Research News

Welcome to the National Information and Advice Centre for Metabolic Diseases Research News Sheet - Vol 1 No 4

The contents of this news sheet has been gathered from around the globe during our research to update our information on metabolic diseases. The contents are general and not specific to our cause.

Thyroid Patient Advocacy -UK (TPA-UK) has recently put together the largest hypothyroid patient survey ever to be carried out in the UK for sufferers of the disease. It is hoped the results of the survey will raise awareness of this debilitating illness, which can strike at any age and affects 1 in 4 of us, mainly women.

Symptoms include unexpected weight gain, hair loss on both head and body, infertility, extreme tiredness, mood swings, loss of libido, coldness, high cholesterol, memory loss, depression and dementia among many others. Because of the wide variety of symptoms experienced, the patient may be wrongly diagnosed, or thought to have other illnesses such as ME, Fibromyalgia (FM), menopause etc.

Some common and often undiagnosed symptoms and dangerous consequences of low thyroid include: serious mental problems, seizures, heart disease, diabetes including misdiagnosis and complications, constipation resulting in colon cancer, all female problems (due to high amounts of dangerous forms of oestrogen), including: tumors, fibroids, ovarian cysts, PMS, endometriosis, breast cancer, miscarriage, heavy periods and cramps, bladder problems leading to infections, and others....

If you wish to take part in the patients' hypothyroid survey, please contact hypothyroidpatientsurvey@tpa-uk.org.uk with your name and postal address, or telephone NSM Research direct on 01865 310073. Alternatively, you may wish to complete this survey on-line on our website www.tpa-uk.org.uk where you will find more information about the condition.

Researchers in Britain and the U.S. have produced embryonic-like cells from umbilical cord blood. It is unclear at the moment whether the cells are truly embryonic stem cells. However, if the stem cells are similar to these cells, experts believe that their discovery may speed the development of treatments for diseases such as diabetes, liver failure, spinal injury, stroke and heart disease, Alzheimer's disease and multiple sclerosis.

Embryonic stem cells are believed to be very rare but have the potential to become any type of cell in the body. So far, the researchers have been able to make liver tissue, proven that these cells can become pancreatic cells and believe the cells could be used to treat cardiovascular disease.

An additional advantage of generating embryonic stem cells from umbilical cord blood is that it bypasses ethical objections surrounding the use of embryonic stem cells.

The prime minister's health policy adviser Professor Julian Le Grand has revealed that individuals with chronic conditions could be given NHS cash to buy their own treatment. In the future, individuals may be able to choose a provider and purchase their own care management programmes. The alternative option is that the patient’s GP commissions a health care provider that specialises in chronic care (e.g. NHS) to manage the patients care in blocks. Experience shows that patients often seem to be better at managing their own conditions and knowing what they need.

The idea has many critics suggesting that allowing blocks of care to be purchased would not be straightforward due to the lack of knowledge between patients and providers and the fact that many people with chronic conditions have more than one set of health needs.

The Department of Health will begin consulting with the NHS on a range of issues surrounding primary healthcare to help shape a white paper on personalised care, due in the autumn.

The U.S. research team led by Professor Claudio Soto from the University of Texas says it can find the infectious ‘prion’ proteins behind such diseases in the blood of experimental animals. The test helps to detect the proteins that cause Mad Cow disease, raising hopes that people could be screened for the human form of the condition, Creutzfeldt-Jackobson disease [vCJD]. The researchers are now refining the method to find prions in people who died from vCJD, using blood samples from British victims. The new test could protect patients receiving blood transfusions and organ transplants, and help experts to predict the size of any future vCJD epidemic. About 180 people worldwide have died from variant Creutzfeldt-Jackobson disease, which is linked to eating mad cow disease infected meat. Scientists warn there could be many more deaths in the coming decades because the disease has an incubation period of up to 40 years. There is currently no reliable way to detect vCJD in blood, with the diseases only confirmed after death.

Professor said, “We believe in six months or so we should have the technology optimized to detect prions in human blood. The next step is to make sure we can detect them in blood before the clinical symptoms appear.”

A blood test would be the simplest way to screen donors and keep infected meat from entering the human food chain, but the prion concentration in blood is too small for it to be detected. So, the researchers have taken a different approach of using a biochemical techniques to amplify the quantity of prions in diseased blood millions of times, making them easier to detect. Scientists believe the BSE epidemic of the 1980s could have exposed millions of people in the UK and Europe to infectious prions. “We want to know what we’re facing in 10 or 20 years from now. Let us see whether we have thousands or hundreds of people infected. We have to be prepared,” Prof. Soto said. Discovering that a large scale epidemic was looming would prompt drug companies to search harder for treatments, he added.

American scientists have created a robotic arm that can be controlled by thought alone. The people it is thought to benefit most would be people who have lost limb function and individuals with spinal cord injuries or disorders of the nervous system. The aim of the robotic arm is to enable people to direct the arm to use an object. This is more effective than a prosthetic arm due to their being no way of controlling the necessary movements. The arm is built like a normal arm with all of the necessary joints.

The arm is controlled by using signals from the brain which are picked up by probes that are inserted into nerve cells in the part of the brain which controls voluntary movement. These signals are then sent through a specially designed computer, which tells the arm how to move. Scientists are now starting work on developing a realistic hand with all of the necessary hand movements.

Sickle Cell Anaemia (SCA) is an inherited disease in which the oxygen-carrying protein in the red blood cells is abnormal, giving the red cells a twisted (sickled) shape that can disrupt circulation, leading to pain, stroke, and other disabling and sometimes fatal complications.

"Sickle cell anaemia is a relentless disease that increasingly disables children as they grow," according to Dr.Ware, an expert in the field of Haematology.

The current treatment for children with SCA who have suffered strokes includes monthly blood transfusions to provide red cells that are not sickled. This ongoing treatment must later be combined with nightly injections of a drug (Desferal®) that eliminates excessive iron buildup caused by regular blood transfusions.

Excessive iron damages internal organs--a condition called haemochromatosis. The nightly injections of Desferal, an iron chelator (molecules that bind to metals so they can be eliminated from the body), are painful and inconvenient, often prompting children to forego the injection, since iron buildup does not initially cause the child discomfort, but the injections always do.

In an attempt to increase the compliance level of the patients to the therapy, a national Phase III clinical trial to investigate whether a new combination treatment can prevent a secondary stroke in children with sickle cell anemia (SCA) and eliminate the need for nightly injections with a drug that reduces iron overload in these patients has been planned.

The study named Stroke With Transfusions Changing to Hydroxyurea (SWiTCH) has been designed to determine if hydroxyurea can replace blood transfusions and if monthly blood withdrawal can substitute for daily injections to treat iron overload.

The goal of SWiTCH is to compare patient outcomes using blood transfusions with outcomes using hydroxyurea. Hydroxyurea will not completely eliminate the sickled red cells, but it is expected to stimulate production of enough red cells carrying foetal haemoglobin to reduce SCA symptoms.

The study will also compare the efficacy of daily at-home injections of Desferal with the less painful and more convenient monthly removal of blood (phlebotomy) at a medical facility. Half of the children in SWiTCH will remain on the standard treatment (transfusions and chelator) while the other half will be treated with the alternative treatment (hydroxyurea and phlebotomy).

The study is supported by a grant of more than $18 million from the National Institutes of Health (National Heart, Lung, and Blood Institute) and includes 20 major paediatric sickle cell centres. Further information at www.medindia.net.

Genzyme Announces Positive Opinion from European Authorities Regarding Clinical Benefit of Fabrazyme

Oxford, UK. – Genzyme Corporation announced today that the Committee for Medicinal Products for Human Use (CHMP) at the European Medicines Evaluation Agency has issued a positive opinion in response to Genzyme’s request to include new evidence of clinical efficacy in its product labelling for Fabrazyme^® (agalsidase beta) in the European Union.

According to the CHMP, the data – drawn from the largest randomised, double-blind, placebo-controlled study ever conducted in Fabry disease – confirm that Fabrazyme administered at a dose of 1mg/kg of body weight every two weeks shows significant clinical benefit. Following review of the data, the CHMP has recommended to the European Commission that approval be granted to Genzyme to add the following information to the label:

The CHMP’s recommendation will now be forwarded to the European Commission for final approval in all EU member states, Iceland and Norway. These data are also currently under review by the U.S. FDA.

Dr. Stephen Waldek, principal investigator of the study, from Hope Hospital in Manchester, UK, said: “This trial provides the first randomized, placebo-controlled evidence that enzyme replacement therapy impacts the clinical outcomes that cause morbidity and mortality in Fabry disease. The ability of Fabrazyme to address these critical organ systems increases our confidence that we can alter the course of disease progression with early and adequate intervention.”

Prof. Christoph Wanner, University Hospital Würzberg, Germany, added: “The reduction in risk of clinically meaningful events seen in this trial highlights the need for early identification of patients with the disease, comprehensive management of symptoms, and prompt initiation of treatment to provide the greatest possible benefits.”

The multinational, multicentre, double-blind, placebo-controlled trial investigating the impact of Fabrazyme on clinical outcomes began in January 2001 at 26 medical centres around the world. It was the largest study ever conducted in Fabry disease, enrolling 82 male and female Fabry patients with mild to moderate renal disease. Patients were randomised 2:1 at each trial site to receive Fabrazyme at a dose of 1 mg/kg every two weeks or a placebo. The trial’s primary endpoint sought to determine whether Fabrazyme would reduce the rate of occurrence of certain clinically important events that mark the progression of Fabry disease, namely renal, cardiac, cerebrovascular events or death.

Fabrazyme was approved in the European Union in 2001 and in the United States in 2003, following completion of a 58-patient Phase 3 trial that demonstrated the ability of Fabrazyme to clear globotriaosylceramide (GL-3) from the blood vessels of the major organs affected in Fabry disease.

Fabry disease is caused by a deficiency of the enzyme alpha-galactosidase A, which leads to the progressive accumulation of lipids, primarily GL-3, within cells of the kidneys, heart, brain and other organs. Clinical manifestations of the disease include renal failure, heart disease, stroke and debilitating pain. It is estimated that 1 in 40,000 males has Fabry disease, whereas the prevalence in the general population is 1 in 117,000 people. The average life expectancy of patients with the disease is 43 years.

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