RSDSA and American RSDHope Award Research Grant to the Children's Hospital of Los Angeles

RSDSA and American RSDHope Award Research Grant to the Children's Hospital of Los Angeles

Lynne Orsini, Executive Director of American RSDHope, and James W. Broatch, MSW, executive director of the Reflex Sympathetic Dystrophy Association of America (RSDSA ) awarded a $50,000 research grant to Richard Boles, MD, Director, Center for Metabolic and Mitochondrial Disorders at the Childrens Hospital Los Angeles.

Dr. Boles and his team, Essam A. Zaki, Ph.D. Post-doctoral Student, Erin E. Baldwin, MS Genetic Counselor, and Katherine R. U. Heisner, BS, Research Assistant will study Maternally inherited mitochondrial DNA sequence variants and CRPS-I.

Their hypothesis is that is that a brain/nerve energy deficiency that can be caused by maternally inherited changes in the mtDNA code plays an important role in the development of many functional disorders, including CRPS-I. The team will study up to 300 individuals who have been diagnosed with CRPS-I By a physician or other health care providers.

Dr. Boles explains his interest in this subject: "I am a practicing pediatric geneticist/metabolic specialist, as well as a medical researcher in mitochondrial genetics. In my clinical practice, hundreds of families are followed in which multiple matrilineal relatives suffer from neurological disorders, especially intermittent functional conditions. Our interest in complex regional pain syndrome type 1 (CRPS-I) stems from the observation that, in addition to other functional conditions, 12 of my patients have symptoms that meet all of the international diagnostic criteria for CRPS-I. Examples include a 9-year-old girl with severe pain, allodynia (touch perceived as severe pain), swelling and color change to the whole arm and hand for several weeks following an arm bone fracture, and a 14-year-old girl with a change in sensation and color in a stocking-like distribution, with full disability secondary to allodynia following a fall during gymnastics without noted fracture.

"All of those 12 children meet established clinical criteria for the diagnosis of a mitochondrial disorder, and almost all of the family histories are highly suggestive of maternal inheritance. Beyond these 12 children, many more of my patients with mitochondrial disease from families demonstrating maternal-inheritance have frequent episodes of localized extremity pain that doesn't quite meet the CRPS-I diagnostic criteria. Many of their brothers, sisters and mothers have these episodes of pain as well.