Sanofi Genzyme, the specialty care global business unit of Sanofi, has announced the start of a phase 2 trial of an investigational oral therapy for patients with Parkinson’s disease who carry a single copy of a gene mutation that is the most common genetic risk factor for the disease. The trial will assess the drug’s dynamics, efficacy and safety. This is the first industry-sponsored phase 2 clinical trial in a genetically defined population of Parkinson’s disease.

Parkinson’s disease is a chronic, degenerative neurological disorder affecting an estimated one million people in the United States and more than five million people worldwide.1 An estimated 5 – 10 per cent of Parkinson’s disease patients carry a mutation of the glucocerebrosidase (GBA) gene that allows lipids called glycosphingolipids to build up in cells. The molecule being studied, GZ/SAR402671, reduces the production of glycosphingolipids.

“Patients with Parkinson’s disease and a GBA gene mutation are predisposed to develop motor symptoms at a younger age, have a higher prevalence of cognitive impairment and undergo more rapid disease progression,” explains Anthony Schapira, MD, DSc, FRCP, FMedSci, Head of Department of Clinical Neurosciences, UCL Institute of Neurology and Lead Principal Investigator for the study. “Investigating a targeted therapy for these patients is an important first step in addressing the serious unmet needs these patients and their families face in managing Parkinson’s disease.”

The clinical trial, known as MOVES-PD, will be run in two phases: a dose escalation study followed by a study of efficacy and safety. The randomized, double blind study will enroll more than 200 patients at trial sites around the world. The primary endpoint of the study is the change in score from baseline in a scale commonly used to measure Parkinson’s disease progression known as the Movement Disorder Society Unified Parkinson's Disease Rating Scale Part II and III. This includes self-evaluation of daily life activities and motor experience, and a clinician-scored motor evaluation.

“We are excited to be able to bring the results of our many years of research in GBA gene mutations to a new therapeutic area with the potential to benefit patients with Parkinson’s disease,” said Tanya Fischer, MD, PhD, Global Project Head of Early Development for Parkinson’s Disease and Movement Disorders, Sanofi R&D. “We look forward to evaluating whether this molecule, which has been shown to cross into the brain in preclinical studies, may positively impact the devastating neurologic effects of this disease.”

Sanofi has studied GBA gene mutations for more than 30 years. People with GBA mutations in both copies of the gene, as opposed to a single mutation in GBA Parkinson’s disease, have Gaucher disease. Gaucher disease is a rare genetic disorder in which the buildup of a lipid in the cells leads to a broad spectrum of systemic manifestations including bruising, fatigue, anemia, low blood platelets, bone and joint pain, enlargement of liver and spleen, as well as neurological manifestations such as seizures and incoordination in severe forms.

Sanofi Genzyme introduced the world’s first treatment for Gaucher disease and Sanofi R&D remains committed to developing treatments for conditions associated with GBA mutations, including Gaucher disease and Parkinson’s disease.