Spinal Muscular Atrophy (SMA) project
A) Since 2018 OUH have administered Nusinersin (Spinraza) to children with SMA. More recently Zolgensma and Risdiplam has also been available treatments. We are involved in an ongoing Phd project on patients that have received treatment. PI and main supervisor is Sean Wallace.
B) We also have an ongoing project on the diet of children with SMA. PI is Marianne Nordstrøm.
Hypocalemic periodic paralysis project- In collaboration with Frambu
How are your muscles affected by what you eat and how physically active you are?
In order to offer better guidance to people with hypokalemic periodic paralysis, we want to learn from the patients`experiences. PI is Marianne Nordstrøm.
Myotonic Dystrophy type 1 projects:
A) We have finalized a Phd project on “Trunk Muscle Impairments and Pain in Myotonic Dystrophy type 1 Association to CTG size and Function”. Digital Public Defence: Gro Solbakken - Institute of Clinical Medicine (uio.no). Main supervisor was Kristin Ørstavik.
B) We have an ongoing Phd project on “Symptoms, Outcome measures and Treatment of arm- and hand function in Myotonic Dystrophy type 1”. PhD student Hanne Ludt Fossmo. Kristin Ørstavik is a co-supervisor. The project consists of three substudies;
1) Translation, reliability and validity of the Norwegian version of ABILHAND-NMD and ACTIVLIM for people with Myotonic Dystrophy type 1.
2) Symptoms and Outcome Measures for Upper- Limb Function in Myotonic Dystrophy Type 1 (SOUL-DM1). Symptoms and Outcome Measures for Upper- Limb Function in Myotonic Dystrophy Type 1 - Full Text View - ClinicalTrials.gov. Data collection is ongoing. PI Kristin Ørstavik
3) Technology Assisted Rehabilitation for Upper Limb Function in Myotonic Dystrophy Type 1 (Technorehab). Technology Assisted Rehabilitation for Upper Limb Function in Myotonic Dystrophy Type 1 - Full Text View - ClinicalTrials.gov. Data collection is ongoing. PI Hilde Robinson
C) We also collaborate on an ongoing Phd project from the Norwegian School of Sport Sciences. The project includes a study called Myotonic Dystrophy Type 1 and Resistance Exercise (STYRK DM1). Myotonic Dystrophy Type 1 and Resistance Exercise - Full Text View - ClinicalTrials.gov. Kristin Ørstavik is a co-supervisor.
D) We have finished and have recently submitted a paper on DM1 in children and cognitive impairment (2022). PI is Magnhild Rasmussen
Duchennes muscular dystrophy project
We have an ongoing Phd project on “Duchenne Muscular Dystrophy under 18y in Norway: Genotype/Phenotype, Growth, Puberty, Bone Health and Quality of Life. Duchenne Muscular Dystrophy < 18y in Norway: Genotype/Phenotype, Growth, Puberty, Bone Health and Quality of Life. - Full Text View - ClinicalTrials.gov. PhD student Ellen Annexstad and Main-supervisor Magnhild Rasmussen.
Charcot-Marie Tooth (CMT) project:
Physical activity in people with hereditary polyneuropathies. Identify potential solutions that can be used in a future intervention study to improve quality of life and regular physical activity in people with CMT. PI and Main supervisor Kristin Ørstavik.
Neuromuscular disorders in Heart-transplant recipients in Norway.
The Heart-Musc Study.
Several rare neuromuscular disorders may cause cardiomyopathy and in some patients even be fatal. Since 1983 almost 1100 people have received a heart-transplant (HTX) in Norway. Approximately 40% were diagnosed with cardiomyopathy. This is a collaboration between Department of Cardiology, Department of Medical Genetics and our Research Group. PI and main supervisor Kristin Ørstavik.
In this PhD study we are planning 3 work-packages:
WP1. We will go through the medical records of all HTX, patients diseased or alive (after consent) and register if they had neuromuscular symptoms or findings, if there was a positive family history of cardiomyopathy/NMD and to what extent genetic testing was performed and the results.
WP2. In alive patients with unknown genetic cause of cardiomyopathy, an updated genetic testing will be offered both to those, who were previously tested and in those to date untested.
WP3. In patients with genetic findings and/or medical records indicating an hereditary NMD, clinical testing as well as supplementary work-up will be performed.
AMC project in collaboration with National resource Center for Rare Disorders (TRS), Sunnaas Hospital.
In this project, we are planning to go through all registered patients with AMC in Norway to explore both genetically and clinically if they have a rare NMD that might explain their arthrogryposis. This projects is mainly localized at TRS, but kristin Ørstavik will be involved and function as a Co-supervisor in a planned PhD.
Health Literacy in patients with rare Neuromuscular disorders and their relatives
A project involving several Center for rare disorders and with PI at Frambu.