Not sure how this could or may pertain to GD, but it is worth learning more!

Regenerative Medicine Offers Hope For Incurable Diseases
Revolutionary stem cell therapies could replace diseased body tissues, offering enormous promise for patients with incurable conditions such as Parkinson’s disease and diabetes. Stem cells are immature cells that can divide into various types of cells that make up the bodies different organs and tissues. Stem cell therapy has been used for over 30 years to cure severe blood disorders such as leukaemia. At the 35th Annual Meeting of the European Group for Blood and Marrow Transplantation (EBMT), Prof. Katarina Le Blanc (Karolinska Institute, Stockholm, Sweden) chaired a session in which researchers discussed how stem cell therapy could regenerate other body tissues, thereby greatly improving human health and quality of life.

Regenerative medicine aims to treat currently incurable disorders, including neurodegenerative diseases such as Parkinson’s disease a devastating condition affecting around 6.3 million people worldwide. Regenerative medicine may also be used to treat muscular dystrophy and multiple sclerosis, and to repair or replace nerve cells (or ‘neurons’) damaged by spinal cord injury.

Regenerative medicine also has potential to generate new insulin-producing cells in people with diabetes. Around the world, 180 million people have diabetes and the condition contributes to 1-3 million deaths a year through complications such as heart disease and strokes. People with diabetes are unable to produce sufficient insulin, a hormone that helps control blood sugar levels, because of defects in the insulin-producing cells in the pancreas. Regeneration of these insulin-producing cells could offer a groundbreaking new approach to diabetes therapy.

Other uses of regenerative medicine include the growth of new cardiac muscle cells for patients who have suffered from heart attacks.

Stem cell therapy may either work by providing new stem cells to the patient or by stimulating growth of the patient’s own stem cells. Scientists have recently learned a great deal about how stem cells contribute to the regeneration of tissues in the human body after birth.

Dr Kirsty Spalding and co-workers (Karolinska Institute, Stockholm, Sweden) aged brain neurons by measuring levels of radioactive carbon-14, generated by nuclear bomb tests during the Cold War, in people’s DNA. Neurons in the brain’s cerebral neocortex are as old as the individual, i.e. these cells are only generated around the time of birth and not in adulthood. This means that the body has cannot normally replace these cells if they are damaged or diseased.

Bone marrow ‘stromal’ stem cells are able to differentiate into various types of tissue that form the skeleton, including bone and cartilage. Prof. Paolo Bianco (“La Sapienza” University, Rome, Italy) and co-workers have shown that stromal cells may be used to reconstruct bone, for example in the reconstruction of the face in with patients with injuries.

Experiments conducted by Prof. Yair Reisner and co-workers (Weizmann Institute, Rehovot, Israel) suggest that it in the future it may be possible to grow new organs such as the liver by transplanting stem cells from one individual to another.

Stem cell research and regenerative medicine are rapidly developing research areas, and considerable hope is placed on the use of stem cells in medicine to repair tissue for diseases that are currently not curable.

About the European Group for Blood and Marrow Transplantation

Bone marrow or stem cell transplantation is often the only curative treatment for different malignant diseases and is currently performed on more than 50,000 patients worldwide each year. The European Group for Blood and Marrow Transplantation (EBMT) as the leading non-profit, scientific society representing 527 transplant centres in and outside Europe, promotes all activity aiming to improve stem cell transplantation or cellular therapy. This includes registering all the activity relating to stem cell transplants with a view to improving treatment outcomes for patients. EBMT has set standards for indication and treatment for malignant and non-malignant diseases, along with running training programmes for continual professional development. These are continually audited and updated. EBMT is also responsible for accrediting the transplant centres based on their performance and data reporting.

Other Sites to Check Out:
Medline Plus:  http://medlineplus.gov
NIH – http://www.ninds.nih.gov
National Center for Biotechnology Information – http://www.ncbi.nlm.nih.gov
Healthfinder – http://www.healthfinder.gov
Entrez – http://www.ncbi.nlm.nih.gov/Entrez
National Center for Complementary and Alternative Medicine – http://nccam.nih.gov
Genome Reference Consortium – http://www.ncbi.nlm.nih.gov/projects/genome/assembly/grc
National Health Information Center – http://www.health.gov/nhic
DIRLINE – http://dirline.nlm.nih.gov

New therapy helps boy with rare disease

CHICAGO (Reuters) – A drug used to suppress the immune system in cancer and rheumatoid arthritis has helped extend the life of a Minnesota boy struggling with a rare and deadly form of the genetic disorder Pompe disease.

A team of researchers led by Dr. Nancy Mendelsohn of Children’s Hospitals and Clinics of Minnesota used a novel treatment plan using Rituxan, or rituximab, a drug used for non-Hodgkin’s lymphoma and rheumatoid arthritis made by Genentech Inc and Biogen Idec.

Rituxan is a monoclonal antibody, a genetically engineered immune system molecule. The team used Rituxan in combination with the rheumatoid arthritis drug methotrexate and intravenous gamma globulin, in a bid to damp down the child’s immune response.

“It seems to have worked,” said Mendelsohn, who chronicled the child’s case in the New England Journal of Medicine on Wednesday.

Pompe is an enzyme disease, and many of its youngest victims lack a gene that makes alpha-glucosidase or GAA, which is needed to break down glycogen, a stored form of sugar.

The resulting build up of glycogen damages the muscles, especially the heart and skeletal muscles.

Older Pompe patients often respond to enzyme replacement therapy, but many infants with the “CRIM negative” form of the disease quickly make antibodies to the enzyme and rarely see their first birthday.

Not so for Ira Brown of Minneapolis, whose symptoms first appeared at around five weeks of age.

Stymied by the poor prognosis of infants who develop the genetic disorder, Mendelsohn and colleagues decided to try suppress the child’s immune system to allow him to respond to the enzyme replacement treatment.

At 2-1/2, Brown is now the oldest survivor of the CRIM negative form of the disease.

Mendelsohn is hopeful the treatment will induce tolerance to enzyme-replacement therapy, so the Rituxan may one day be discontinued.

She said the treatment approach is being tried on other children and thinks it may work for other diseases, including hemophilia A and B, Gaucher’s disease and Fabry’s disease.

Improved Metabolic Correction in Patients with Lysosomal Storage Disease Treated with Hematopoietic Stem Cell Transplant Compared with Enzyme Replacement Therapy
Robert F. Wynn, MD, J. Ed Wraith, FRCPCH, Jean Mercer, Anne O’Meara, FRCPI, Karen Tylee, BSc, Margaret Thornley, Heather J. Church, PhD, Brian W. Bigger, PhD

 

Received 22 July 2008; received in revised form 12 September 2008; accepted 3 November 2008.

Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease
Goker-Alpan O, Wiggs EA, Eblan MJ, Benko W, Ziegler SG, Sidransky E, Schiffmann R.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.

OBJECTIVE: To investigate the spectrum and prevalence of cognitive deficits among children with type 3 (chronic neuronopathic) Gaucher disease (GD).

STUDY DESIGN: A case review study identified 32 children (male/female; 17:15) with type 3 GD who had received enzyme replacement therapy (ERT) or a bone marrow transplant. The diagnosis of GD was established by enzymatic assay and DNA testing. Subjects were assessed with standard neuropsychological testing, and data from the most recent evaluation were included.

RESULTS: Neuropsychometric assessments demonstrated a wide spectrum of full-scale IQ scores ranging from 39 to 124 (mean 75). About 60% of subjects had intellectual skills below average. There were significant discrepancies between verbal and performance IQ, with a range between -6 and 38 points (P = .02). This gap was more prominent in older subjects, with better performance in the verbal areas. No correlation was observed between intelligence measures and genotype or the extent of systemic involvement. The dosage, age at initiation, and the length of ERT had no significant effect on IQ scores.

CONCLUSIONS: In type 3 GD, cognitive deficits, characterized by visual-spatial dysfunction, are common but underappreciated and appear resistant to ERT.

PMID: 18571543 [PubMed – indexed for MEDLINE]