Rare Disease News - BioPharma Global

Phase 3 Trial Evaluating Voxelotor for Sickle Cell Disease Boasts Positive Top-Line Data

July 5, 2018

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Positive top-line data from Part A of Global Blood Therapeutics, Inc.’s phase 3 HOPE (Hemoglobin Oxygen Affinity Modulation to Inhibit HbS PolymErization) trial evaluating voxelotor for the treatment of sickle cell disease (SCD) has been released. A statistically significant increase in hemoglobin was demonstrated in those who received voxelotor in either 1500 mg or 900 mg doses after 12 weeks of treatment compared with placebo. Voxelotor (previously known as GBT440) is a developmental, once-daily, oral therapy for SCD patients that works by increasing hemoglobin’s affinity for oxygen. Since oxygenated sickle hemoglobin fails to polymerize, the company postulates that voxelotor blocks polymerization, and consequently, the sickling of red blood cells that often results from that process.

“Given the well-established association between chronic hemolytic anemia and SCD-related morbidity and mortality, we believe the clinically meaningful increase in hemoglobin and improvement in hemolysis together with the safety profile demonstrated in Part A are highly encouraging,” shared Ted W. Love, MD, president and chief executive officer of GBT, in a recent statement.

For Part A of the phase 3 HOPE trial, investigators sought to assess the safety and efficacy of 154 patients with the primary endpoint being a greater than 1 g/dL increase in hemoglobin versus baseline. They found that 58% of those receiving the 1,500 mg dose (p<0.0001) were able to achieve a greater than 1 g/dL increase in hemoglobin at 12 weeks; this was true for 38% of patients who received the 900 mg dose of the drug (p=0.0021). Only 9% of patients who received the placebo were able to achieve this.

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Working on a cure for a rare disease? Need Breakthrough Therapy designation, Fast Track Designation, RMAT Designation, FDA or EMA Orphan Designations? The BioPharma Global Regulatory Team can help – We are the #1 US based not-for-profit Global regulatory affairs firm with cost-effective, time-efficient solutions to chaperone your path through the regulatory affairs process. Contact us at https://biopharmaglobal.com/contact/ or by phone +1(202)660-1826

Late-Stage ALS Survival Prolonged with Riluzole

July 4, 2018

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New findings suggest that riluzole prolongs survival in the final clinical stage of amyotrophic lateral sclerosis (ALS). It was previously understood that riluzole prolonged survival, but now researchers from the United Kingdom have pinpointed which stage this lengthening occurs. The range of survival length with ALS is wide; in fact, according to the researchers, it can be as long as 20 years. Typically, medial survival from symptom onset is about 27.5 months for ith spinal bulbar onset or 35.9 months for those with spinal onset. By clarifying the disease into stages, studying the disease can be more functional, according to the study authors. They used King’s clinical staging system in this analysis, which was derived from standard clinical observations.

Previous literature determined that 100 mg riluzole was linked with a 35% reduction in mortality in a clinical trial. However, the investigators wanted to track which stage of ALS this effect took place: early stage of the disease, late stage, or spread throughout the course of the disease. To do so, the researchers retrospectively studied the 959 original trial patients who had probable or definite ALS defined by the El Escorial criteria within a time period ranging from December 1992 to November 1993. The patients were spread throughout Europe and North America.

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Rafael Pharmaceuticals Receives FDA Orphan Drug Designation for Treatment of Burkitt Lymphoma, and Initiates a Phase II Clinical Trial of CPI-613 for Patients with Relapsed or Refractory Burkitt Lymphoma/Leukemia

July 3, 2018

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Newark, NJ, June 28, 2018 (GLOBE NEWSWIRE) — Rafael Pharmaceuticals, Inc., a leader in the growing field of cancer metabolism-based therapeutics, today announced that the U.S. Food and Drug Administration (FDA) has granted orphan drug designation to CPI-613, the Company’s lead Altered Energy Metabolism Directed (AEMD) drug candidate, for the treatment of Burkitt Lymphoma (BL). BL is a highly aggressive hematologic B-cell malignancy classically characterized by the overexpression of c-Myc. Due to the rapid proliferation rate of these tumors, the mainstay of treatment includes aggressive chemotherapy and immunotherapy. As per NCCN guideline, there is no definitive second-line therapy for BL (NCCN Guideline, version 4.2018). There is a clear unmet medical need for additional treatment options for these patients.

CPI-613 is a novel lipoic acid analogue with an anticancer activity that inhibits multiple enzyme targets within the tricarboxylic acid cycle. In a phase I clinical study of CPI-613 in patients with advanced hematological malignancies (CL-CPI-613-009), a 19-year-old female with relapsed BL was treated with CPI-613 monotherapy. After second relapse to the prior therapy, the patient was enrolled in CL-CPI-613-009 and received CPI-613 monotherapy (2,940 mg/m²). The patient received 17 total cycles of therapy over 51 weeks, and achieved and maintained radiographic Partial Response (PR) status after the third cycle. The treatment was well tolerated. After 17 cycles, the patient decided to discontinue treatment and pursue a surgical resection of residual tumor. The pathology of the surgical specimen revealed BL with extensive necrosis. Clinical follow-up on the patient indicated no evidence of disease more than 36 months later.

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Working on a cure for a rare disease? Need Breakthrough Therapy designation, Fast Track Designation, RMAT Designation, FDA or EMA Orphan Designations? The BioPharma Global Regulatory Team can help – We are the #1 US based not-for-profit Global regulatory affairs firm with cost-effective, time-efficient solutions to chaperone your path through the regulatory affairs process. Contact us at https://biopharmaglobal.com/contact/ or by phone +1(202)660-1826

Microdystrophin Gene Therapy Shows Promising Interim Results in Phase 1/2 Trial

July 2, 2018

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Microdystrophin gene therapy robustly induces the production of a shorter, but functional, version of the dystrophin protein and reduces muscle damage in Duchenne muscular dystrophy (DMD) patients, according to preliminary results of a Phase 1/2 clinical trial. DMD is a severe type of muscular dystrophy caused by mutations in the dystrophin gene. This leads to the absence of the dystrophin protein, a critical protein involved in the stability and function of muscle fibers. Without the protein, there is progressive muscle degeneration and weakness.

Researchers have been working to develop gene therapies to replace the dystrophin gene, with the goal of protecting the muscle from damage and/or promoting muscle repair. Among these developing therapies, AAVrh74.MHCK7.micro-Dystrophin — developed by a team at Nationwide Children’s Hospital and licensed by Sarepta Therapeutics — is one of the most advanced. This therapy uses a virus (the adeno-associated virus, or AAV) to deliver microdystrophin, a shorter version of the dystrophin gene, that contains the minimum amount of information needed to produce a functional dystrophin protein.

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Penn Study Reveals Secrets of ‘Hot’ and ‘Cold’ Pancreatic Cancer Tumors

July 1, 2018

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PHILADELPHIA – So-called “hot” tumors filled with T cells are often considered to be more sensitive to immunotherapy compared to “cold” tumors with fewer T cells, but a clear demonstration of why has eluded cancer biologists–until now. A team from Penn Medicine’s Abramson Cancer Center (ACC) discovered that whether a tumor is hot or cold is determined by information embedded in the cancer cells themselves. In a new study published in Immunity, researchers probe the role of “tumor heterogeneity,” a cancer cells’ ability to move, replicate, metastasize, and respond to treatment. These new findings could help oncologists more precisely tailor treatments to a patient’s unique tumor composition.

Recent studies from Penn Medicine and other institutions have suggested that the degree to which T cells are attracted to a tumor is regulated by genes specific to that tumor. “There is no disputing that targeting immune cells has led to promising outcomes for many cancer patients, but not every person responds to these types of treatments,” said senior author Ben Stanger, MD, PhD, a professor of Gastroenterology and Cell and Developmental Biology in the Perelman School of Medicine at the University of Pennsylvania. “Every tumor is different, so we’re investigating how to use the underlying biology of tumor cells to successfully treat more cancer patients.” Stanger is also director of the ACCPancreatic Cancer Research Center.

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Lin BioScience Receives EMA Orphan Drug Status for LBS-008 for the Treatment of Stargardt Disease

June 30, 2018

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SAN DIEGO, CA – Lin BioScience, a drug development company targeting untreatable conditions in oncology, ophthalmology and metabolic diseases, announced today that the European Medicines Agency has granted orphan drug designation to LBS-008, a first-in-class oral therapy for the treatment of Stargardt Disease. Stargardt Disease is currently an untreatable inherited condition that causes permanent vision loss in children during childhood and adolescence. It is the most common form of juvenile macular degeneration with an incidence of 1.3 in 10,000 births in the European Union. The disease is caused by a mutation in the ABCA4 gene, which leads to the accelerated formation and accumulation of toxic vitamin A dimers in the retina that cause progressive retinal cell death and permanent loss of vision.

“Adding orphan designation in Europe to the recent orphan drug designation in the United States marks another important regulatory milestone in the development program for LBS-008,” stated Dr. Tom Lin, CEO of Lin Bioscience. “We look forward to receiving our interim Phase I clinical trial results later this year.”

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Revive Therapeutics Announces FDA Grants Orphan Drug Designation for Cannabidiol in the Treatment of Autoimmune Hepatitis

June 29, 2018

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TORONTO, Canada – Revive Therapeutics Ltd. (TSX VENTURE:RVV) (OTCQB:RVVTF) (FSE:31R) (“Revive” or the “Company”), a company focused on the research, development and commercialization of novel cannabinoid-based therapies, announced that the U.S. Food and Drug Administration (“FDA”) has granted orphan drug designation for cannabidiol (“CBD”) in the treatment of autoimmune hepatitis (“AIH”) to Revive.

“We are very pleased to receive orphan drug designation for CBD in the treatment of AIH from the FDA as it allows us to confidently advance our research and development plans with our strategic collaboration partner WeedMD Inc.,” said Fabio Chianelli, President of Revive. “This milestone builds on Revive’s pharmaceutical strategy in developing novel cannabinoid therapies targeting both broad and rare inflammatory and liver diseases and it supports our near-term product and business development strategy in commercializing novel cannabis-based therapies and potential partnering opportunities with licensed producers of cannabis and pharmaceutical companies. We are excited about the long-term potential of plant-derived cannabinoid prescription medicines, which we believe has been validated by the FDA approval of the GW Pharmaceuticals plc EPIDIOLEX® (cannabidiol) oral solution for the treatment of seizures associated with Lennox-Gastaut syndrome or Dravet syndrome in patients two years of age or older.”

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Scientists Discover How Antiviral Gene Works

June 28, 2018

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BRONX, NY – It’s been known for years that humans and other mammals possess an antiviral gene called RSAD2 that prevents a remarkable range of viruses from multiplying. Now, researchers at Albert Einstein College of Medicine, part of Montefiore, have discovered the secret to the gene’s success: The enzyme it codes for generates a compound that stops viruses from replicating. The newly discovered compound, described in a recent online edition of Nature, offers a novel approach for attacking many disease-causing viruses.

“Nature has given us a template for creating a powerful and safe antiviral compound,” says study leader Steven C. Almo, Ph.D., professor and chair of biochemistry, professor of physiology & biophysics and the Wollowick Family Foundation Chair in Multiple Sclerosis and Immunology at Einstein. Dr. Almo and his colleagues at Einstein and Pennsylvania State University found that the compound, called ddhCTP, disrupts the replication machinery of Zika virus. The next step is to test the compound against a broad array of viruses.

Dr. Almo predicts that modifications to ddhCTP could make it even more potent. Furthermore, he says, “drugs based on this compound may have a favorable safety profile. We’ve been living with ddhCTP for many millions of years and long ago developed mechanisms to prevent it from interfering with the replication of our own cells.” Tyler Grove, Ph.D., a research assistant professor in Dr. Almo’s lab, and Anthony Gizzi, who received his Ph.D. from Einstein in May, are co-lead authors on the study.

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Samus Therapeutics Announces PU-H71 Granted Orphan Drug Designation and First Patient Dosed in Phase 1b Study in Myelofibrosis

June 27, 2018

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/PRNewswire/ — Samus Therapeutics, Inc. (“Samus” or the “Company”), a privately held Boston-based biopharmaceutical company developing novel therapeutics and biomarkers targeting the epichaperome, today announced that the U.S. Food and Drug Administration (FDA) has granted orphan drug designation to PU-H71 for the treatment of myelofibrosis. The Company also announced today that it has dosed the first patient in a Phase 1b dose-escalation study of PU-H71 in patients with myelofibrosis.

PU-H71, along with PU-AD, are novel therapeutics that, with high specificity, target the epichaperome, a foundational protein complex present in multiple disease states, including cancer and neurological disorders. Under conditions of abnormal stress, cells become biochemically ‘rewired’ to form a network of high-molecular-weight complexes known as epichaperomes. In cancer, these can function as a network to enhance cellular survival, irrespective of tissue of origin or genetic background. PU-H71 specifically targets the epichaperome, present in over half of all cancers tested by Samus and the Chiosis group at Memorial Sloan Kettering Cancer Center, to precisely interfere with the epichaperome function in diseased cells and to not affect normal cells. (Nature Reviews Cancer, 2018, doi:10.1038/s41568-018-0020-9; Nature, 538, 397-401, 2016).

PU-H71 is now being studied in Phase 1b combination trials in myelofibrosis and advanced metastatic breast cancer. A second compound, PU-AD, which targets the epichaperome in neurodegenerative diseases, is being developed for the treatment of Alzheimer’s disease (AD), with a Phase 0 PU-AD PET/SPECT biomarker brain imaging study currently ongoing and a Phase 1 therapeutics study expected to initiate later this year in an AD program.

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New Funding Opportunities Available for Collaborative Rare Diseases Research

June 26, 2018

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On June 11, 2018, NCATS announced two new Rare Diseases Clinical Research Network (RDCRN) program funding opportunities to support collaborative clinical research on rare diseases. The Center is accepting applications for Rare Diseases Clinical Research Consortia and a Data Management and Coordinating Center (DMCC); both funding opportunities have a deadline of Oct. 9, 2018.

The RDCRN is intended to advance the diagnosis, management and treatment of rare diseases with a focus on clinical trial readiness. Each consortium will promote highly collaborative, multi-site, patient-centric, translational and clinical research with the intent of addressing unmet clinical trial readiness needs.

Approximately 7,000 rare diseases affect an estimated 25 million — approximately one in 10 — Americans, but only a few hundred of these diseases have an approved treatment. Through the RDCRN, physicians, scientists, and their multidisciplinary teams work together with patients and patient advocacy groups to study more than 200 rare diseases at sites across the nation.

“The RDCRN is uniquely positioned to foster important clinical research advances and bridge translational gaps in the understanding and treatment of rare diseases,” said Anne Pariser, M.D., director of the NCATS Office of Rare Diseases Research, which oversees the RDCRN.

To Read the Complete Article at NIH.gov, Click Here