The EXPLAIN study: Exploring Arthrogryposis Multiplex Congentica in adults in Norway

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Project leader

Lena Lande Wekre, MD, PhD, Senior Consultant at TRS National Resource Center for Rare Disorders, Sunnaas Rehabilitation Hospital

Abstract

Arthrogryposis Multiplex Congenita, AMC, is a descriptive term for the presence of multiple joint-contractures in two or more body areas at birth1. Several hundred conditions, from well-defined syndromes to non-specific combinations of contractures, are described to have AMC as a clinical sign. However, these conditions vary widely in terms of genetic origin, pathophysiology and clinical presentation.

Children with AMC usually receive a close, clinical follow-up with extensive orthopedic surgery, manipulation of joints, physiotherapy and occupational therapy. However, the follow-up becomes considerably less with age. This is probably related to the lack of knowledge about aetiology, function and needs of adults with AMC. Our group recently performed a scoping review revealing knowledge gaps related to ageing and implications on daily life, but also regarding the etiological causes behind AMC.

The overarching aim of this project is to gain new insights into the phenotype - genotype connection of AMC. Further, we will close important knowledge gaps about the implications of the disease on daily life of adults. We will invite all patients registrered at the National Resource Center for AMC to take part in the study, which will perform extensive examinations based on the unique combined competence of the multidisciplinary team.

Project leader, main supervisor

Lena Lande Wekre, MD, PhD, Senior Consultant, TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital

Co-supervisor, investigator neurophysiology

Kristin Ørstavik, MD, PhD, Senior Consultant in Neurology and Clinical Neurophysiology and Section leader, Unit for Congenital and Hereditary Neuromuscular Disorders (EMAN) and Section for rare neuromuscular disorders, Department of Neurology, OUH.

Co-supervisor and contact to the University of Oslo

Mathias Toft, MD, PhD, Professor, Head of Department of Neurology, Department of Neurology, OUH.

Supervisor in genetics, investigator genetic analyses

Inger-Lise Mero, MD, PhD, Clinical Geneticist, Senior Consultant, Department of Medical Genetics, OUH.

Investigator of genetic analyses

Magnus D. Vigeland, Post Doc, Mathematician, Research Department of Medical Genetics, OUH.

Carry out the clinical investigations

My Vuong Hermansen, MD, Senior Consultant in Neurology, PhD student, TRS National Resource Centre for Rare Disorders, Sunnaas RH and Department of Neurology, OUH

Tests: Mapping of ADL and grip strength

Unni Steen, Senior occupational therapist, MSc, TRS National Resource Centre for Rare Disorders, Sunnaas RH.

Tests: Mapping of function

Kristina Aa. Rasmussen, Senior physiotherapist, TRS Resource Centre for Rare Disorders, Sunnaas RH.

Supervisor of statistics

Not decided

Patient representative

Monica Haugen, Experience expert, president, The Norwegian Patient Association for AMC

Ethical approvals

REK nr. 374656
SIKT nr. 522592

Funding

The project has received economical support from The Norwegian National Advisory Unit on Rare Disorders, NKSD, and TRS National Resource Centre for Rare Disorders to carry out a scoping review article on AMC, in order to be able to identify knowledge gaps and prepare the protocol for this project.
External funding from HSØ granted from 2024.

Time period

2021-January 2023: Carried out the scoping article and prepared the protocol
Autumn 2023-spring 2027: Execute the actual project