PHENODM1

PHENODM1

"Myotonic Dystrophy type 1 (DM1) deep phenotyping to improve delivery of personalized medicine and assist in the planning, design and recruitment of clinical trials”

Study Type - Observational
Design Type - Cohort study
Disease(s) - Genetics Research and Congenital Disorders
Current Status - Open
Closure Date - 31/03/2017
Geographical Scope - UK Multi-Centre
Lead Country - England
Open to new sites - Yes, within lead country only
Funder(s) - NIHR
Sponsor(s) - Newcastle upon Tyne Hospitals NHS Foundation Trust


Professor Hanns Lochmϋller (Newcastle, UK) together with Dr Chris Turner (London, UK) have received funding from the NIHR (National Institute for Health Research) in the United Kingdom to deep phenotype 400 patients with myotonic dystrophy type 1 in the UK. The projected entitled “PHENODM1- Myotonic Dystrophy type 1 (DM1) deep phenotyping to improve delivery of personalized medicine and assist in the planning, design and recruitment of clinical trials” will run across the two centres for the next two years.

Pheno-DM1 will use patient reported outcomes to assess levels of pain, fatigue and quality of life in this cohort. Clinical and functional outcomes will look at muscle wasting and levels of myotonia. DNA, RNA, serum and CSF samples will be taken from all patients so that additional genetic and molecular biomarker analysis can be carried out. A subset of patients will undergo detailed sleep studies along with skeletal muscle MRI of the lower limbs. This study will complement the work of other groups currently looking at myotonic dystrophy type 1 including the large European trial OPTIMISTIC, using the same outcomes and measures where possible.

For more information please contact

Dr. Nikoletta Nikolenko
Clinical Research Associate

Address:
John Walton Muscular Dystrophy Research Centre
Institute of Genetic Medicine
Newcastle University
International Centre for Life
Central Parkway
Newcastle Upon Tyne, NE1 3BZ, UK
Telephone Number: 0191 241 8640
Email Address: Nikoletta.Nikolenko@newcastle.ac.uk

 
01 Apr 2016