Clinical Trial Launched to Assess Safety and Efficacy of Autism Drug Treatment

UC San Diego researchers open first study of suramin in children with autism —

Researchers at the University of California, San Diego School of Medicine have launched a clinical trial to investigate the safety and efficacy of an unprecedented drug therapy for autism.

The phase 1 clinical trial, which is recruiting 20 qualifying participants, will evaluate suramin – a century-old drug still used for African sleeping sickness – as a novel treatment for children with a diagnosis of Autism Spectrum Disorder (ASD). Previous published research by Robert K. Naviaux, MD, PhD, professor of medicine, pediatrics and pathology at UC San Diego School of Medicine, and colleagues reported that a single injection of suramin reversed symptoms of ASD in mouse models. …Read the full story from the UC San Diego Newsroom


Senior author Robert K. Naviaux, MD, PhD, is professor of medicine in the Division of Medical Genetics. He co-directs the Mitochondrial and Metabolic Disease Center at UC San Diego.

Visit the Naviaux Laboratory website

Potential Nutritional Therapy for Childhood Neurodegenerative Disease

Researchers at the University of California, San Diego School of Medicine have identified the gene mutation responsible for a particularly severe form of pontocerebellar hypoplasia, a currently incurable neurodegenerative disease affecting children. Based on results in cultured cells, they are hopeful that a nutritional supplement may one day be able to prevent or reverse the condition…. Read the full story from the UCSD Newsroom


Robert K. Naviaux, MD, PhD, is a coauthor of the study. He is professor of medicine in the Division of Medical Genetics and professor in the departments of pediatrics and pathology.

Naviaux leads a medical genetics research laboratory whose two major areas of study are the mitochondrial mechanisms of disease and development and evolutionary systems biology and marine metagenomics. He is founder and co-director of the UC San Diego Mitochondrial and Metabolic Disease Center.

Citation for the report:  Naiara Akizu, Vincent Cantagrel, Jana Schroth, Na Cai, Keith Vaux, Douglas McCloskey, Robert K. Naviaux, Jeremy Van Vleet, Ali G. Fenstermaker, Jennifer L. Silhavy, Judith S. Scheliga, Keiko Toyama, Hiroko Morisaki, Fatma M. Sonmez, Figen Celep, Azza Oraby, Maha S. Zaki, Raidah Al-Baradie, Eissa A. Faqeih, Mohammed A.M. Saleh, Emily Spencer, Rasim Ozgur Rosti, Eric Scott, Elizabeth Nickerson, Stacey Gabriel, Takayuki Morisaki, Edward W. Holmes, Joseph G. Gleeson. AMPD2 Regulates GTP Synthesis and Is Mutated in a Potentially Treatable Neurodegenerative Brainstem Disorder. Cell, Volume 154, Issue 3, 1 August 2013, Pages 505–517 http://dx.doi.org/10.1016/j.cell.2013.07.005  Read the report

Related Stories:

Drug Treatment Corrects Autism Symptoms in Mouse Model – March 14, 2013

$5.9 Million Grant to UC San Diego for Paradigm-Shifting Diabetes Research – October 3, 2011

Next Generation: Thomas Ohno-Machado Lobbies for Federal Research Funding

One in a Series of Occasional Stories About Faculty Members’ Children

Dr. Lucila Ohno-Machado and Thomas Ohno-Machado with Senator Barbara Boxer Lucila Ohno-Machado, MD, PhD; her son Thomas and California Senator Barbara Boxer.

Recently, to his mother’s wonderment, 17-year-old Thomas Ohno-Machado revealed that he is interested and quite active in politics.

It seemed to happen overnight, his mother said, and without any particular encouragement from his parents. “It doesn’t run in the family,” she mused.

Thomas, a senior at Torrey Pines High School, is the oldest of Dr. Lucila Ohno-Machado’s three sons. Lucila Ohno-Machado, MD, PhD, is associate dean for informatics for the UCSD School of Medicine and professor and chief of the Division of Biomedical Informatics in the Department of Medicine.

Thomas is now the founder and president of the Torrey Pines High School Autism Awareness Club and an advocate for children with disabilities. He and his friends have successfully organized a funding drive and raised money to benefit a local school for children with special needs.

One day out of the blue Thomas asked Dr. Ohno-Machado, “Mom, can we go to Washington, DC?”

It turned out he had written to Senator Barbara Boxer’s office and arranged to visit and express his concerns about federal support for biomedical and behavioral research, particularly for the National Institutes of Health, and for the increasing numbers of children who have special needs.

Dr. Ohno-Machado agreed to go. She arranged for him to add a one-day visit to Washington DC to a trip she had already scheduled. He purchased his first suit, from Macy’s, and carried it on the plane so that it would not wrinkle in flight.

She suggested he prepare for his audience with the senator, and he assured her, “Don’t worry.”

They arrived at Senator Boxer’s office and, with the Archbishop of California and a California judge who had come in with them, waited their turn to speak with one of the senator’s staff members.

The time came. Prepared with statistics to back him up, Thomas Ohno-Machado expressed his concern and asked to know what the senator was going to do about federal medical research funding and the rising numbers of special needs children in the United States.

The senator’s staffer responded by showing Thomas documents detailing how Senator Boxer and another senator are addressing these issues.

Said Dr. Ohno-Machado of the meeting, “I didn’t speak a single word.”

She and Thomas had tried but weren’t able to set up a visit to California Senator Diane Feinstein’s office on the same trip. In a separate solo trip, Thomas visited the governor of Massachusetts and a school for special needs children in the Boston area. Recently, he pressed his causes at the San Diego mayor’s office.

He is headed to UC Santa Cruz this fall. He plans on a political career.

Dr. Ohno-Machado is still marveling at how a strong interest can reveal itself so suddenly in one’s offspring.

“He’s very excited about it,” she said. “He has a bright future.”