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Climb Book Launched – Inherited Metabolic
Diseases – A Guide to 100 Conditions
Climb has launched its first book of
information on 100 conditions. The book is titled
Inherited Metabolic Diseases – A Guide to 100 Conditions
and contains family-friendly information on a range of
disorders from each of our ten groups. The book is
available to buy from Amazon.com and will also be
available to buy from Climb HQ shortly. Please contact
Climb if you wish to order a copy.
(more)
New Screening Test for all Babies to be
Introduced - MCADD
All babies in England are to be screened
for an inherited metabolic disease called Medium Chain
Acyl CoA Dehydrogenase Deficiency (MCADD), within two
weeks of birth. Babies will be tested by the standard
heel prick test which is routinely carried out after
birth. Once the disorder is diagnosed and treated the
risk of acute, life-threatening episodes needing
emergency and intensive care and of death is
substantially reduced.
(more)
Treatment Hope for Rett Syndrome
The symptoms of Rett Syndrome could be
reversed following findings from the University of
Edinburgh. Experts at the University of Edinburgh have
been able to make symptoms disappear in mice by
activating a specific gene. Research focused on the
behaviour of the MECP2 gene that causes the syndrome to
develop.
(more)
Orphan Europe and Rare Disease
Therapeutics partner to provide Cystadane® to
Homocystinuria patients in USA and Canada
Orphan Europe has signed a licensing
agreement with Rare Disease Therapeutics who will market
Cystadane, indicated for homocystinuria, in USA and
Canada.
(more)
Stem Cells Act Through Multiple
Mechanisms to Benefit Sandhoff Mice
Stem cell study, including the first
successful use of human embryonic stem cells in
degenerative disease, lays ground work for clinical
bridge.
(more)
Amicus Therapeutics Presents Positive
Results from Phase 1 Clinical Studies of Plicera™ for
Gaucher Disease
Amicus Therapeutics has announced today
that it will present positive results from its recently
completed Phase 1 clinical studies of Plicera™ (isofagomine
tartrate, AT2101) for Gaucher disease at the American
College of Medical Genetics (ACMG) Annual Meeting on
March 21-25 in Nashville, TN.
(more)
BioMarin Initiates Phase 2a Clinical
Study of 6R-BH4 in Sickle Cell Disease
BioMarin Pharmaceutical Inc has announced
that the first patient has initiated treatment in the
Phase 2a clinical study of 6R-BH4 (sapropterin
dihydrochloride) for the treatment of sickle cell
disease (SCD). The company expects to announce data from
this study in the first half of 2008.
(more)
VYVANSE™ (lisdexamfetamine dimesylate)
Receives Final DEA Schedule Classification, Clearing Way
for Launch of First Prodrug Stimulant for Treatment of
ADHD
Shire plc has announced that the U.S.
Drug Enforcement Administration (DEA) has classified
VYVANSE (lisdexamfetamine dimesylate, formerly known as
NRP104), as a Schedule II controlled substance,
following the earlier recommendation of the U.S. Food
and Drug Administration (FDA).
(more)
Moorfields hospital carries out world's
first gene therapy operation to cure blindness –
Congenital Leber Amaurosis
BBC News has learned that a team at
Moorfields Eye Hospital in London has carried out the
world's first gene therapy operation in an attempt to
cure blindness in children and young adults. (more)
Daily Steroid Helps Boys with Duchenne's
to Walk
Long-term daily steroid treatments helped
boys with Duchenne muscular dystrophy walk on their own
for a longer period of time and reduced their risk of
scoliosis, an Ohio State University study found.
(more)
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