Patient- and Caregiver-Reported Impact of Symptoms in Alzheimer Disease, Mild Cognitive Impairment, and Dementia.

Background And Objectives: In preparation for future clinical trials involving individuals with Alzheimer disease (AD), mild cognitive impairment (MCI), and dementia, it is important to ascertain the widespread impact of symptoms from the direct perspectives of patients and caregivers. In this study, we performed cross-sectional surveys using large-scale patient and caregiver data to identify the prevalence and average impact of symptoms and symptomatic themes experienced by adults with AD, MCI, and dementia. Subsequent analyses were used to determine which demographic and disease-specific factors are associated with more severe disease.

Friedreich Ataxia Caregiver-Reported Health Index: Development of a Novel, Disease-Specific Caregiver-Reported Outcome Measure.

Background And Objectives: The Friedreich ataxia (FRDA) scientific community needs access to patient-centered outcome measures that satisfy regulatory guidelines and are capable of tracking clinically meaningful changes in FRDA disease burden. The objective of this research was to develop a novel, disease-specific caregiver-reported outcome measure for use in FRDA research and clinical care.

Methods: In prior work, we conducted qualitative interviews and a cross-sectional study of FRDA caregivers and patients to determine the symptoms of greatest importance to individuals with FRDA.

Patient- and caregiver-reported impact of symptoms in Duchenne muscular dystrophy.

Introduction/aims: To better understand the disease burden faced by individuals with Duchenne muscular dystrophy (DMD) of all ages and elucidate potential targets for therapeutics, this study determined the prevalence and relative importance of symptoms experienced by individuals with DMD and identified factors associated with a higher disease burden.

Methods: We conducted qualitative interviews with individuals with DMD and caregivers of individuals with DMD to identify potential symptoms of importance to those living with DMD. We subsequently performed a cross-sectional study to assess which symptoms have the highest prevalence and importance in DMD and to determine which factors are associated with a higher disease burden.

Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD).

Background: Adrenoleukodystrophy (ALD) is a multifaceted, X-linked, neurodegenerative disorder that comprises several clinical phenotypes. ALD affects patients through a variety of physical, emotional, social, and other disease-specific factors that collectively contribute to disease burden. To facilitate clinical care and research, it is important to identify which symptoms are most common and relevant to individuals with any subtype of ALD.

The Crohn's Disease-Health Index: Development and Evaluation of a Novel Outcome Measure.

Objective: We sought to develop and validate the Crohn's Disease-Health Index (CD-HI), a disease-specific, patient-reported outcome measure that serially measures Crohn's disease (CD) symptomatic burden in adults with CD.

Background: As therapeutic interventions are tested among patients with CD, responsive outcome measures are needed to track disease progression and therapeutic gain during clinical trials.

Patients And Methods: We conducted a national cross-sectional study of individuals with CD to identify the most prevalent and impactful symptoms of CD.

Patient-Reported Impact of Symptoms in Fibromyalgia (PRISM-FM).

Objective: To identify the frequency and relative importance of symptoms experienced by adults with fibromyalgia (FM) and determine factors associated with a higher disease burden.

Methods: We conducted semistructured interviews with 15 participants with FM, collecting 1479 quotes regarding the symptomatic burden of FM. We then performed an international cross-sectional study involving 1085 participants with FM to determine the prevalence and relative importance (scale 0-4) of 149 symptoms representing 14 symptomatic themes.

A longitudinal study of disease progression in facioscapulohumeral muscular dystrophy (FSHD).

Introduction/aims: In preparation for clinical trials, it is important to better understand how disease burden changes over time in facioscapulohumeral muscular dystrophy (FSHD) and to assess the capability of select metrics to detect these changes. This study aims to evaluate FSHD disease progression over 1 year and to examine the sensitivity of several outcome measures in detecting changes during this interval.

Methods: We conducted a 12-month prospective observational study of 41 participants with FSHD.

Friedreich's Ataxia-Health Index: Development and Validation of a Novel Disease-Specific Patient-Reported Outcome Measure.

Background And Objectives: To develop a valid, disease-specific, patient-reported outcome (PRO) measure for adolescents and adults with Friedreich ataxia (FA) for use in therapeutic trials.

Methods: We conducted semistructured qualitative interviews and a national cross-sectional study of individuals with FA to determine the most prevalent and burdensome symptoms and symptomatic themes to this population. These symptoms and symptomatic themes were included as questions in the first version of the Friedreich's Ataxia-Health Index (FA-HI).

The Facioscapulohumeral Muscular Dystrophy-Health Index: Development and evaluation of a disease-specific outcome measure.

Introduction/aims: As promising therapeutic interventions are tested among patients with facioscapulohumeral muscular dystrophy (FSHD), there is a clear need for valid and reliable outcome tools to track disease progression and therapeutic gain in clinical trials and for clinical monitoring. Our aim was to develop and validate the Facioscapulohumeral Muscular Dystrophy-Health Index (FSHD-HI) as a multifaceted patient-reported outcome measure (PRO) designed to measure disease burden in adults with FSHD.

Methods: Through initial interviews with 20 individuals and a national cross-sectional study with 328 individuals with FSHD, we identified the most prevalent and impactful symptoms in FSHD.

Patient-reported impact of symptoms in lung cancer (PRISM-LC).

Background: Individuals with lung cancer (LC) face a variety of symptoms that significantly impact their lives. We use extensive patient input to determine the relative importance and prevalence of these symptoms and identify which demographic features are associated with a higher level of disease burden.

Methods: We performed semi-structured qualitative interviews with participants with LC to identify potentially important symptoms.

The amyotrophic lateral sclerosis-health index (ALS-HI): development and evaluation of a novel outcome measure.

: The identification of effective therapeutics for ALS necessitates valid and responsive outcome measures to track disease progression and therapeutic gain in clinical trial settings. The Amyotrophic Lateral Sclerosis-Health Index (ALS-HI) is a multifaceted, disease-specific patient-reported outcome measure (PRO) designed to measure ALS symptomatic disease burden in adults with ALS. Through a national cross-sectional study of individuals with ALS, we identified the most important symptoms in ALS.

Disease Burden in Children With Spinal Muscular Atrophy: Results From a Large Cross-Sectional Study.

To facilitate advances in spinal muscular atrophy therapeutic research, it is important to determine the impact and prevalence of symptoms experienced by children with spinal muscular atrophy. We conducted qualitative interviews with caregivers of children with spinal muscular atrophy. From these interviews, we generated a survey inquiring about 260 symptoms of importance grouped into 17 symptomatic themes.

Patient reported impact of symptoms in amyotrophic lateral sclerosis (PRISM-ALS): A national, cross-sectional study.

Background: As novel therapeutic interventions are being developed and tested in the amyotrophic lateral sclerosis (ALS) population, there is a need to better understand the symptoms and issues that have the greatest impact on the lives of individuals with ALS. We aimed to determine the frequency and relative importance of symptoms experienced by adults in a national ALS sample and to identify factors that are associated with the greatest disease burden in this population.

Methods: We conducted 15 qualitative interviews of individuals with varied ALS phenotypes and analyzed 732 quotes regarding the symptomatic disease burden of ALS between August 2018 and March 2019.

Patient-Reported Impact of Symptoms in Friedreich Ataxia.

Background And Objectives: To determine the prevalence and relative importance of symptoms experienced by children and adults with Friedreich ataxia (FA) and to identify factors associated with a higher burden of disease.

Methods: We conducted qualitative interviews with individuals with FA and caregivers of pediatric individuals with FA to identify potential symptoms of importance to those living with FA. We subsequently performed a cross-sectional study to assess which symptoms have the highest prevalence and importance in FA and to determine which factors are associated with a higher burden of disease.

Patient-Reported Impact of Symptoms in Crohn's Disease.

Introduction: Patients with Crohn's disease (CD) experience a variety of symptoms that significantly affect their lives. In this study, we (i) ascertain the most prevalent and impactful symptoms in CD and (ii) identify modifying factors that are associated with a higher disease burden in CD.

Methods: We conducted semistructured interviews with adult participants with CD to determine what issues have the greatest impact on their lives.

P047 The Crohn's Disease-Health Index (CD-HI): Development and Validation of a Novel, Disease-Specific Patient Reported Outcome Measure for Clinical Trials.

Background: In preparation for upcoming clinical trials involving patients with Crohn's disease (CD), we examine the validity, reliability and usability of the Crohn's Disease-Health Index (CD-HI). The CD-HI is a multifaceted, disease-specific patient reported outcome measure (PROM) designed to measure CD symptomatic disease burden during clinical trials. As promising therapeutic interventions are being tested among CD patients, there is a clear need for researchers to have access to a valid, sensitive, and reliable patient reported outcome tool to track disease burden.

Immobilization of transgenic plant cells towards bioprinting for production of a recombinant biodefense agent.

Transgenic rice cells (Oryza sativa) producing recombinant butyrylcholinesterase (BChE) as a prophylactic/therapeutic against organophosphate nerve agent poisoning, cocaine toxicity, and neurodegenerative diseases like Alzheimer's were immobilized in a polyethylene glycol-based hydrogel. The cells were sustained for 14 days in the semi-solid matrix, undergoing a growth phase from days 0-6, a BChE production phase in sugar-free medium from days 6-12, and a growth/recovery phase from days 12-14. Throughout this period, the cells maintained similar viability to those in suspension cultures and displayed analogous sugar consumption trends.