Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study.

Background: Vosoritide is a C-type natriuretic peptide analog that addresses an underlying pathway causing reduced bone growth in achondroplasia. Understanding the vosoritide treatment effect requires evaluation over an extended duration and comparison with outcomes in untreated children.

Methods: After completing ≥6 months of a baseline observational growth study and 52 weeks in a double-blind, placebo-controlled study (ClinicalTrials.

Factors associated with discussing high blood pressure readings in clinical notes.

Background: Blood pressure (BP) is routinely measured and recorded at healthcare visits, but high BP (HBP) measurements are not always discussed in clinical notes. Our objective was to identify patient- and visit-level factors associated with discussion of HBP measurements in clinical notes, among patients without prior diagnosis of hypertension.

Methods: Data from 2016-2022 for all patients with any BP record of 140/90 mmHg or greater were obtained from University of Iowa Hospitals and Clinics electronic medical records.

Reprint of: Impact of outpatient pharmacist dispensing in an opioid use disorder clinic.

Background: Medications for opioid use disorder are effective in reducing opioid deaths, but access can be an issue. Relocating an outpatient pharmacist for weekly buprenorphine dispensing in an outpatient clinic may facilitate coverage for buprenorphine and mitigate access and counseling barriers.

Objectives: This study aimed to evaluate whether staffing an outpatient resident pharmacist to dispense in the buprenorphine clinic had a positive impact on (1) mean cost per prescription charged to charity care and (2) basic elements of patient satisfaction with the on-site pharmacist.

Anakinra in Sanfilippo syndrome: a phase 1/2 trial.

Sanfilippo syndrome is a fatal childhood neurodegenerative disorder involving neuroinflammation among multiple pathologies. We hypothesized that anakinra, a recombinant interleukin-1 receptor antagonist, could improve neurobehavioral and functional symptoms owing to its capacity to treat neuroinflammation. This phase 1/2 trial aimed to test the safety, tolerability and effects of anakinra on neurobehavioral, functional and quality-of-life outcomes in patients and their caregivers.

Using a Fitbit-based Walking Game to Improve Physical Activity Among U.S. Veterans.

Introduction: Physical inactivity, hereafter inactivity, is a serious health problem among U.S. veterans, hereafter veterans.

Patient-Reported Outcomes in Autosomal Dominant Osteopetrosis: Findings from the Osteopetrosis Registry Study.

Context: Autosomal dominant osteopetrosis (ADO) is a rare sclerotic bone disease characterized by impaired osteoclast activity, resulting in high bone mineral density and skeletal fragility. The full phenotype and disease burden on patients' daily lives has not been systematically measured.

Objective: We developed an online registry to ascertain population-based data on the spectrum and rate of progression of disease and to identify relevant patient centered outcomes that could be used to measure treatment effects and guide the design of future clinical trials.

Impact of outpatient pharmacist dispensing in an opioid use disorder clinic.

Background: Medications for opioid use disorder are effective in reducing opioid deaths, but access can be an issue. Relocating an outpatient pharmacist for weekly buprenorphine dispensing in an outpatient clinic may facilitate coverage for buprenorphine and mitigate access and counseling barriers.

Objectives: This study aimed to evaluate whether staffing an outpatient resident pharmacist to dispense in the buprenorphine clinic had a positive impact on (1) mean cost per prescription charged to charity care and (2) basic elements of patient satisfaction with the on-site pharmacist.

Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene.

Context: Autosomal dominant osteopetrosis (ADO) is a rare genetic disorder resulting from impaired osteoclastic bone resorption. Clinical manifestations frequently include fractures, osteonecrosis (particularly of the jaw or maxilla), osteomyelitis, blindness, and/or bone marrow failure. ADO usually results from heterozygous missense variants in the Chloride Channel 7 gene (CLCN7) that cause disease by a dominant negative mechanism.

Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.

Background: Vosoritide is a recombinant C-type natriuretic peptide analogue that increases annualised growth velocity in children with achondroplasia aged 5-18 years. We aimed to assess the safety and efficacy of vosoritide in infants and children younger than 5 years.

Methods: This double-blind, randomised, placebo-controlled, phase 2 trial was done in 16 hospitals across Australia, Japan, the UK, and the USA.

Association between household opioid prescriptions and risk for overdose among family members not prescribed opioids.

Background: Prescription opioids have contributed to the rise in opioid-related overdoses and deaths. The presence of opioids within households may increase the risk of overdose among family members who were not prescribed an opioid themselves. Larger quantities of opioids may further increase risk.

Generalized pairwise comparisons of prioritized outcomes are a powerful and patient-centric analysis of multi-domain scores.

Background: Generalized pairwise comparisons (GPC) can be used to assess the net benefit of new treatments for rare diseases. We show the potential of GPC through simulations based on data from a natural history study in mucopolysaccharidosis type IIIA (MPS IIIA).

Methods: Using data from a historical series of untreated children with MPS IIIA aged 2 to 9 years at the time of enrolment and followed for 2 years, we performed simulations to assess the operating characteristics of GPC to detect potential (simulated) treatment effects on a multi-domain symptom assessment.

Predicting use of a gait-stabilizing device using a Wii Balance Board.

Gait-stabilizing devices (GSDs) are effective at preventing falls, but people are often reluctant to use them until after experiencing a fall. Inexpensive, convenient, and effective methods for predicting which patients need GSDs could help improve adoption. The purpose of this study was to determine if a Wii Balance Board (WBB) can be used to determine whether or not patients use a GSD.

Team-based home blood pressure monitoring for blood pressure equity a protocol for a stepped wedge cluster randomized trial.

Background: Home Blood Pressure Monitoring (HBPM) that includes a team with a clinical pharmacist is an evidence-based intervention that improves blood pressure (BP). Yet, strategies for promoting its adoption in primary care are lacking. We developed potentially feasible and sustainable implementation strategies to improve hypertension control and BP equity.

Hurler Syndrome Glycosaminoglycans Decrease in Cerebrospinal Fluid without Brain-Targeted Therapy.

Novel therapies for Hurler syndrome aim to cross the blood-brain barrier (BBB) to target neurodegeneration by degrading glycosaminoglycans (GAG). BBB penetration has been assumed with decreased cerebrospinal fluid (CSF) GAG, yet little is known about CSF GAG without brain-targeting therapies. We compared pre-transplant CSF GAG in patients who were treatment naïve (n = 19) versus receiving standard non-BBB penetrating enzyme replacement therapy (ERT, n = 12).

Autosomal dominant osteopetrosis.

Autosomal dominant osteopetrosis (ADO) is the most common form of osteopetrosis. ADO is characterized by generalized osteosclerosis along with characteristic radiographic features such as a "bone-in-bone" appearance of long bones and sclerosis of the superior and inferior vertebral body endplates. Generalized osteosclerosis in ADO typically results from abnormalities in osteoclast function, due most commonly to mutations in the chloride channel 7 (CLCN7) gene.

Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10-year prospective study.

The mucopolysaccharidosis (MPS) disorders have many potential new therapies on the horizon. Thus, historic control data on disease progression and variability are urgently needed. We conducted a 10-year prospective observational study of 55 children with MPS IH (N = 23), MPS IA (N = 10), non-neuronopathic MPS II (N = 13), and MPS VI (N = 9) to systematically evaluate bone and joint disease.

Hepatitis C screening in a community pharmacy setting: Patient perspective.

Background: Hepatitis C virus (HCV) is an infection of the liver, which contributes to over 15,000 deaths in the United States annually. When treated, HCV has a 90% or greater cure rate, however testing for HCV remains low.

Objectives: To assess patient perspectives on HCV screenings in the community pharmacy setting including awareness of screening, willingness to be screened, barriers to screening, and willingness to pay for HCV screening.

Association of Appendicitis Incidence With Warmer Weather Independent of Season.

Importance: Acute appendicitis is a common cause of abdominal pain and the most common reason for emergency surgery in several countries. Increased cases during summer months have been reported.

Objective: To investigate the incidence of acute appendicitis by considering local temperature patterns in geographic regions with different climate over several years.

Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.

Purpose: This study was undertaken to collect baseline growth parameters in children with achondroplasia who might enroll in interventional trials of vosoritide, and to establish a historical control.

Methods: In this prospective, observational study, participants (≤17 years) underwent a detailed medical history and physical examination and were followed every 3 months until they finished participating in the study by enrolling in an interventional trial or withdrawing.

Results: A total of 363 children were enrolled (28 centers, 8 countries).