Canavan disease disease is inherited in an autosomal recessive fashion.
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Canavan leukodystrophy

Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by degeneration of myelin, which is the fatty covering that insulates nerve fibers. more...

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Epidemiology

Although Canavan disease may occur in any ethnic group, it affects persons of Eastern European Jewish ancestry more frequently. About 1/40 individuals of Eastern European (Ashkenazi) Jewish ancestry are carriers, about 1:10,000. Canavan disease is inherited in an autosomal recessive fashion. If both parents are carriers, there is a 25% chance to have an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers.

Cause

Canavan disease is caused by a defective ASPA gene, responsible for the production of the enzyme aspartoacylase. This enzyme breaks down the n-acetyl-asparate acid, which is a toxin. With decreased levels of aspartoacylase comes an increase in n-acetyl-aspartate, which interferes with growth of the myelin sheath of the nerve fibers in the brain. The myelin sheath is the fatty covering surrounding nerve cells that acts as an insulator, and allows for efficient transmission of nerve impulses.

Symptoms

Symptoms of Canavan disease, which appear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., floppiness or stiffness), poor head control, and megalocephaly (abnormally enlarged head). Paralysis, blindness, or seizures may also occur.

Treatment

There is no cure for Canavan disease, nor is there a standard course of treatment. Treatment is symptomatic and supportive. The life expectancy of Canavan patients is not known because new treatments have extended their lives beyond earlier projections. Today, Canavan children often survive into their teens and beyond. Until recently, there was absolutely no hope for Canavan children.

Current research

Paola Leone, Ph.D. and her team are the only researchers in the entire world working directly with Canavan children. Dr. Leone and her team have pioneered a brain gene therapy to halt the progression of the disease. Their research offers a glimpse at treating and eventually eradicating similar degenerative diseases of the brain, such as Parkinson's disease, Alzheimer's disease, Lou Gehrig's disease (ALS), and Multiple Sclerosis.

Dr. Leone and her team are currently at the University of Medicine and Dentistry of New Jersey, in Camden, New Jersey. The brain gene therapy is conducted at Cooper University Hospital. The procedure involves the insertion of six catheters into the brain that deliver a liquid virus containing 600 billion to 900 billion viral particles. The virus is designed to replace the aspartoacylase enzyme. Children treated with this procedure to date have shown marked improvements, including the growth of myelin with decreased levels of the n-acetyl-aspartate toxin.

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Nutra Pharma Reports Positive Results for ReceptoPharm's RPI-78M in Multiple Sclerosis Animal Model
From Business Wire, 10/14/04

BOYNTON BEACH, Fla. -- Nutra Pharma Corp. (OTCBB:NPHC), a biotechnology holding company that owns rights to intellectual property related to the development of drugs for HIV and Multiple Sclerosis, has announced that its minority holding, ReceptoPharm, Inc. has reported the successful completion of studies in an animal model of Multiple Sclerosis (MS).

EAE (experimental allergic encephalomyelitis) is the standard benchmark animal methodology for the study of MS. ReceptoPharm's drug, RPI-78M, proved to be very effective in preventing the onset of disability in acute and chronic models of the disease. The drug was also very effective in preventing the infiltration of immune cells into the central nervous system. This research was conducted to confirm the reported benefits of similar products in immune mediated diseases such as Multiple Sclerosis and Rheumatoid Arthritis.

"The EAE study yielded the results we expected though we were pleasantly surprised at the reduced CNS infiltration by lymphocytes," commented Paul Reid, PhD, CEO of ReceptoPharm. "The results of this study complete the rationale for entering into clinical trials for the MS indication. We are actively working on one IND for the Phase II/III AMN (Adrenomyeloneuropathy) indication and when that is completed we will be in a good position to enter into MS trials," he added.

"These remarkable results provide supporting rationale for our microarray work with RPI-78M," commented James Flowers, President and Chief Scientific Officer of Eno Research and Development, Inc. (ERDI). "After reviewing this study, we expanded our efforts to include analysis of the interactions between the different cell types of the MS lesion," he continued. "Understanding how this compound affects the MS lesion and which genes it modulates, may help us understand the mechanism of action for RPI-78M." Nutra Pharma has engaged ERDI to study RPI-78M and its effects on gene expression using cDNA microarray technology. Their research aims to identify any potentially unique changes in gene expression that may be caused by the therapy.

"RPI-78M reduced the clinical symptoms by more than 80 percent," remarked neurologist Mitchell S. Felder, M.D. "There was also more than an 87 percent reduction in the number of EAE histopathologic lesions. If these results are duplicated in the human trials it could possibly revolutionize the treatment of MS. The results from an EAE model indicate that this drug may also have therapeutic potential for a great number of other neurologic conditions such as Acute Disseminated Encephalomyelitis, Transverse Myelitis, Krabbe's Leukodystrophy, Alexander's Disease, Canavan's Disease and Adrenoleukodystrophy," he concluded.

"These results are very encouraging," commented Rik Deitsch, CEO of Nutra Pharma. "The positive results of the animal model support our move into Phase II human clinical trials," he added.

About Nutra Pharma Corp.

The Company's minority-owned subsidiary, ReceptoPharm, Inc, is developing technologies for the development of drugs for HIV and Multiple Sclerosis ("MS"). The Company's other holding, Infectech, Inc., is engaged in the research and development of diagnostic test kits designed to be used for the rapid identification of infectious diseases such as Tuberculosis (TB) and Mycobacterium avium-intracellulare (MAI). Nutra Pharma continues to identify and acquire intellectual property and companies in the biotechnology arena. http://www.nutrapharma.com

About ReceptoPharm, Inc.

ReceptoPharm is a bio-pharmaceutical company developing proprietary therapeutic proteins for the treatment of several chronic, life-threatening viral, auto-immune and neuro-degenerative disorders, specifically including Rabies, HIV, and Myasthenia gravis (MG).

About Eno Research and Development, Inc.

Eno Research and Development, Inc. (ERDI) is a full-service contract research organization located in Hillsborough, North Carolina, near Research Triangle Park. ERDI offers a wide range of pre-clinical development services to pharmaceutical, biotechnology, medical device, animal health and nutraceutical companies. The scientific staff of ERDI possess expertise in biotechnology, pharmacology, tumor biology, synthetic and analytical chemistry, in silico modeling of drug interaction/binding and rational drug design, as well as microarray technology and bioinformatics. With this expertise, ERDI can offer services ranging from lead discovery through New Drug Applications.

Safe Harbor under the Private Securities Litigation Reform Act of 1995: The statements which are not historical facts contained in this press release are forward-looking statements that involve certain risks and uncertainties including but not limited to risks associated with the uncertainty of future financial results, regulatory approval processes, the impact of competitive products or pricing, technological changes, the effect of economic conditions and other uncertainties as may be detailed in the Company's filings with the Securities and Exchange Commission. Nothing in this press release shall be construed as an offer to buy or sell any securities herein.

COPYRIGHT 2004 Business Wire
COPYRIGHT 2004 Gale Group

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