What can Duchenne Connect teach us about treating Duchenne muscular dystrophy?

Wang, Richard T.; Nelson, Stanley F.

doi:10.1097/wco.0000000000000245

Cited by 8 publications

(6 citation statements)

References 30 publications

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“…However, as lack of molecular diagnosis limits access to treatment, genetic counselling and research, a goal of the Registry is to gain sufficient funding so that it can facilitate access to genetic testing for patients who are not able to access testing through the usual pathways. This would be similar to other registries including Duchenne Connect [ 21 ], the Jain Foundation Dysferlin Registry [ 22 ] and the Myotubular Myopathy Registry [ 11 ].…”

Section: Discussionsupporting

confidence: 77%

The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients

O’Grady

Hammond-Tooke

Kidd

et al. 2017

JND

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The New Zealand Neuromuscular Disease Patient Registry has been recruiting for five years. Its primary aim is to enable people with neuromuscular disease to participate in research including clinical trials. It has contributed data to large anonymised cohort studies and many feasibility studies, and has provided practical information and advice to researchers wanting to work with people with neuromuscular conditions. 1019 people have enrolled since the Registry’s launch in August 2011 with over 70 different diagnoses. Of these; 8 patients have been involved in clinical trials, 134 in other disease-specific research and 757 have contributed anonymised data to cohort studies. As a result the Registry is now effectively facilitating almost all neuromuscular research currently taking place in New Zealand.

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Section: Discussionsupporting

confidence: 77%

The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients

O’Grady

Hammond-Tooke

Kidd

et al. 2017

JND

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show abstract

“…Patients and families have contributed to registries (predominantly natural history) through their enrollment and submission of data [ 24 , 30 – 37 ]. Many of the registries have been established by patient organizations, in collaboration with researchers and healthcare professionals [ 19 , 32 , 34 , 37 – 41 ].…”

Section: Resultsmentioning

confidence: 99%

Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review

Young

Menon

Street

et al. 2017

Orphanet J Rare Dis

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BackgroundPatients and their families have become more active in healthcare systems and research. The value of patient involvement is particularly relevant in the area of rare diseases, where patients face delayed diagnoses and limited access to effective therapies due to the high level of uncertainty in market approval and reimbursement decisions. It has been suggested that patient involvement may help to reduce some of these uncertainties. This review explored existing and proposed roles for patients, families, and patient organizations at each stage of the lifecycle of therapies for rare diseases (i.e., orphan drug lifecycle).MethodsA scoping review was conducted using methods outlined by Arksey and O’Malley. To validate the findings from the literature and identify any additional opportunities that were missed, a consultative webinar was conducted with members of the Patient and Caregiver Liaison Group of a Canadian research network.ResultsExisting and proposed opportunities for involving patients, families, and patient organizations were reported throughout the orphan drug lifecycle and fell into 12 themes: research outside of clinical trials; clinical trials; patient reported outcomes measures; patient registries and biorepositories; education; advocacy and awareness; conferences and workshops; patient care and support; patient organization development; regulatory decision-making; and reimbursement decision-making. Existing opportunities were not described in sufficient detail to allow for the level of involvement to be assessed. Additionally, no information on the impact of involvement within specific opportunities was found. Based on feedback from patients and families, documentation of existing opportunities within Canada is poor.ConclusionsOpportunities for patient, family, and patient organization involvement exist throughout the orphan drug lifecycle. However, based on the information found, it is not possible to determine which opportunities would be most effective at each stage.Electronic supplementary materialThe online version of this article (10.1186/s13023-017-0738-6) contains supplementary material, which is available to authorized users.

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“…Recruitment strategy was highlighted as a key variable in this study, where direct physician communication with PMD subjects was found most effective to motivate clinical trial participation. Recruitment for clinical trials in rare diseases can be aided by partnership with patient advocacy organizations and disease consortiums, particularly when a patient registry mechanism exists [ 16 , 37 ]. The NIH RDCRN and United Mitochondrial Disease Foundation (UMDF) have patient-populated registries, respectively designed to recruit patients with all rare and specifically mitochondrial diseases.…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial disease patient motivations and barriers to participate in clinical trials

et al. 2018

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BackgroundClinical treatment trials are increasingly being designed in primary mitochondrial disease (PMD), a phenotypically and genetically heterogeneous collection of inherited multi- system energy deficiency disorders that lack effective therapy. We sought to identify motivating factors and barriers to clinical trial participation in PMD.MethodsA survey study was conducted in two independent mitochondrial disease subject cohorts. A discovery cohort invited subjects with well-defined biochemical or molecularly- confirmed PMD followed at a single medical center (CHOP, n = 30/67 (45%) respondents). A replication cohort included self-identified PMD subjects in the Rare Disease Clinical Research Network (RDCRN) national contact registry (n = 290/1119 (26%) respondents). Five-point Likert scale responses were analyzed using descriptive and quantitative statistics. Experienced and prioritized symptoms for trial participation, and patient attitudes toward detailed aspects of clinical trial drug features and study design.ResultsPMD subjects experienced an average of 16 symptoms. Muscle weakness, chronic fatigue, and exercise intolerance were the lead symptoms encouraging trial participation.Motivating trial design factors included a self-administered study drug; vitamin, antioxidant, natural or plant-derivative; pills; daily treatment; guaranteed treatment access during and after study; short travel distances; and late-stage (phase 3) participation. Relative trial participation barriers included a new study drug; discontinuation of current medications; disease progression; daily phlebotomy; and requiring participant payment. Treatment trial type or design preferences were not influenced by population age (pediatric versus adult), prior research trial experience, or disease severity.ConclusionsThese data are the first to convey clear PMD subject preferences and priorities to enable improved clinical treatment trial design that cuts across the complex diversity of disease. Partnering with rare disease patient communities is essential to effectively design robust clinical trials that engage patients and enable meaningful evaluation of emerging treatment interventions.

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What can Duchenne Connect teach us about treating Duchenne muscular dystrophy?

Cited by 8 publications

References 30 publications

The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients

The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients

Exploring patient and family involvement in the lifecycle of an orphan drug: a scoping review

Mitochondrial disease patient motivations and barriers to participate in clinical trials

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