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“Researching information.”
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Changing Lives
We
hope that this information is of value to you.
If you
have come across any information that you believe would
be of interest to others then please email it to
Helen@climb.org.uk
The
National Information and Advice Centre for Metabolic
Diseases.
“Working for the rare”.
The National Information Centre for Metabolic Diseases
Tel: 0845 241 2173 |
FDA designates
Carbaglu® for treatment of NAGS deficiency as a Fast
Track product.
The Food and Drug Administration (FDA) in the USA has
concluded that Carbaglu® (carglumic acid) for treatment
of N-acetylglutamate synthase (NAGS) deficiency meets
the criteria for fast track designation. Fast Track Drug
Development Programs are designed to facilitate the
development and expedite the review of such very
promising new drugs. (more)
Fragile X Study
May Hold Autism Clue
Scientists report reversing symptoms of
fragile X syndrome, a common genetic cause of
autism and mental retardation, in lab tests
on mice. The findings may eventually lead to the
development of drugs for fragile X syndrome and perhaps
for autism, according to the researchers.
(more)
Trial of vitamin C
in Charcot-Marie-Tooth disease
A trial of vitamin C in Charcot-Marie-Tooth Disease type
1a is due to start at the National Hospital for
Neurology and Neurosurgery (NHNN). The trial is being
co-ordinated by Dr Mary Reilly, a consultant neurologist
at NHNN. The main aim of this trial is to assess
whether vitamin C is helpful as a treatment for patients
with Charcot-Marie-tooth type 1a (CMT1A). The title of
the trial is CMT-TRAUK (CMT-Trial with ascorbic acid UK)
and this will be the first drug trial conducted in
patients with CMT1A . (more)
Scientists Tackle
Treatment for World’s First Known Genetic Disease
Scientists are finally tackling a genetic disease first
discovered more than a century ago, according to results
to be presented at the international Alkaptonuria (AKU)
Society conference to be held at University College
London Hospital on Wednesday 13 June 2007. Research is
ongoing to find out how homogentisic acid affects
patients with AKU and whether gene therapy is a possible
treatment. (more)
New Hope for
Children with Rare Diseases
Children suffering from a group of rare, progressive
diseases have been given new hope with the granting of a
special prescribing licence to Birmingham Children’s
Hospital NHS Foundation Trust (BCH). For the first time
these Midland children can be treated close to home with
drugs capable of slowing down the progress of their
disease. (more)
Drug Combo
Overcoming Rare Genetic Disorders – Urea Cycle Disorders
Doctors are recording a remarkable victory over a set of
rare but potentially fatal inherited conditions
affecting what's known as the urea cycle. The treatment
uses a combination of two chemicals -- sodium
phenylacetate and sodium benzoate -- delivered
intravenously to bring down ammonia levels.
(more)
Shire’s ELAPRASE™
(idursulfase) Approved by Health Canada for Treatment of
Hunter Syndrome
Shire plc has announced that Health Canada (under
priority review) has approved ELAPRASE, a human enzyme
replacement therapy for the treatment of Hunter
syndrome, for sale and marketing in Canada. Hunter
syndrome, also known as Mucopolysaccharidosis II (MPS
II).
(more)
Phase II trial for
Zymenex lethal disease treatment candidate
Zymenex has initiated the Phase II part of the clinical
trial in seriously ill children with
MLD. The trial will hopefully show the
way to a cure for the rare and until now incurable
disease, Metachromatic Leukodystrophy (MLD), which is
diagnosed in children between the ages of 2-5 years.
Zymenex sees “2007 as a challenging year, with crucial
phases for the development of the company’s lead
project, the enzyme Metazym”. (more)
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