Innovative research methods for studying treatments for rare diseases: methodological review (Q38271185)

1 September 2017

6 references

22 June 2019

30 June 2019

19 September 2019

27 August 2020

1 September 2020

2 October 2020

Innovative research methods for studying treatments for rare diseases: methodological review (English)

1 reference

biomedical investigative technique

1 September 2017

1 reference

19 September 2019

2 references

1 September 2020

1 reference

27 August 2020

evidence-based medicine

1 reference

2 October 2020

Aaron S Kesselheim

4

0 references

Joshua J Gagne

series ordinal

1

object named as

Joshua J Gagne

1 reference

1 September 2017

Lauren Thompson

2

1 reference

PMCID

4242670

1 September 2017

Kelly O'Keefe

series ordinal

3

1 reference

PMCID

4242670

1 September 2017

language of work or name

English

0 references

publication date

24 November 2014

7 references

1 September 2017

22 June 2019

30 June 2019

19 September 2019

27 August 2020

1 September 2020

2 October 2020

7 references

1 September 2017

22 June 2019

30 June 2019

19 September 2019

27 August 2020

1 September 2020

2 October 2020

349

1 reference

1 September 2017

g6802

1 reference

Creative Commons Attribution-NonCommercial 4.0 International

1 September 2017

6 references

22 June 2019

30 June 2019

19 September 2019

27 August 2020

1 September 2020

Strategies for postmarketing surveillance of drugs for rare diseases.

2 October 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Experimental designs for small randomised clinical trials: an algorithm for choice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

The institution-based prospective inception cohort study: design, implementation, and quality assurance in pediatric thrombosis and stroke research

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Mining online social network data for biomedical research: a comparison of clinicians' and patients' perceptions about amyotrophic lateral sclerosis treatments

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Outcomes of resecting subependymal giant cell astrocytoma (SEGA) among patients with SEGA-related tuberous sclerosis complex: a national claims database analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Surgical resection of subependymal giant cell astrocytomas (SEGAs) and changes in SEGA-related conditions: a US national claims database study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Clinical trials In BMT: ensuring that rare diseases and rarer therapies are well done

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Reducing selection bias in case-control studies from rare disease registries

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Institution-based prospective inception cohort studies in neonatal rare disease research

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Characteristics of clinical trials to support approval of orphan vs nonorphan drugs for cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

A framework for applying unfamiliar trial designs in studies of rare diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Accelerated clinical discovery using self-reported patient data collected online and a patient-matching algorithm

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Need to improve clinical trials in rare neurodegenerative disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

A case-control study: occupational cooking and the risk of uveal melanoma

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Clinical trials for rare lung diseases: lessons from lymphangioleiomyomatosis.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Mobile phone use and risk of uveal melanoma: results of the risk factors for uveal melanoma case-control study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Clinical research for rare disease: opportunities, challenges, and solutions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Adaptive design methods in clinical trials - a review

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Efficient ways exist to obtain the optimal sample size in clinical trials in rare diseases.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

The Juvenile Dermatomyositis National Registry and Repository (UK and Ireland)--clinical characteristics of children recruited within the first 5 yr.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Challenges in genetic testing for clinical trials of inherited and orphan retinal diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Design of phase III clinical trials for treatments of orphan retinal diseases: an overview of considerations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Case-control study on uveal melanoma (RIFA): rational and design

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Strategy for randomised clinical trials in rare cancers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

The cystic fibrosis therapeutics development network (CF TDN): a paradigm of a clinical trials network for genetic and orphan diseases.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Clinical trials and rare diseases: a way out of a conundrum

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

The Swiss registry for pulmonary arterial hypertension: the paediatric experience.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Case series analysis of adverse reactions to vaccines: a comparative evaluation

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Devising two-stage and multistage phase II studies on systemic adjuvant therapy for uveal melanoma

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Clinical trials and rare diseases

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Veterans health administration information systems as a resource for rare disorders research: Creutzfeldt-Jakob disease as a paradigm

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Clinical trial design in haemophilia

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Retrospective outcomes studies for orphan diseases: challenges and opportunities

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Outcome and prognostic factors in endometrial stromal tumors: a Rare Cancer Network study.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Rare diseases epidemiology research.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

N-of-1 clinical trials should be incorporated into clinical practice.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Positive interaction between light iris color and ultraviolet radiation in relation to the risk of uveal melanoma: a case-control study

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Clinical trials of orphan medicines

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Evaluating Medication Effects Outside of Clinical Trials: New-User Designs

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Itraconazole to prevent fungal infections in chronic granulomatous disease

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

The continuing unethical conduct of underpowered clinical trials.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4242670

Outcome and prognostic factors in olfactory neuroblastoma: a rare cancer network study

31 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25422272

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Comparison of logistic regression versus propensity score when the number of events is low and there are multiple confounders

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25422272

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The case-crossover design: a method for studying transient effects on the risk of acute events

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25422272

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/BMJ.G6802

1 reference

1 September 2017

1 reference

1 September 2017

1 reference

PMCID

4242670