A5091247382- Porphyrin Metabolism and Disorders
- Heme Oxygenase-1 and Carbon Monoxide
- Neonatal Health and Biochemistry
- Folate and B Vitamins Research
- Multiple Sclerosis Research Studies
- Health Systems, Economic Evaluations, Quality of Life
- Pharmaceutical Economics and Policy
- Medication Adherence and Compliance
- Metabolism and Genetic Disorders
- Alcoholism and Thiamine Deficiency
- Pancreatic and Hepatic Oncology Research
- Cystic Fibrosis Research Advances
- Methemoglobinemia and Tumor Lysis Syndrome
- Pharmaceutical studies and practices
- Gastrointestinal Tumor Research and Treatment
- Rheumatoid Arthritis Research and Therapies
- Cardiac Imaging and Diagnostics
- Cutaneous Melanoma Detection and Management
- Pharmaceutical industry and healthcare
- Intracerebral and Subarachnoid Hemorrhage Research
- Adolescent and Pediatric Healthcare
- Advanced X-ray and CT Imaging
- Moyamoya disease diagnosis and treatment
- Healthcare cost, quality, practices
- Peripheral Neuropathies and Disorders
Valley Hospital Medical Center
2023-2024
Alnylam Pharmaceuticals (United States)
2018-2022
Touro University Nevada
2022
Konkuk University
2021
Ipsos (United States)
2020
Université Paris Cité
2019
Novartis (United States)
2015-2017
Harbor–UCLA Medical Center
2000
Up-regulation of hepatic delta-aminolevulinic acid synthase 1 (ALAS1), with resultant accumulation (ALA) and porphobilinogen, is central to the pathogenesis acute attacks chronic symptoms in porphyria. Givosiran, an RNA interference therapy, inhibits ALAS1 expression.In this double-blind, placebo-controlled, phase 3 trial, we randomly assigned symptomatic patients porphyria receive either subcutaneous givosiran (2.5 mg per kilogram body weight) or placebo monthly for 6 months. The primary...
Background and Aims Acute hepatic porphyria comprises a group of rare genetic diseases caused by mutations in genes involved heme biosynthesis. Patients can experience acute neurovisceral attacks, debilitating chronic symptoms, long‐term complications. There is lack multinational, prospective data characterizing the disease current treatment practices severely affected patients. Approach Results EXPLORE prospective, natural history study activity clinical management patients with who...
BackgroundTo ensure the creation of treatments that maximize value at lowest cost, all aspects health care system need to align with patient needs and preferences. Despite growing efforts engage patients in research regulatory activities, pharmaceutical industry has yet involvement drug development process.ObjectiveTo gain a better understanding present state development.MethodsThrough semistructured interview methodology, we sought identify opportunities, barriers, examples process....
Upregulation of hepatic delta-aminolevulinic acid synthase 1 with accumulation potentially toxic heme precursors and porphobilinogen is fundamental to the pathogenesis acute porphyria.evaluate long-term efficacy safety givosiran in porphyria.Interim analysis ongoing ENVISION study (NCT03338816), after all active patients completed their Month 24 visit. Patients porphyria (≥12 years) recurrent attacks received (2.5 mg/kg monthly) (n = 48) or placebo 46) for 6 months (double-blind period); 93...
Disease-modifying therapies (DMTs) are indicated to reduce relapse rates and slow disease progression for relapsing-remitting multiple sclerosis (MS) patients when taken as prescribed. Nonadherence or non-persistence in the real-world setting can lead greater risk negative clinical outcomes. Although previous research has demonstrated adherence persistence oral DMTs compared with injectable DMTs, comparisons among lacking.To compare adherence, persistence, time discontinuation MS newly...
Formulary restrictions are implemented to reduce pharmacy costs and ensure appropriate use of pharmaceutical products. As adoption formulary increases with rising costs, there is a need better understand the potential effect on patient payer outcomes.To conduct systematic literature review that assesses following outcomes: medication adherence, clinical outcomes, treatment satisfaction, drug utilization, health care resource economic outcomes.Studies published in 2005 or later were...
Outcomes-based contracts (OBCs), a type of risk-sharing arrangement (RSA), have emerged as promising avenue for payers to engage with pharmaceutical manufacturers share risk and improve patient access medicines via evaluation real-world outcomes.To assess the level recent OBC activity stakeholder perceptions these arrangements, well outlook future from payer manufacturer perspective in United States EU-5 (France, Germany, Italy, Spain, Kingdom).Using structured questionnaire, interviews were...
In the United States, people with relapsing-remitting multiple sclerosis (RRMS) can face difficulty accessing disease-modifying therapies (DMTs) because of insurance, pharmacy, or provider policies. These barriers have been associated poor adherence and negative health outcomes.The goals this study were to describe overall occurrence difficulties delays gaining access DMTs among RRMS, assess DMT during periods reduced access, contextualize patients' journey from receipt a prescription for...
Background With the growing adoption of electronic health record (EHR) worldwide over last decade, new opportunities exist for leveraging EHR data detection rare diseases. Rare diseases are often not diagnosed or delayed in diagnosis by clinicians who encounter them infrequently. One such disease that may be amenable to EHR-based is acute hepatic porphyria (AHP). AHP consists a family rare, metabolic characterized potentially life-threatening attacks and chronic debilitating symptoms. The...
Acute hepatic porphyria (AHP) is a group of rare genetic diseases heme biosynthesis resulting in severe neurovisceral attacks and chronic complications that negatively impact patients' well-being. This study evaluated the impacts AHP on physical emotional health from global perspective. Adult patients United States, Italy, Spain, Australia, Mexico, Brazil with >1 attack within past 2 years or receiving intravenous hemin and/or glucose for prevention completed an online survey assessing...
BACKGROUND: An integrated health care system with its own regional plan located in Texas implemented a pharmacist-led diabetes medication management program (MMP) to treat type 2 diabetic patients (baseline A1c > 7.5%). The MMP formed collaborative practice agreements the system’s physicians allow ambulatory pharmacists modify and adjust drug regimens when appropriate. Enrolled received personalized visits copay waiver on medications. OBJECTIVE: To study outcomes of an outpatient, MMP, along...
Acute hepatic porphyria (AHP) is a family of rare metabolic diseases characterized by potentially life-threatening acute attacks and, in some patients, chronic debilitating symptoms. While patients with frequent or recurrent (three more annually) are known to have reduced health-related quality life (HRQoL) as most aspects daily living impacted, limited data exist sporadic attacks. This research aims identify porphyria-related symptoms between attacks, characterize the frequency, severity,...
Abstract Background This study used quantitative and qualitative research methods to analyze how acute hepatic porphyria (AHP) affects patients with varying annualized attack rates. The overall impact of AHP on caregivers, including their quality life, was explored. nature treatment attacks, experiences long-term heme arginate access other appropriate treatment, the extent for chronic symptoms were also investigated within this study. Methods Patient caregiver data collected via an online...
In the US, approved multiple sclerosis (MS) oral disease-modifying therapies (ODMTs) are fingolimod (FTY), teriflunomide (TFN), and dimethyl fumarate (DMF). FTY TFN recommended with once-daily doses no up-titration, whereas DMF treatment is twice-daily (BID) initiated a 7-day starter dose of 120 mg BID before up-titration to maintenance 240 BID. Limited information exists regarding real-world ODMT prescribing patterns aid physician/patient decision-making.Eligible patients for this...
INTRODUCTION: Acute Hepatic Porphyria (AHP) is a family of rare genetic diseases due to enzyme defects in heme synthesis the liver. Accumulation toxic intermediates ALA and PBG may result neurovisceral attacks chronic manifestations. Intravenous (IV) hemin approved treat acute sometimes used off-label prophylactically. In ENVISION study AHP patients, givosiran, an RNAi therapeutic, reduced composite porphyria annualized attack rate (AAR) vs. placebo (pbo). A post-hoc analysis was conducted...
Outcomes-based pricing and reimbursement arrangements (OPRAs), a type of performance-based risk-sharing (PBRS) arrangements, have emerged as promising avenue for payers to share pharmaceutical risk manufacturers improve access. The aim this study was explore the U.S. EU-5 perspectives regarding historical future activity OPRAs well payers’ manufacturers’ perceptions OPRAs. Our combined 2 approaches: targeted literature review primary research with stakeholders. included following sources:...
Abstract Background With the growing adoption of electronic health record (EHR) worldwide over last decade, new opportunities exist for leveraging EHR data detection rare diseases. Rare diseases are often not diagnosed or delayed in diagnosis by clinicians who encounter them infrequently. One such disease that may be amenable to EHR-based is acute hepatic porphyria (AHP). AHP consists a family rare, metabolic characterized potentially life-threatening attacks and, some patients, chronic...
A 10-year-old Schnauzer presented with a 1-month history of vomiting, anorexia, and abdominal pain, recently detected intra-abdominal mass. The round, soft-tissue opacity masses identified on the radiography in left mid-abdomen were confirmed as multifocal, cystic via ultrasonography. necrotic mimicked an neoplasia initial imaging examinations. computed tomography (CT) clearly showed encapsulated fluid arising from limb pancreas extending to peripancreatic, paracolic, perigastric regions....
INTRODUCTION: Acute hepatic porphyria (AHP) refers to a family of rare, genetic diseases caused by deficient activity enzymes involved in the heme biosynthesis pathway liver, with acute intermittent (AIP) being most common subtype. Accumulation neurotoxic intermediates may result potentially life-threatening attacks and chronic symptoms that negatively impact daily functioning quality life. Although AIP-related mutations are relatively (1:1,700), clinical penetrance disease is estimated...
INTRODUCTION: Acute hepatic porphyria (AHP) is a family of rare genetic diseases due to enzyme defects in heme biosynthesis. Induction 5-aminolevulinic acid synthase 1 (ALAS1), the rate-limiting step biosynthesis, can lead accumulation toxic intermediates (ALA) and porphobilinogen (PBG), causing neurovisceral attacks chronic manifestations. Givosiran, an investigational RNAi therapeutic, targets liver ALAS1 reduce ALA/PBG ameliorate clinical METHODS: ENVISION (NCT03338816) ongoing Phase 3...