PMID- 31970692
OWN - NLM
STAT- MEDLINE
DCOM- 20210602
LR  - 20210602
IS  - 2168-4804 (Electronic)
IS  - 2168-4790 (Print)
IS  - 2168-4790 (Linking)
VI  - 54
IP  - 5
DP  - 2020 Sep
TI  - Patient Input to Inform the Development of Central Nervous System Outcome 
      Measures in Myotonic Dystrophy.
PG  - 1010-1017
LID - 10.1007/s43441-020-00117-3 [doi]
AB  - Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are 
      multisystem, genetic disorders caused by repeat expansions on chromosome 19 (DM1) 
      and chromosome 3 (DM2). Although the effects of DM on the skeletal, cardiac, and 
      smooth muscles, as well as the endocrine and central nervous systems, can be 
      disabling, there are no disease-modifying therapies for the disorder. Following a 
      process established by the US Food and Drug Administration (FDA) in 2012 known as 
      the Patient-Focused Drug Development (PFDD) Initiative, Myotonic (formerly the 
      Myotonic Dystrophy Foundation) has been conducting patient- and 
      caregiver-inclusive sessions to explore disease burden as defined by patients and 
      caregivers, and what affected individuals want most from potential new therapies. 
      In September 2017, at Myotonic's annual conference, a session titled "Bringing 
      the Patient Voice to CNS-Targeting Drug Development in Myotonic Dystrophy" 
      attracted some 350 members of the DM community. During the session, patients and 
      caregivers described CNS disease symptoms, their impact on quality of life, and 
      potential CNS-related targets that they considered important for drug development 
      consideration. These included fatigue and daytime sleepiness; dysregulated sleep; 
      cognitive deficits such as "brain fog," memory and focus impairment, learning and 
      attention difficulties, and time management challenges; 
      emotional/psychological/behavioral difficulties, including impulsivity, apathy, 
      antisocial behavior, personality changes, and depression; social difficulties, 
      including disconnection, lack of awareness, and feelings of isolation; and 
      general anxieties about the future and potential loss of independence. 
      Improvements in memory and lessening of "brain fog" were considered particularly 
      important.
FAU - White, Molly
AU  - White M
AD  - Myotonic Dystrophy Foundation, 1004A O'Reilly Avenue, San Francisco, CA, USA, 
      94129. molly.white@myotonic.org.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20200122
PL  - Switzerland
TA  - Ther Innov Regul Sci
JT  - Therapeutic innovation & regulatory science
JID - 101597411
SB  - IM
MH  - Central Nervous System
MH  - Humans
MH  - *Myotonic Dystrophy/genetics
MH  - Outcome Assessment, Health Care
MH  - Quality of Life
MH  - United States
PMC - PMC7458891
OTO - NOTNLM
OT  - CNS
OT  - PFDD
OT  - endpoint
OT  - myotonic dystrophy
COIS- There are no potential conflicts of interest or conference presentations of this 
      work.
EDAT- 2020/01/24 06:00
MHDA- 2021/06/03 06:00
PMCR- 2020/01/22
CRDT- 2020/01/24 06:00
PHST- 2019/10/02 00:00 [received]
PHST- 2019/12/06 00:00 [accepted]
PHST- 2020/01/24 06:00 [pubmed]
PHST- 2021/06/03 06:00 [medline]
PHST- 2020/01/24 06:00 [entrez]
PHST- 2020/01/22 00:00 [pmc-release]
AID - 10.1007/s43441-020-00117-3 [pii]
AID - 117 [pii]
AID - 10.1007/s43441-020-00117-3 [doi]
PST - ppublish
SO  - Ther Innov Regul Sci. 2020 Sep;54(5):1010-1017. doi: 10.1007/s43441-020-00117-3. 
      Epub 2020 Jan 22.