Help FA in SA

Part 2 Letter from Ron Bartek

noreply@blogger.com (Laurel Hosking) — Sun, 15 Jan 2012 20:19:00 +0000

Here is part two from Ron.

-------------
Dear friends,

I had hoped to post within a couple of days a Part II to the message I
sent last week. Sorry to take so long. The reason for the delay,
however, is pretty good news. Jen Farmer and I have been spending a lot
of our time this week, as we have for some time now, communicating with
and about drug companies. Some of these constant communications are
with FARA's existing pharmaceutical partners (a baker's dozen or so).
Others are with companies that have come to FARA recently proposing that
we collaborate with them on compounds and therapeutic approaches they
believe show promise of being beneficial for FA patients. Others,
still, are with companies we are asking to consider partnering with some
of the leading FA scientists to develop the compounds these
investigators have "discovered" and with which they need additional
expertise and resources to move through pre-clinical and clinical
research.

You know a good bit about that first category of companies -- those with
whom FARA has been working for some time on drugs about which we are all
very hopeful. More about some of them later. Let me tell you just a
little about that second category of companies -- those that have been
approaching FARA seeking collaboration on compounds and therapeutic
approaches they believe could be beneficial in FA.

I'll give just a few recent examples. Last year, a small company,
Intellect Neurosciences, contacted FARA about a mitochondrial compound
they were excited about because of its strong potential for benefit to
FA patients. FARA met with the company several times to explore that
potential and, in September, Intellect Neurosciences announced it had
licensed its compound, OX-1, to ViroPharma Inc. of Exton, PA. Soon
thereafter, Jen Farmer, Kyle Bryant and I went to ViroPharma and gave a
full-blown presentation on FA and FARA to the entire company. The
company's passion and commitment were already much in evidence and they
have made it clear that they want to advance OX-1 promptly in FA and,
beginning immediately, to become a strong ally and partner to FARA and
the FA community. They have already begun to attend FARA scientific
meetings, like the Philadelphia Symposium, communicate with FARA
scientific advisors, and to devote staff and resources to getting
involved and being helpful in FARA events and activities nation-wide.

Several other companies, over just the last month or two, have
approached FARA about compounds they have in their portfolios and have
demonstrated to some extent in their own experiments some potential
benefit in FA. We continue the discussions with these companies so as
to review the potential for benefit and decide if collaboration on
further development makes sense. Obviously, not all of these proposals
will bear fruit but I think you will share our excitement over the fact
that FARA and the FA community have reached the tipping point at which,
finally, drug companies are actually seeking us out trying to convince
us that we should collaborate with them. For years earlier, FARA was
always the one that would approach the drug companies trying to convince
them to collaborate.

Finally, some of the companies that have been approaching FARA do not
have compounds of interest in their own portfolios. Rather, these
companies ask FARA to make recommendations of FA scientists whose work
holds potential for the company in terms of licensing a discovery for
clinical development. That, too, represents a real tipping point for
the FA community as we have been far more accustomed to knocking on
pharmaceutical doors looking for possible partners for FA scientists.

Currently, we are seeking near-term pharmaceutical partners for three FA
scientists including Dr. Mark Payne and his TAT-Frataxin program. Many
of you have seen his excellent publication at
http://hmg.oxfordjournals.org/content/early/2011/11/23/hmg.ddr554.abstract?ct=ct. As this article makes clear, Dr. Payne's TAT-Frataxin has demonstrated the ability in severely affected FA mice to increase growth and mean lifespan by 53 percent, and to increase mean heart rate and cardiac output. Dr. Payne and I plan to be in Houston together on January 26 to meet with a world-class cardiologist at the Texas Heart Institute to seek his assistance in elevating FA research in the global cardiology community. While in Houston, Dr. Payne and I will also be discussing next steps in securing the best possible pharmaceutical partner for his TAT-Frataxin program.

I'll stop here for now so as to keep this message at a readable
length. Will return as soon as possible with the next installment.

Warm regards,

Ron

Ronald J. Bartek
President
Friedreich's Ataxia Research Alliance (FARA)
P. O. Box 1537
Springfield, VA 22151
Tel (703) 426-1576
FARA website: http://www.CureFA.org
Email: fara@CureFA.org
Please register in the FARA Patient Registry at
http://www.curefa.org/registry/ and for e-news at
http://visitor.constantcontact.com/email.jsp?m=1101190303489

.

Letter from Ron Bartek part 1

noreply@blogger.com (Laurel Hosking) — Sun, 15 Jan 2012 20:18:00 +0000

Hi everyone,

Here is a letter from Ron Bartek regarding FARA and drug companies and
trials.
-----
Dear friends,
Wanted to provide the link to FARA's press release that we just posted
on the FARA website, providing some information on the HDAC inhibitor
and the imminent trial in Italy. Please see
http://www.curefa.org/_pdf/PressRelease01-05-2012.pdf.

I hope to be able to get back to the group later today with some
comments and perspectives regarding some of the drug development themes
in the group's recent discussions.
Warm regards to you all,
Ron

Press Release from FARA (US)

noreply@blogger.com (Laurel Hosking) — Fri, 06 Jan 2012 01:40:00 +0000

This is regarding the HDAC inhibitor we have been watching so
closely....
WONDERFUL

FOR IMMEDIATE RELEASE
New Clinical Trial in Friedreich's Ataxia in Italy

FARA, January 5, 2012 -- The Italian Health Ministry and the Ethics
Committee of the San Luigi Hospital in Torino, Italy, have given
investigators at the hospital approval to initiate a Phase I clinical
trial of a new drug designed specifically to treat Friedreich's ataxia.
After additional study site preparations, this Phase I trial will test
the Repligen drug, known as RG2833, in patients with Friedreich's
ataxia. The investigators will aim to find out whether the drug is safe,
and to learn more about its effects in Friedreich's ataxia patients. In
particular, they will determine if RG2833 increases production of
frataxin, a key protein that is diminished in people with Friedreich's
ataxia. Because lower frataxin levels are the base cause of Friedreich's
ataxia symptoms, it is hoped that, if RG2833 acts to increase frataxin
production, it could be beneficial to Friedreich's ataxia patients.
RG2833 is a type of drug called a Histone Deacetylase (HDAC) inhibitor
and is being developed by Repligen working with an international team of
scientists. HDAC inhibitors may provide a way to increase frataxin
protein production by "switching on" the frataxin gene, which is too
often "switched off" in people with Friedreich's ataxia. RG2833 has been
awarded orphan drug designation by the U.S. Food and Drug Administration
and the EMA. The development of HDAC inhibitors for Friedreich's ataxia
has been supported by FARA and other patient advocacy groups including
the Muscular Dystrophy Association and GoFAR. Repligen has indicated
that when the final preparatory steps are complete and the first patient
is enrolled in the Italian trial, more details will be made available on
the status of this study and global plans for the drug's development.
About FA
FA is a rare, degenerative, life-shortening neuro-muscular disorder that
affects children
and adults and involves the loss of strength and coordination usually
leading to wheelchair use; diminished vision, hearing and speech;
scoliosis (curvature of the spine); increased risk of diabetes, and a
life-threatening heart condition. There are currently no effective
treatments. About FARA The Friedreich's Ataxia Research Alliance (FARA)
is a 501(c)(3), non-profit, charitable organization dedicated to
accelerating research leading to treatments and a cure for Friedreich's
ataxia. www.CureFA.org Contact: Jennifer Farmer Executive Director,
Friedreich's Ataxia Research Alliance (484) 879 6160 info@curefa.org

FAmily Forum

noreply@blogger.com (Laurel Hosking) — Mon, 21 Nov 2011 00:04:00 +0000

Mitochondrial Pathology in Parkinson's Disease

noreply@blogger.com (Laurel Hosking) — Sat, 19 Nov 2011 00:02:00 +0000

http://onlinelibrary.wiley.com/doi/10.1002/msj.20303/full

Changes in mitochondrial glutathione levels and protein thiol oxidation in ∆yfh1 yeast cells and the lymphoblasts of patients with Friedreich's ataxia

noreply@blogger.com (Laurel Hosking) — Sat, 19 Nov 2011 00:01:00 +0000

http://www.sciencedirect.com/science/article/pii/S0925443911002535

Analysis of Echocardiograms in a Large Heterogeneous Cohort of Patients With Friedreich Ataxia

noreply@blogger.com (Laurel Hosking) — Sat, 19 Nov 2011 00:00:00 +0000

http://www.sciencedirect.com/science/article/pii/S0002914911029390

A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

noreply@blogger.com (Laurel Hosking) — Fri, 18 Nov 2011 23:59:00 +0000

http://www.sciencedirect.com/science/article/pii/S0002929711004393

Initial Experience in the Treatment of Inherited Mitochondrial Disease with EPI-743

noreply@blogger.com (Laurel Hosking) — Wed, 02 Nov 2011 00:13:00 +0000

This is potentially very exciting.
http://www.sciencedirect.com/science/article/pii/S1096719211003787

Patient Family Forum

noreply@blogger.com (Laurel Hosking) — Wed, 26 Oct 2011 09:39:00 +0000

FARA(A) announced it will be holding its inaugural patient family forum,
to be held on Sunday November 27th in Melbourne.

FA in SA is proud to be a part of this event, and we look forward to
seeing many patients and families at this wonderful event.

Further details to follow shortly

SA scientist to speak at FARA(A) Review meeting

noreply@blogger.com (Laurel Hosking) — Wed, 26 Oct 2011 09:28:00 +0000

Dr Tara Pukala of the University of Adelaide, recently spoke of her work
in Genetic Protein Structure and the consequences for Human Disease.
FARA(A) has now invited her to share her research concepts at the
Scientific Review meeting to be held at end of November.

FA in SA is very excited by this, and looks forward to hearing more of
her exciting work

http://blogs.adelaide.edu.au/researchtuesdays/2011/09/14/infiltrating-the-cell/

http://www.adelaide.edu.au/directory/tara.pukala

Sunshine not so FREE

noreply@blogger.com (Laurel Hosking) — Fri, 14 Oct 2011 10:36:00 +0000

Please Share

When I was married, I was astounded at the massive profit margin on
anything to do with weddings!

When I was pregnant, I was astounded at the massive profit margins on
anything to do with babies!

When I became the mother of a disabled child, all the rest paled into
insignificance.

Society is often encouraged to get fit and stay active, and the
promotion of "free" activities like getting outside and walking or
running are favourites.... well there is nothing free about getting
outside for the disabled.

Basic equipment to enable the disabled are astronomical.... believe me,
getting into that sunshine, has never been so expensive.

Recently I was pricing a new accessory for a wheel chair, nothing much,
just a couple of handles attached to the axle. $5000. and that's
BEFORE the cost of the wheelchair.

A simple small crane to lift a mobility scooter into and out of the
car .... $6000

These are just a couple examples, but you get the idea.....Is this
covered by health insurance????

NO!

Does the government cover this?

NO!

Do Charities cover this?

TO A POINT!... but there are LONG cues... meanwhile we stay inside

So next time you are out walking and enjoying the sun, be thankful....
somewhere nearby where you are walking, there is probably a disabled
family, struggling to enjoy this basic free right!

Research news

noreply@blogger.com (Laurel Hosking) — Tue, 11 Oct 2011 23:14:00 +0000

Here are some reasearch items of interest

Mesenchymal Stem Cells Restore Frataxin Expression and Increase Hydrogen
Peroxide Scavenging Enzymes in Friedreich Ataxia Fibroblasts
http://www.plosone.org/article/info%3Adoi%2F10.1371%
2Fjournal.pone.0026098

DELIVERY OF MRNA FOR THE AUGMENTATION OF PROTEINS AND ENZYMES IN HUMAN
GENETIC DISEASES
http://www.freepatentsonline.com/y2011/0244026.html

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct
Clinical Subtype of Neurodegeneration with Brain Iron Accumulation
http://www.sciencedirect.com/science/article/pii/S0002929711003971

Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich’s ataxia

noreply@blogger.com (Laurel Hosking) — Tue, 19 Jul 2011 11:16:00 +0000

This is interesting.

http://nar.oxfordjournals.org/content/early/2011/07/09/nar.gkr542.short

New project: Identification of the E3 ligase that ubiquitinates frataxin

noreply@blogger.com (Laurel Hosking) — Mon, 13 Jun 2011 09:06:00 +0000

Identification of the E3 ligase that ubiquitinates frataxin
Principal researcher: Dr Roberto Testi, Department of Experimental
Medicine,
University of Rome, 'Tor Vergata,' Italy
Scientific summary
Understanding whether and how frataxin is normally degraded might
provide insights
on possible strategies aimed at preventing frataxin degradation in FRDA
patients,
thus allowing frataxin accumulation and increasing frataxin
bioavailability. We
observed that frataxin is degraded via the ubiquitin-proteasome system
and that by
preventing the degradation process, frataxin levels in fact rise in FRDA
cells. We also
identified the lysine responsible for ubiquitination. In fact, a
frataxin lacking the critical
lysine cannot be ubiquitinated and has a longer half life. We now plan
to identify the
E3 ligase(s) that interacts with frataxin and mediates frataxin
ubiquitination. This
information should reveal new potential pharmacological targets for
FRDA.
Lay summary
FRDA is caused by the low levels of the protein frataxin in cells of
affected
individuals, due to scarce production. Since normally all proteins are
constantly
produced and degraded, one way to possibly increase frataxin levels is
to slow down
its degradation. We therefore started to understand the mechanisms by
which
frataxin is degraded in human cells. The aim of this project is to
refine our
understanding of the modalities of frataxin degradation and to further
elucidate the
molecular mechanisms. This information could be instrumental in
developing new
therapeutic approaches focused on preventing frataxin degradation.
This project is co-funded with the Friedreich's ataxia Society Ireland
(FASI).
For more support or information please contact: Ataxia UK, Lincoln
House,
Kennington Park, 1 – 3 Brixton Road. London SW9 6DE
Website: www.ataxia.org.uk.
Helpline: 0845 644 0606 Tel: +44 (0)20 7582 1444 Fax: +44 (0)20 7582
9444
Email: helpline@ataxia.org.uk.

FARA Press Release

noreply@blogger.com (Laurel Hosking) — Sun, 12 Jun 2011 02:35:00 +0000

FOR IMMEDIATE RELEASE
EPI-A0001 Improves Neurological Outcome Endpoint in 28-Day Phase 2A
Double-Blind Placebo-Controlled Clinical Trial in Friedreich's Ataxia
Clinical trial being designed to confirm encouraging results
FARA, June 11, 2011 – In its release issued Friday, Edison
Pharmaceuticals, Inc.
announced that EPI-A0001 significantly improved neurological function as
assessed by the
Friedreich's Ataxia Rating Scale (FARS). The trial did not show
significant improvement in
the primary endpoint of glucose disposition index (a measure of the
body's glucose
handling). The three arms of the trial consisted of placebo, low dose
and high dose of
EPI-A0001. The FARS scores improvements were reported to be
statistically significant in
both the low and high dose groups when compared to the placebo group.
There were no
differences between the placebo group and the two drug-treated groups in
the rates of
drug-related adverse events.
Dr. David Lynch, the principal investigator of the trial, said, "We are
working closely with
Edison, the U.S. Food and Drug Administration (FDA) and our colleagues
in FARA's
Collaborative Clinical Research Network in Friedreich's Ataxia to design
extended duration
clinical trials to verify this encouraging data." FARA President Ron
Bartek added, "FARA
would like to thank the patients and patient families who participated
in this very
promising clinical trial. We look very much forward to working with the
FA patient
community, Edison and the clinical investigators as EPI-A0001 takes its
next steps through
clinical development toward the treatment goal for which we are all
striving together."
FARA has been involved in the development of EPI-A0001 from its
pre-clinical
development stage. In 2006, Dr. Robert B. Wilson, Edison Pharmaceuticals
and FARA as
co-applicants were accepted into the National Institutes of Health Rapid
Access to
Intervention Development (RAID) Pilot Program. Support by this NIH
program accelerated
EPI-A0001 clinical development. Additionally, FARA has awarded multiple
grants to Edison
for the development of both EPI-A0001 and EPI-743. FARA will continue
working hand-inhand
with Edison, the investigator team, and the patient and physician
community to
begin implementation of further EPI-A0001 prospective trials.
About FA
FA is a rare, degenerative, life-shortening neuro-muscular disorder that
affects children
and adults and involves the loss of strength and coordination usually
leading to wheelchair
use; diminished vision, hearing and speech; scoliosis (curvature of the
spine); increased
risk of diabetes, and a life-threatening heart condition. There are
currently no effective
treatments.
About FARA
The Friedreich's Ataxia Research Alliance (FARA) is a 501(c)(3),
non-profit, charitable
organization dedicated to accelerating research leading to treatments
and a cure for
Friedreich's ataxia. www.CureFA.org
Contact:
Jennifer Farmer
Executive Director, Friedreich's Ataxia Research Alliance
(484) 879 6160
info@curefa.org

important press release and HOPE

noreply@blogger.com (Laurel Hosking) — Sun, 12 Jun 2011 02:13:00 +0000

Hi everyone,

here is an exciting press release, and WHY fundraising dollars are so
important.

cheers

Laurel

Letter from Ron Bartek re press release

noreply@blogger.com (Laurel Hosking) — Wed, 08 Jun 2011 23:37:00 +0000

Hello all,

We know we do not want to put all our research eggs in any one basket -
we want as many really promising eggs as we can incubate in as many
baskets (FA disease mechanisms) as we can identify.

The disease baskets we are carrying right now include:
1. The mitochondrial dysfunction basket - the shortage of frataxin
protein in FA patients leads to their mitochondria producing far less
energy and far more oxidative stress that kills their cells. The eggs
we have been incubating in this basket include CoQ10, Idebenone, A0001
and EPI-743,as well as Pioglitazone and Resveratrol, each of which has
been aimed at improving mitochondrial function in cells with reduced
frataxin protein. The CoQ10 and Idebenone eggs have not hatched
successfully. We continue to support advancement of the other
mitochondrial agents in hopes that they will hatch by showing in
"pivotal" (phase 2B/phase 3) trials that they are safe and capable of
increasing energy and reducing oxidative damage in our patients so they
can be approved as treatments for FA. The FDA has awarded both A0001
and EPI-743 "orphan drug designation" which means that the FDA judged
that:

a. FA is an orphan disease (fewer than 200,000 U.S. patients), and
b. the applications for both A0001 and EPI-743 presented sufficient
evidence/data that the drug holds potential for benefitting FA patients.

Orphan drug designation also carries significant incentives for the drug
company. For example, if an application for drug approval is submitted
to the FDA following the pivotal trial, the review of the application is
expedited (the review might take six months rather than 18 months). If
the drug is approved, the company would receive seven years of
exclusivity in the market for that drug for treatment of that
disease. The company would also be given tax breaks amounting to up to
50 percent of the funds it expended in developing the drug.

The FDA's approval of additional "Expanded Access" for the treatment of
"seriously ill" patients with mitochondrial disorders refers to the
emergency treatment of about forty patients so far with various late- or
final-stage conditions (two with FA, the others seriously ill
with different mitochondrial dysfunction disorders). Today's
announcement indicates that some additional patients that are seriously
ill with such late- or final-stage conditions will be eligible for such
emergency treatment with EPI-743. FARA is seeking guidance as to how,
when and where such treatments are to be managed.

2. The other disease mechanism baskets we are all carrying together
right now include the efforts to increase the frataxin protein levels
available to FA patients (HDAC inhibitor, EPO, CEPO, TAT-Frataxin,
gene-replacement, etc.), and the efforts to reduce the amount of toxic
iron in the mitochondria (for example, the iron chelator Deferiprone).

With everybody's continued support and participation in the clinical
research, FARA's plan is to keep filling the pipeline with promising
drug discoveries and to keep pushing the clinical development of those
drugs until we all achieve the treatments and cure to which the FA
family is committed.

Hope that helps,
Ron

Ronald J. Bartek
President
Friedreich's Ataxia Research Alliance (FARA)
P. O. Box 1537
Springfield, VA 22151
Tel (703) 426-1576
FARA website: http://www.CureFA.org
Email: fara@CureFA.org
Please register in the FARA Patient Registry at
http://www.curefa.org/registry/ and for e-news at
http://visitor.constantcontact.com/email.jsp?m=1101190303489

FARA press release

noreply@blogger.com (Laurel Hosking) — Wed, 08 Jun 2011 23:37:00 +0000

Hi everyone, FARA has released this press release on the status of
EPI-743/

I will also send through an email from Ron Bartek, explaining what this
means.

FARA Pipeline

noreply@blogger.com (Laurel Hosking) — Wed, 08 Jun 2011 01:53:00 +0000

Hi.

here is a link to the current FARA research pipeline.... its worth
having a look and see just how international the effort is.

http://www.curefa.org/pipeline.html

Anesthetic management of a patient with spinocerebellar degeneration

noreply@blogger.com (Laurel Hosking) — Tue, 07 Jun 2011 02:46:00 +0000

http://www.joacp.org/article.asp?issn=0970-9185;year=2011;volume=27;issue=2;spage=249;epage=252;aulast=Vadhanan

Utilisation of Advance Motor Information is Impaired in Friedreich Ataxia

noreply@blogger.com (Laurel Hosking) — Tue, 07 Jun 2011 02:45:00 +0000

yet another example of the good work our aussie team are doing!

http://www.springerlink.com/content/b820227u40193562/

In children with Friedreich ataxia, muscle and ataxia parameters are associated

noreply@blogger.com (Laurel Hosking) — Tue, 17 May 2011 09:26:00 +0000

an interesting abstract

http://www.ingentaconnect.com/content/bpl/dmcn/2011/00000053/00000006/art00014

Early Changes in Left Ventricular Long-Axis Function in Friedreich Ataxia: Relation with the FXN Gene Mutation and Cardiac Structural Change

noreply@blogger.com (Laurel Hosking) — Tue, 17 May 2011 09:26:00 +0000

http://www.onlinejase.com/article/S0894-7317%2811%2900237-9/abstract

info on drug trial

noreply@blogger.com (Laurel Hosking) — Fri, 22 Apr 2011 22:16:00 +0000

Here is a link to the Resveratrol drug trial being conducted in
Australia. A recent email discussion with Assoc/ Professor Delatycki
told me, he is confident on achieving the number of participants
required from the local FAers, and at this stage will not be seeking
beyond the borders of the state of Victoria, due mainly to the servicing
needs of the trial.

Still it is interesting to read about it, and know what is going on.

http://www.clinicaltrials.gov/ct2/show/NCT01339884?term=friedreich%27s
+ataxia&rcv_d=14