Paris, november 25 1999
Dear Colleagues and Friends,
I contact you to keep you informed on the recent
progresses observed
in the treatment of heart hypertrophy in Friedreich Ataxia by
idebenone (Mnesis) oral supplementation and on the delicate
problem
we are now facing. We recently reported a preliminary study
showing
the positive effect of the drug on the cardiomyopathy on three
patients ( Rustin, P., von Kleist-Retzow, J.-C.,
Chantrel-Groussard,
K., Sidi, D., Munnich, A., R&endash;tig, A. (1998) Effect of
idebenone in
Friedreich's ataxia: a preliminary study. The Lancet 354:
477-479;
Rustin, P., Munnich, A., R&endash;tig, A. (1998) Quinone analogs
prevent
enzymes targeted in Friedreich ataxia from iron-induced injury in
vitro. Biofactor 1999;9(2-4):247-51; 136. Rustin P, von
Kleist-Retzow
JC, Chantrel-Groussard K, Sidi D, Munnich A, R&endash;tig A. Ataxie
de
Friedreich : 3 ans aprËs l'identification du gËne, un
premier espoir
d'enrayer le cours de la maladie. MÈdecine/Science (in press);
von
Kleist-Retzow, J.C., Chantrel-Groussard, K., Sidi, D., Munnich,
A.,
R&endash;tig, A. und Rustin, P. (1999) Die Friedreich'sche Ataxie: 3
Jahre
nach Identifikation des Gens ein Hoffnungsschimmer f¸r die
Therapie.
Deutsche Medizinische Wochenschrift (in press); all available
upon
request at my email address: rustin@necker.fr ).
We have now new results on 21 patients, aged 6 to
21 years, after 4
to 18 months of treatments. 16 (aged 9-24 y) on 21 patients have
a
significant reduction of their heart hypertrophy (>30%). This
was
observed for 50% of these patients after 4 months of treatment (5
mg
idebenone/kg/d). 2 (both aged 12 y) on 21 had a slight decrease
of
less than 30% (treatment: 3 and 8 months). 3 (6, 11, 21 years old)
on
21 had no change after 3, 6 or 8 months of treatment. No patient
showed an increase in hypertrophy during this short period. None
of
the patients complained of undesirable side effects. Several
patients
noticed general improvement of their condition, in particular
less
fatigability. Delicate movements also seemed improved for several
of
the patients. More quantitative information on neurological effect
of
the drug will be available at the end of the trial presently
taking
place in France and planned to last two years.
Therefore, in light of the present data, it is
already quite clear
that idebenone is a very promising drug. However, first,
additional
open trials should be rapidly started in other places with
perhaps
other posology or in association with other drugs that may
further
improve the defense of the organism against iron. Second, because
the
cardiomyopathy in this disease may reveal quite dangerous, the
drug
should be made available for all the patients at risk as soon as
possible.
But we are now facing a dramatic problem since the drug is not
produced any more by the manufacturer (Takeda Company in Japan),
which few years ago distributed it in several countries all
around
the world. An unknown amount of the drug is still available in
several countries, and is currently available through the
Internet
(about 3 000 $/y for an adult), but this is a limited amount and
we
are facing the risk to get short of the drug rapidly. Contact
with
Takeda is now established in France since more than two years, and
in
the US, through the NIH, since several months. All information we
have from our present French trial has been made available to all
people possibly concerned (and is still available to all of you).
Despite this, there is still no clear indication that Takeda will
decide the resumption of the production, although a positive
outcome
is perhaps still possible (... as it is since one year!).
We therefore took the decision today to publicize
the situation at
the beginning of December taking the opportunity given to us by
the
French Telethon at the TV in order to put maximal pressure on
Takeda
to obtain the resumption of the production. With a similar aim, I
think that parallel pressure should be made coming from as many
places as possible, thereof this email which is send
simultaneously
to both patient's associations, concerned individuals, and
several
clinicians in charge. Let me now your ideas to reach this goal
and
please publicize the information included in this mail as much as
possible.
Yours sincerely,
Pierre Rustin, PhD,
Research Director at the C.N.R.S.
(Centre National de la Recherche Scientifique, France)