Study of the neuromuscular and multisystem features of patients with malignant hyperthermia or rhabdomyolysis related to a RYR1 variant

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 60

Inclusion Criteria

* A history of malignant hyperthermia susceptibility (MHS), confirmed by
diagnostic RYR1 variant or IVCT related to a RYR1 variant and/or a history of
rhabdomyolysis related to a variant in RYR1
* Minimum age 18 years old.

Exclusion Criteria

* Patients diagnosed with a neuromuscular disease resulting in muscle weakness
(apart from RYR1 related rhabdomyolysis and malignant hyperthermia).
* Patients with symptoms of angina pectoris.
* Patients with contra-indications for MRI-scan are excluded.
Contra-indications for MRI-scan include metallic implants (vascular clips,
foreign bodies like metallic splinters in the eye, coronary and peripheral
artery stents, prosthetic heart valves, pacemakers and ICD*s, cochlear
implants, breast tissue expanders and some other electronic implants or devices
and known claustrophobia.
* Current malignancy
* Pregnancy or lactating
* Other health issues whereby patients are not able to fulfil the study
protocol
* No written informed consent by the patient

Specific exclusion criteria for participating in the immunological part of the
study (patients excluded for the immunological part of the study can take place
in the other parts)
* Diabetes mellitus
* Patients currently using medicine affecting the immune system.
* Patients with a compromised immunity (e.g. HIV)

* Patients with a history of auto-immune disease (e.g. SLE, psoriasis, IBD)
* Use of statins the past year
* Use of systemic corticosteroids during more than two weeks in the past 5
years
* Previous treatment with chemotherapy and/or radiation therapy

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The study consists of three parts. Each part has it*s own main study<br /><br>parameters<br /><br>1. Clinical part: the results of the questionnaire study compared to<br /><br>standardizes normal values and the results of the comprehensive clinical<br /><br>assessment and creatinine kinase levels<br /><br>2. Imaging part: fatty infiltration and hypertrophy of proximal and axial<br /><br>muscles.<br /><br>3. Immunological part: circulating and leukocyte released anti- and<br /><br>pro-inflammatory cytokine levels compared to healthy age and sex matched<br /><br>controls. </p><br>

Secondary Outcome Measures