Quality-of-life assessment instruments used across ALS clinics.

INTRODUCTION/AIMS: Instruments have been developed to assess quality of life (QoL) among people with amyotrophic lateral sclerosis (ALS). It is unclear whether these are utilized regularly in the clinical setting to guide individual patient care. In this study we aimed to understand the current use of instruments and existing barriers to assessing QoL in clinical ALS care. METHODS: An anonymous survey developed by Northeast ALS (NEALS) Consortium Palliative Committee members was distributed to all multidisciplinary NEALS members. Data were summarized via calculation of descriptive statistics. ALS Center characteristics were compared using chi-square and Fisher exact tests for categorical variables. RESULTS: Seventy-three (6.4%) of the 1132 NEALS members responded to the survey, representing 148 clinics, 49.3% of whom reported assessing QoL during clinic visits. The most used ALS-specific instruments were the ALS Assessment Questionnaire (19.4%) and Amyotrophic Lateral Sclerosis Specific Quality of Life scale (16.6%). Barriers reported were uncertainty regarding which instrument to use and length of visits. QoL assessment was not significantly correlated with length of clinic visit but with access to specialty palliative care. DISCUSSION: QoL assessments are performed by some, but not all, ALS centers during clinical visits. Although this study did have a low number of responding centers, the percentage, the proportion is similar to that seen in earlier studies, which limits the findings' generalizability. The value of QoL assessments' impact on outcomes should be further investigated and, if warranted, creative ways sought to increase the frequency of their use, including patient self-assessments before clinic and/or the use of teleheath to reduce the length of clinic visits.

Idiopathic Intracranial Hypertension Secondary to Chronic Inflammatory Demyelinating Polyradiculoneuropathy.

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is the most common immune-mediated inflammatory polyneuropathy, defined as progressive or relapsing symptoms for over two months with pathological or electrophysiological evidence of peripheral nerve demyelination. Papilledema is optic nerve head edema secondary to increased intracranial pressure or infiltrative/infectious etiologies. Regardless of the cause, visual loss is one of the feared manifestations due to optic nerve damage. We present a 50-year-old female patient with CIDP who developed papilledema that was secondary to increased intracranial pressure from high protein content in the cerebrospinal fluid (CSF) and elevated body mass index (BMI) secondary to prednisone use. Treatment with acetazolamide completely resolved the papilledema and headaches, and the patient was later maintained on mycophenolate, intravenous immunoglobulin (IVIG), rituximab, and prednisone. To the best of our knowledge, this is the first case that describes successful medical management of increased intracranial pressure in the setting of CIDP.

MN-166 (ibudilast) in amyotrophic lateral sclerosis in a Phase IIb/III study: COMBAT-ALS study design.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with motor neuron loss as a defining feature. Despite significant effort, therapeutic breakthroughs have been modest. MN-166 (ibudilast) has demonstrated neuroprotective action by various mechanisms: inhibition of proinflammatory cytokines and macrophage migration inhibitory factor, phosphodiesterase inhibition, and attenuation of glial cell activation in models of ALS. Early-phase studies suggest that MN-166 may improve survival outcomes and slow disease progression in patients with ALS. This article describes the rationale and design of COMBAT-ALS, an ongoing randomized, double-blind, placebo-controlled, multicenter Phase IIb/III study in ALS. This study is designed to evaluate the pharmacokinetics, safety and tolerability and assess the efficacy of MN-166 on function, muscle strength, quality of life and survival in ALS.

Lay abstract Amyotrophic lateral sclerosis (ALS) is a neurological disease defined by the loss of the nerve cells going to the muscles. Despite significant effort, we still do not have good treatments for ALS. MN-166 (ibudilast) can protect nerve cells by calming inflammation in several ways in models of ALS. Early human studies suggest that MN-166 may extend life and slow disease progression in ALS patients. This article describes the rationale and design of COMBAT-ALS, an ongoing randomized, double-blind, placebo-controlled, multicenter Phase IIb/III study. This study will show the drug's safety and tolerability and its effects on physical function, muscle strength, quality of life and survival in people living with ALS. Trial registration number: NCT04057898 (ClinicalTrial.gov).

A Case Series of Adult-Onset Rasmussen's Encephalitis: Diagnostic and Therapeutic Challenges.

Rasmussen's encephalitis (RE) is a rare neurologic disorder characterized by progressive cerebral hemiatrophy and medically refractory epilepsy. The majority of current literature on this topic is focused on the pediatric population. In this case series, we will review three cases of adult-onset RE, as defined by fulfillment of the 2005 Bien criteria. The diagnostic challenge of characterizing this rare disease will be highlighted by the extensive serum, CSF, and pathologic sampling in all three patients. MR imaging and EEG data will be examined over time to characterize hallmark findings as well as progression. In addition, we will review the various forms of therapy attempted in these three patients, namely anti-epileptic drug therapy and immunomodulatory therapy. We will also utilize this case series to critically evaluate the broader context of atypical presentations of this disease and the value of current diagnostic criteria.