PMID- 30352412
OWN - NLM
STAT- Publisher
LR  - 20240227
IS  - 2049-3614 (Print)
IS  - 2049-3614 (Electronic)
IS  - 2049-3614 (Linking)
VI  - 7
IP  - 11
DP  - 2018 Sep 1
TI  - 'Quality in, quality out', a stepwise approach to EBM for rare diseases promoted 
      by MEN1.
PG  - R260-74
LID - /journals/ec/aop/ec-18-0359.xml [pii]
LID - 10.1530/EC-18-0359 [doi]
AB  - Rare diseases pose specific challenges in the field of medical research to 
      provide physicians with evidence based guidelines derived from studies with 
      sufficient quality. An example of these rare diseases is multiple endocrine 
      neoplasia type 1 (MEN1), which is an autosomal dominant endocrine tumor syndrome 
      with an estimated occurrence rate of 2-3 per 100.000. For this complex disease, 
      characterized by multiple endocrine tumors, it proves difficult to perform both 
      adequate and feasible studies. The opinion of patients themselves is of utmost 
      importance to identify the gaps in the evidence based medicine regarding clinical 
      care. In the search for scientific answers to clinical research questions, the 
      aim for best available evidence is obvious. Observational studies within patient 
      cohorts, although prone to bias, seem the most feasible study design regarding 
      the disease prevalence. Knowledge and adaptation to all types of bias is demanded 
      in the strive for answers. Guided by our research on MEN1 patients, we elaborate 
      on strategies to identify sufficient patients, to maximize and maintain patient 
      enrollment and to standardize the data collection process. Preferably, data 
      collection is performed prospectively, however, under certain conditions data 
      storage in a longitudinal retrospective database with a disease-specific 
      framework is suitable. Considering the global challenges on observational 
      research on rare diseases, we propose a stepwise approach from clinical research 
      questions to scientific answers.
FAU - van Beek, Dirk-Jan
AU  - van Beek DJ
AD  - D van Beek, Endocrine Surgical Oncology, University Medical Center Utrecht, 
      Utrecht, Netherlands.
FAU - van Leeuwaarde, Rachel S
AU  - van Leeuwaarde RS
AD  - R van Leeuwaarde, Endocrine Oncology, University Medical Center Utrecht, Utrecht, 
      Netherlands.
FAU - Pieterman, Carolina Rc
AU  - Pieterman CR
AD  - C Pieterman, Endocrine Oncology, University Medical Center Utrecht, Utrecht, 
      Netherlands.
FAU - Vriens, Menno R
AU  - Vriens MR
AD  - M Vriens, Endocrine Surgical Oncology, University Medical Center Utrecht, 
      Utrecht, Netherlands.
FAU - Valk, Gerlof D
AU  - Valk GD
AD  - G Valk, Endocrine Oncology, University Medical Center Utrecht, Utrecht, 
      Netherlands.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20180901
PL  - England
TA  - Endocr Connect
JT  - Endocrine connections
JID - 101598413
PMC - PMC6215791
EDAT- 2018/10/24 06:00
MHDA- 2018/10/24 06:00
PMCR- 2018/09/13
CRDT- 2018/10/24 06:00
PHST- 2018/06/12 00:00 [received]
PHST- 2018/09/13 00:00 [accepted]
PHST- 2018/10/24 06:00 [entrez]
PHST- 2018/10/24 06:00 [pubmed]
PHST- 2018/10/24 06:00 [medline]
PHST- 2018/09/13 00:00 [pmc-release]
AID - /journals/ec/aop/ec-18-0359.xml [pii]
AID - EC180359 [pii]
AID - 10.1530/EC-18-0359 [doi]
PST - aheadofprint
SO  - Endocr Connect. 2018 Sep 1;7(11):R260-74. doi: 10.1530/EC-18-0359.