not leucine deficient. This will be determined by studying levels of leucine in the blood before and during the study.

The drug leucine will be dissolved into a liquid for drinking and taken 3 times a day for a total of 9 months.

Primary Outcome Measures:
To determine the feasibility of administering the amino acid leucine and to determine the pharmacokinetics of leucine administration in patients with Diamond Blackfan anemia [ Time Frame: Leucine levels will be monitored with PK testing at baseline, week 2, 1 month, 3 months, 5 months and 9 months of administration +/- one week. ] [ Designated as safety issue: Yes ]
Normal reference blood levels of leucine by age as per Pass,et.al.are described as follows:

Infants 9 to 24 months: 0.59-2.03 mg/dL (45-155 micromol/L) Children 3 to 10 years: 0.73-2.33 mg/dL (56-178 micromol/L) Children 6 to 18 years: 1.03-2.28 mg/dL (79-174 micromol/L) Adults: 0.98-2.29 mg/dL (75-175 micromol/L) This study will evaluate the level of leucine which can be attributed to side effects in relation to decreased or elevated normal values of Leucine

Leucine is:
An essential branched-chain amino acid important for hemoglobin formation.


Questions:
Subquestions:

Participants may not be leucine dependent?
Do you think it really suits only DBA?
Does someone use leucine as supplement?
Do you know papers about leucine and Thal or PKD?
What are our levels?
How do you think about this?
Leucine is a kind of epo? Or they use like it is EPO?

Thank you in advancen,

Dori
Pyruvate Kinase Deficiency
http://bloodjournal.hematologylibrary.org/content/19/3/267.full.pdf
http://www.nlm.nih.gov/medlineplus/ency/article/001197.htm
I will leave it by this. Otherwise, wikipedia may also help.
I came across something what really catch my eye and what I need to study further (PKD related, not DBA).

Dore,

Thanks for posting this, I actually know a little girl with DBF, I will try to get this information to her. 



Sharmin

hi dori hi sharmin

before 1 year i was at the german meeting for DBA.

at this time we hear about the wondermedicine leucine.

gordana and me ,we start imediatly to take it.

i think i told from this in a older post from me.

maby it helps in some cases but in gordanas and in mine

it didnt change something.  we take it for about 9 months.

by the way....the SIKLOS raise my HbF to now 33%.

and we will try to become the drug REVLIMID for gordana

how is a DBA-pazient, but itz s very expensive...

the costs for 28 pills is about 10.000 us dollars.

                                                             panos

Baal, my comfort for her is that nothing is so expensive as eculizumab. What do you think about our chelation?
I hope the people who must decide think about above aspects too. What's Revlimib?
A Dutch woman with this died last year. She would be perfectly fit into this as they do not say anthing about one's fe level.