Published:
Last updated:
K2. objective
ID
NL-OMON36875
Source
ToetsingOnline
Brief title
Presentation of MD1 and 2 within a five-generation family
Condition
- Other condition
- Chromosomal abnormalities, gene alterations and gene variants
Synonym
PROMM, Steinert's disease // Ricker's disease
Health condition
multisysteemaandoeningen
Research involving
Human
Sponsors and support
Primary sponsor
:
Universitair Medisch Centrum Sint Radboud
Source(s) of monetary or material Support
:
onderzoeksbudget afdeling neuromusculaire ziekten
Intervention
Keyword
:
myotonic dystrophy type 1 (Steinert), myotonic dystrophy type 2 (PROMM), pedigree, phenotype
Outcome measures
Primary outcome
K2. primary study parameters
Secondary outcome
K2. secundary study parameters
Background summary
K2. background
Study objective
K2. objective
Study design
K2. design
Study burden and risks
K2. burden and risks
Public
Universitair Medisch Centrum Sint Radboud
Geert GrootepleinZuid 10
Nijmegen 6525 GA
NL
Geert GrootepleinZuid 10
Nijmegen 6525 GA
NL
Scientific
Universitair Medisch Centrum Sint Radboud
Geert GrootepleinZuid 10
Nijmegen 6525 GA
NL
Geert GrootepleinZuid 10
Nijmegen 6525 GA
NL
Listed location countries
Netherlands
Age
Adults (18-64 years)
Elderly (65 years and older)
Inclusion criteria
- member of the 5-generation family
- age >- 18 years
Exclusion criteria
age < 18 years
Design
Study type
:
Observational invasive
Masking
:
Open (masking not used)
Control
:
Uncontrolled
Primary purpose
:
Diagnostic
Recruitment
NL
Recruitment status
:
Pending
Start date (anticipated)
:
Enrollment
:
15
Type
:
Anticipated
Approved WMO
Date
:
Application type
:
First submission
Review commission
:
CMO regio Arnhem-Nijmegen (Nijmegen)
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL41136.091.12 |