Research Goals

Discover New Therapies for Improved Prognosis
and Quality of life

Dr. Charles Venditti, from the National Institute of Health, has continued research on MMA mut-0 (originally started by Dr. Venditti at The Children's Hospital of Philadelphia ) with a goal to develop improved treatments for this metabolic disorder. At NIH, Dr. Venditti is developing animal models of MMA. These include mouse models as well as primitive organisms that can be manipulated easily in the laboratory . The ultimate goal is to develop gene , stem cell and small molecule drug therapies for MMA, which can be tested in the laboratory. The hope is that some day this can be applied to humans.

Clinical Investigations Now Underway

At the NIH hospital, there are also a series of clinical investigations on MMA underway to clinically evaluate patients with methymalonic acidemia and cobalamin metabolic defects. During the clinical studies, Dr. Venditti and his staff will invite MMA patients for an elective inpatient visit to the NIH clinical center.

Depending on individual patient history and needs, a variety of tests will be offered to each patient and family, including mutation analysis in some cases. These studies are open to all individuals with genetic forms of MMA and are fully funded by the NIH, including travel and lodging expenses for patients and parents (guardians).

One important aim of the clinical research is to learn more about the complications seen in MMA of all types so that if new treatments are devised, the effects can be monitored more precisely.

For more information, please refer to:

http://clinicalstudies.info.nih.gov/detail/A_2004-HG-0127.html or, http://clinicalstudies.info.nih.gov/index.html and enter MMA as the keyword .

Dr. Charles Venditti