In the News
- Dr. Cudkowicz presented the Leonard Gerson Distinguished Scholar lecture 1/9/2013. Merit Cudkowicz, MD the leading ALS clinical investigator in the US, award-winning ALS clinician, and Julieanne Dorn Professor of Neurology at Harvard Medical School and Chairperson of the Neurology Department at the Massachusetts General Hospital received the second Leonard Gerson Distinguished Scholar Award. The Award was established in 2011 by Sandy Gerson Snyder in memory of her father Leonard Gerson who passed away from ALS at age 70. The award supports educational programs for faculty and staff at the University of Pittsburgh School of Medicine as well as the community at large, with the goal of broadening horizons and pushing the boundaries of knowledge as scientists, physicians, and patients work together in the fight against ALS. Dr. Robert Ferrante, PhD, MD, Co-Director of the Center for ALS research received the first award in 2011.
- Dexpramipexole found to be ineffective. Early in January, we received the disappointing news that dexpramipexole showed no benefit in survival, function, or other measures in ALS subjects vs. subjects on placebo. Development of the drug for ALS has been discontinued. There was a risk of neutropenia (low white blood cells). Although the results are disheartening, much more was learned about ALS and clinical trial design. We greatly appreciate the participation or our patients who were in the study and the support that was provided by their families.
- Ceftriaxone study concludes in disappointment. In July 2012, the Data and Safety Monitoring Board for the NINDS-sponsored clinical trial of ceftriaxone in ALS recommended that based on existing data the trial be stopped because the study was unlikely to reach the pre-detrmined efficacy criteria. The NINDS leadership concurred. Pre-clinical research identified ceftriaxone as a promising treatment for ALS therefore it was important for people with ALS to find out if the drug could be beneficial in ameliorating the disease. The study used a novel seamless adaptive design. Final analysis and presentation of the results will occur after completion of site monitoring and database lock. The important contributions of patients, their families and the hard work of the investigators and their teams made it possible to implement the trial. While all had hoped for a more positive result, the trial has moved ALS research forward. (reproduced from NEALS [Northeast ALS Consortium]). We sincerely thank our patients who participated in this study!
- Caregiver Support and Stress project moves along. Kristen Qutub, a Department of Human Genetics master’s degree student, is working with faculty members from the Center of ALS Research to recruit caregivers of ALS patients seeing in the ALS Clinic into a research project designed to identify factors predisposing to caregiver stress. We recognize that caregiver stress is substantial and that interventions need to be designed to help caregivers.
- New Center initiatives: High Field MRI and Growing Stem Cells.
High definition fiber tracking studies. We do not fully understand the progression of the loss of motor neurons and their tracks (pathways) in brain and spinal cord areas in ALS. Greater knowledge of these events will allow us to predict events and provide better clinical care for ALS patients and potentially to help slow the disease progression. Using high field magnetic resonance imaging (MRI), we can track the fibers in these pathways in ALS patients over time and understand what areas are effected earliest and how the disease spreads. Doing these studies in the spinal cord is a new undertaking.
Novel stem cells studies. Studying rat and mouse models of ALS has not predicted which drugs will be successful in humans. We propose new studies of HUMAN motor neurons derived from individuals with ALS by taking skin cells (called pleuripotent stem cells) obtained by simple skin biopsy and then turning these skin cells into motor neurons and supportive glial cells that are similar to those found in human spinal cord. This process takes months. The biology of the cells should tell us about disease mechanisms and why some patients with longer. They will also provide a foundation for testing drugs to predict which ones should move forward and be tested in patients.
- Thanks to Donors: Helen Popovich Fund, Jon Obusek Memorial Bike Run, and others
- New Gene Discoveries. Scientists identify another protein, ubiquilin, that accumulates abnormally in motor neurons in sporadic and familial ALS. Investigators hope that this discovery will lead to therapies that act on this protein pathway, but there are no immediate implications to patient care. The recent description of a large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72 on chromosome 9p was an exciting development in ALS research. This mutation is associated with up to 40% of cases of familial ALS (fALS). In some families, children developed onset of symptoms 7 years earlier than their parents. Either frontotemporal dementia (FTD) or motor neuron disease (MND) occurs in families. Some patients had psychosis with prominent delusions and hallucinations. It is still not certain as to how the C9ORF72 mutation causes motor neuron degeneration. (Click here for review of the literature on this topic)
- What else is new in ALS