|Overview of Rare Diseases Research Activities
Congress endowed NCCAM with a broad statutory mandate to conduct and support complementary and alternative medicine (CAM) research, support research training, disseminate information, and facilitate integration of CAM and conventional healthcare delivery to move the CAM field forward. To fulfill its mandate, NCCAM is undertaking a number of challenges and supporting a broad portfolio of research to expand basic and clinical research, including the prevention, evaluation, and treatment of many rare diseases. The research projects supported by NCCAM also test hypotheses for which minimal preliminary data or lack of a conventional biological rationale exists and elucidate mechanisms of action underlying CAM practices.
Recent Scientific Advance in Rare Disease Research
Investigators will address the benefits of acupuncture as adjunct therapy in the treatment of two women’s health conditions. They will apply acupuncture to ovarian cancer patients with chemotherapy-induced neutropenia and to adolescent and young women with endometriosis who experience chronic pelvic pain.
Previous research has indicated that guided imagery and music therapy show promise as intervention techniques to improve mood in patients with cancer. A study on music imagery integration with standard cancer care explores the effect of music imagery therapy on patients receiving intense chemotherapy for acute leukemia or high-grade non-Hodgkin’s lymphoma. Outcomes will include measures of anxiety, depression, and fatigue.
S-adenosylmethionine (SAMe) is a naturally occurring compound that is also available in supplement form. Previous research in animal model studies has shown that SAMe is anti-apoptotic in normal hepatocytes and pro-apoptotic in hepatoma cells and that a fall in hepatic SAMe levels may eventually lead to liver injury and liver cancer. Scientists presently are using additional animal model studies to enhance the understanding of the role of SAMe in liver biology and pathology and its role in serving as a therapeutic agent. Steps toward this goal include examining SAMe’s effect on hepatocyte cell cycle progression in normal and cancerous hepatocytes; elucidating SAMe’s effects on apoptosis in normal versus cancerous liver cells; investigating how SAMe deficiency leads to oxidative stress; and examining whether chronic hepatic SAMe deficiency predisposes to liver fibrosis.
Researchers are performing a double-blind randomized controlled clinical trial in order to investigate whether distance healing (a mental intention on behalf of one person to benefit another at a distance) using Qi Gong may have an effect on the survival time and loss of function of patients with the most common form of brain cancer, glioblastoma. Qi Gong is an ancient Chinese Taoist health exercise for rejuvenating the body’s “internal energy systems.” The Qi Gong sessions, conducted as a complement to standard radiation therapy, are performed at a distance, so that patients and healers never meet and patients are unaware if they are in the healing group.
Researchers have initiated a randomized, controlled study to determine whether electroacupuncture is effective in treating chemotherapy-induced delayed nausea and vomiting in patients with pediatric-type sarcomas, such as Ewing’s sarcoma, resulting in improved management of these symptoms and enhanced quality of life. They also are studying whether acupuncture reduces the psychological stress associated with chemotherapy treatment and thus reverses the negative effects of stress on the neuroendocrine and immune systems.
Amyotrophic Lateral Sclerosis
Scientists are using cell culture studies and relevant animal models to investigate the molecular and cellular mechanisms of action of antioxidants such as alpha-lipoic acid, ethylenediamine tetra-acetic acid (EDTA), desferrioxamine, and uric acid and their safety and efficacy in treating amyotrophic lateral sclerosis (ALS) and other disorders. These studies will provide essential knowledge about dose-response effects, methodologies for advancing CAM therapies to human trials, and side effects. In a separate study, researchers are evaluating the nutritional supplement creatine in a Phase III clinical trial to determine if it may safely improve arm muscle strength and slow the deterioration of motor and pulmonary function of patients with ALS.
Creatine is a widely used dietary supplement principally taken to enhance athletic performance. Scientists are investigating whether creatine can effectively act as a neuroprotectant by preventing oxidative stress, which is conventionally associated with neuronal death in Huntingtons’s disease (HD). Previous research has shown that creatine can improve behavioral and neuropathological phenotypes in HD animal models. Additional preliminary studies have shown that creatine can reduce metabolic stress in humans with HD. The investigators have since initiated a study to determine the potential mechanisms of creatine neuroprotection, test its safety and tolerability in HD patients, and examine how it impacts HD symptoms (e.g., weakness and muscle mass loss) and its progression.
Other Rare Diseases
Sickle Cell Anemia
Investigators are evaluating in-home massage therapy and in-home relaxation training to alleviate pain in African-American adolescents and adults with sickle cell disease. The randomized clinical trial will measure pain, physical functioning, depression, anxiety, and healthcare utilization, such as physician and emergency department visits, hospitalizations, and medicine use.
Crohn's disease and ulcerative colitis [or inflammatory bowel disease, (IBD)] are chronic inflammatory diseases of the gastrointestinal tract. Despite current medical intervention consisting of anti-inflammatory and immunosuppressive agents, symptoms for many patients remain untreatable. Some components of green tea, polyphenols and epigallocatechin-3-gallate (EGCG), have potent anti-inflammatory properties. The investigators proposed this study to provide the basis for determining whether and under what conditions a clinical trial of green tea polyphenols/EGCG should be conducted.
Cystic Fibrosis (CF) is the most common genetic cause of early death in Caucasians. Preclinical evidence suggests that CF lung disease is characterized by excessive inflammatory responses. The investigators are testing their hypothesis that feverfew extracts will check the excessive inflammatory responses in mouse models of CF lung disease by determining the effects of feverfew extracts on lung and body-wide inflammatory responses in mice with CF.
In another study, researchers are evaluating the use of probiotics in children with CF to help prevent antimicrobial resistance in these patients. Staphylococcus aureus, an organism frequently resistant to multiple antibiotics, is an important early cause of complications in children with CF and is usually followed by infection with Pseudomonas aeruginosa. The investigators are conducting a pilot study to evaluate whether orally administered Lactobacillus GG, a probiotic, is effective in getting rid of S. aureus in children with CF and preventing them from also becoming infected with P. aeruginosa.
The therapeutic strategies for lysosomal diseases such as mucolipidosis type IV (MLIV), Tay-Sachs, and Niemann-Pick are very limited. These devastating diseases affect mainly children and adolescents. The investigators are studying the effects of dietary agents on lysosomes in mucolipidosis.