First gene therapy treatment to stave off childhood degenerative brain disease wins national clinical excellence award


Washington, D.C. – April 18, 2018 – The Clinical Research (CR) Forum, a non-profit membership association of top clinical research experts and thought leaders from the nation's leading academic health centers, today awarded its most prestigious honor to a Massachusetts General Hospital research team for its discovery of the first successful gene therapy treatment for a fatal brain disease, cerebral adrenoleukodystrophy (ALD). The CR Forum presents its annual Top Ten Clinical Research Achievement Awards to highlight outstanding research advances that involve both innovation and impact on human diseases. A complete list of the 2018 Top Ten Award Winners can be found at:

"This year's award winners demonstrate the immense value of our nation's investment in clinical research, and the direct impact of that work on the health of millions of people in the United States," said Harry P. Selker, MD, MSPH, CR Forum Board Chair and Dean of the Clinical and Translational Science Institute at Tufts University. "For many, these innovative studies and related clinical trials may represent the only hope for surviving a life-threatening disease. They also pave the way to advance new therapies and treatments that improve public health."

The Herbert Pardes Clinical Research Excellence Award, named in honor of CR Forum Board Vice Chair Dr. Herbert Pardes for his profound impact on clinical research and academic medicine, is awarded to the research study that best shows a high degree of innovation and creativity, advances science, and has an impact upon human disease.

The study, Gene Therapy Halts Progression of Cerebral ALD, is this year's honoree for the Herbert Pardes Clinical Research Excellence Award, the CR Forum's highest honor. (Dr. Pardes currently serves as Vice Chairman of the Board of Trustees at New York-Presbyterian Hospital and was the long-time Dean of the Faculty of Medicine at the College of Physicians & Surgeons of Columbia University.)

Led by Florian Eichler, MD, from Harvard Medical School and Massachusetts General Hospital, the study tested the first successful gene therapy treatment for cerebral adrenoleukodystrophy (ALD), a fatal degenerative brain disease that most severely affects boys. The genetic disease – depicted in the 1992 movie "Lorenzo's Oil" – causes nerve cells in the brain to die, and children with the disease lose the ability to walk or talk and die within a few years. Using a disabled form of HIV to deliver the gene therapy, researchers were able to halt the progression of the disease in 15 out of 17 boys who participated in the clinical trial. Researchers have been closely monitoring the children, who now have minimal or no symptoms and are leading normal lives two years later. The study opens the door not only for treating ALD, but also other neurological diseases.

Two additional studies received Distinguished Clinical Research Achievement Awards today at a ceremony in Washington, D.C. for their creativity, innovation, and novel approach that demonstrates immediate impact on the health and well-being of patients:

  • A study finding that, for patients with painful knee osteoarthritis with inflammation, repeated cortisone injections into the knee over a two year period do not improve symptoms and are associated with more cartilage damage. The research ("Effect of Intra-articular Triamcinolone vs Saline on Knee Cartilage Volume and Pain") was led by Timothy McAlindon, DM, MPH, of Tufts Medical Center. Although the cartilage loss was not associated with worsening of symptom outcomes in the study itself, the finding is concerning because research has shown that faster cartilage loss is associated with higher rates of future knee joint replacement. The findings raise the question of whether injections are implicated in what appear to be more than 600,000 knee replacements that may be performed absent demonstrated need each year in the United States.
  • The first gene-replacement therapy for infants with spinal muscular atrophy type 1 (SMA1), a devastating childhood neuromuscular disease ("Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy"). This work was led by Jerry Mendell, MD, from the Nationwide Children's Hospital, in collaboration with researchers from The Ohio State University. Researchers found that all 15 children with SMA1 treated with the gene therapy were functioning without any major disability or progression of their disease. Without treatment, SMA1 gradually paralyzes babies until they die or require permanent breathing assistance by two years of age. The Food and Drug Administration has fast-tracked the gene therapy through the regulatory process, as it holds promise for treatments for other thousands of children diagnosed with any number of neuromuscular diseases.


Since it was founded in 1996, the Clinical Research Forum has enabled the sharing of best practices in clinical research, informed meaningful policy dialogues and increasingly played a national advocacy role in support of clinical research.

Past Clinical Research Forum award-winning studies have made a profound impact nationally and internationally, including: a dramatic change in the US guideline on the management of high blood pressure that could result in saving 30,000 lives each year; a breakthrough in the treatment of advanced prostate cancer; and, a shift in best practices for breast cancer surgeries that could reduce repeat surgeries by 50 percent.

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