A Comprehensive Approach to Assessing the Value of Prophylactic Therapy for the Ultra Rare Disease Hereditary Angioedema Using Real World Patient Data

Introduction: Hereditary angioedema (HAE) is a disease that leads to recurrent swelling of the skin and mucous membranes, including the upper airway tract. Apart from being deadly, these attacks can be debilitating, which leads to a poor quality of life in patients. Clinicians are occasionally confronted with patients who have recurrent attacks despite treatment with C1 esterase inhibitor concentrate or β2-receptor antagonists. The goal of this study was to investigate repeated attacks that occur 48 hours to 7 days (“cluster attacks”) after treatment, to determine why they occur and the factors that may be associated with them, and thus to prevent their occurrence. Methods: We conducted a multicenter mixed retrospective-prospective study with data acquired from all documented attacks in our patients with collective (n = 132) between 2015 and 2018. Results: Eighty-five percent (n = 132) of our total patient collective (N = 156) agreed to participate in the study. Nine percent of these patients (n = 12) had cluster attacks, with a total of 48 cluster attacks. The data procured from the patients were mixed retrospective‐prospective. Approximately 72% of all the cluster attacks were caused by exogenous stimuli (41% due to psychological stress, 29% due to physical stimuli, and 2% due to menstruation). Cluster attacks occurred in 7% of the patients who received prophylactic therapy in comparison with 12.5% of patients who received on-demand therapy. Cluster attacks comprised 48.4% of all the attacks that patients with cluster-attacks (n= 9) experienced. In addition, the patients who were underdosing their C1 esterase inhibitor treatment had cluster attacks more often. A lower “time to repeated attack” was seen in the patients who received on-demand therapy compared with those who received prophylactic therapy. Discussion: The percentage of the patients who had attacks as a result of exogenous triggers was higher in the cluster-attack group (70.5%) compared with the general HAE population (30‐42%). Repeated attacks, therefore, were strongly associated with external triggers. The patients who received prophylactic treatment and who experienced cluster attacks were highly likely to have been underdosing, which may explain the repeated attacks despite treatment. In the patients prone to cluster attacks, prophylaxis should be considered.

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A Real World Evidence (RWE) Approach To Characterising An Ultra-Rare Disease (URD) Cohort of Metastatic Uveal Melanoma (MUM) Patients Within National Health Service England (NHSE)

Value in Health ◽

10.1016/j.jval.2017.08.1988 ◽

2017 ◽

Vol 20 (9) ◽

pp. A730

Author(s):

M Schwenkglenks ◽

G Alamgir ◽

C Cheng ◽

EJ Adams ◽

T Toward

Keyword(s):

National Health Service ◽

Health Service ◽

Rare Disease ◽

Uveal Melanoma ◽

National Health ◽

Real World ◽

Real World Evidence

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The case for open science: rare diseases

JAMIA Open ◽

10.1093/jamiaopen/ooaa030 ◽

2020 ◽

Vol 3 (3) ◽

pp. 472-486

Author(s):

Yaffa R Rubinstein ◽

Peter N Robinson ◽

William A Gahl ◽

Paul Avillach ◽

Gareth Baynam ◽

...

Keyword(s):

Rare Disease ◽

Rare Diseases ◽

Medical Management ◽

Open Science ◽

Patient Data ◽

Diagnosis And Treatment ◽

Community Research ◽

The Core ◽

Delays In Diagnosis

Abstract The premise of Open Science is that research and medical management will progress faster if data and knowledge are openly shared. The value of Open Science is nowhere more important and appreciated than in the rare disease (RD) community. Research into RDs has been limited by insufficient patient data and resources, a paucity of trained disease experts, and lack of therapeutics, leading to long delays in diagnosis and treatment. These issues can be ameliorated by following the principles and practices of sharing that are intrinsic to Open Science. Here, we describe how the RD community has adopted the core pillars of Open Science, adding new initiatives to promote care and research for RD patients and, ultimately, for all of medicine. We also present recommendations that can advance Open Science more globally.

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PSY6 THE ICATIBANT OUTCOME SURVEY:A PROSPECTIVE STUDY OF SAFETY AND EFFECTIVENESS OF ICATIBANT IN A ‘REAL WORLD' SETTING IN PATIENTS WITH HEREDITARY ANGIOEDEMA

Value in Health ◽

10.1016/s1098-3015(11)72955-2 ◽

2010 ◽

Vol 13 (7) ◽

pp. A460

Author(s):

M Maurer ◽

W Aberer ◽

LM Amat ◽

M Karon-Klefbom ◽

M Malmenäs ◽

...

Keyword(s):

Prospective Study ◽

Real World ◽

Hereditary Angioedema ◽

Real World Setting

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Real-world stent retriever thrombectomy for acute ischemic stroke beyond 6 hours of onset: analysis of the NASA and TRACK registries

Journal of NeuroInterventional Surgery ◽

10.1136/neurintsurg-2018-014272 ◽

2018 ◽

Vol 11 (4) ◽

pp. 334-337 ◽

Cited By ~ 10

Author(s):

Maxim Mokin ◽

Alex Abou-Chebl ◽

Alicia C Castonguay ◽

Raul G Nogueira ◽

Joey D English ◽

...

Keyword(s):

Ischemic Stroke ◽

Acute Stroke ◽

Acute Ischemic Stroke ◽

Real World ◽

Symptom Onset ◽

Individual Patient Data ◽

Patient Data ◽

Stent Retriever ◽

Anterior Circulation ◽

Stroke Symptom

BackgroundThe DEFUSE 3 and DAWN trials have shown the benefit of thrombectomy beyond 6 hours of stroke symptom onset in carefully selected patients.ObjectiveTo evaluate the real-world outcomes of stent retriever thrombectomy beyond 6 hours of stroke onset using combined individual patient data from the North American Solitaire Stent Retriever Acute Stroke (NASA) and Trevo Stent-Retriever Acute Stroke (TRACK) registries.MethodsPooled analysis of individual patient data of all cases of anterior circulation acute ischemic stroke (AIS) from NASA and TRACK was performed to compare outcomes of patients presenting within the first hours 6 or beyond 6 hours of stroke symptom onset.ResultsOf 830 patients with anterior circulation AIS from the NASA and TRACK registries, 32.7% (271 patients) underwent thrombectomy beyond the first 6 hours of symptom onset. The rates of good clinical outcome (modified Rankin scale score of 0–2 at 90 days), mortality, and symptomatic intracranial hemorrhage were similar: 48.1%, 20.6%, and 8.0% within 0–6 hours, 46.2%, 21.6%, and 10.9% within 6–16 hours, and 38.9%, 33.3%, and 5% within 16–24 hours (p=0.8, 0.6, and 0.5, respectively). The rates of successful recanalization (Thrombolysis in Cerebral Infarction 2b/3) were 79.4% in patients with stroke within 0–6 hours, 72.6% within 6–16 hours, and 85.0% within 16–24 hours (p=0.04).ConclusionsReal-world experience with patients with anterior circulation AIS treated with the Solitaire and Trevo thrombectomy devices beyond the first 6 hours of symptom onset proved to be equally safe and effective as for patients with symptom onset within the first 6 hours.

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