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

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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON50075

Enrollment

Registered

2020-07-07

Start date

2020-08-19

Completion date

Unknown

Last updated

2024-04-15

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Muscle breakdown by exercise and high body temperature by anesthetics

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

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

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

Design outcomes

Primary

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

Measure

Time frame

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

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Countries

Netherlands

Outcome results