A study of the in-vitro thermal stability of the ryanodine receptor-1 in patients with RYR1 variants
- Conditions
- Muscle breakdownrhabdomyolysis10028396
- Registration Number
- NL-OMON50003
- Lead Sponsor
- Canisius Wilhelmina Ziekenhuis
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 20
Inclusion criteria RYR1 patients
* Genetically proven RYR1 variant
* Indication for an IVCT in the context of routine clinical care
* Age 18 * 65 years old
Inclusion critera healthy controls
* Indication for surgery of the upper leg in the context of routine clinical
care, e.g. removal of osteosynthesis material or elective orthopaedic surgery
of the upper leg.
* Age 18 * 65 years old
Exclusion criteria RYR1 patients
* Another family member is included in the study
* An MH reaction, EHS, ER, compartment syndrome, ischaemia of the lower
extremities, trauma of the upper legs or rhabdomyolysis due to another
aetiology in the past 4 months.
* A viral infection in the past week
* Other neuromuscular disorders than RYR1 related MH/ER/EHS
* Patients using systemic corticosteroids during the last 3 months
* Pregnancy or lactating
* No written informed consent by the patient
Exclusion criteria healthy controls
* A history of a RYR1 variant
* Another family member is included in the study
* A history or a family history of a RYR1 related disease (MH, EHS, ER, central
core disease, multi-minicore disease)
* A history of a neuromuscular disorder
* Patients using systemic corticosteroids during the last 3 months
* Patients with a current compartment syndrome, planned for fasciotomy
* Patients with current ischaemia of the lower extremities with an indication
for vascular surgery or amputation.
* Patients with current trauma of the upper legs and an indication for surgery.
* A compartment syndrome, ischaemia of the lower extremities, trauma of the
upper legs or rhabdomyolysis due to another aetiology in the past 4 months.
* A viral infection in the past week.
* Pregnancy or lactating
* No written informed consent by the patient
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>The primary endpoint of the study is the number of positive IVCT*s in the<br /><br>extended protocol in the RYR1 group compared to the healthy control group. </p><br>
- Secondary Outcome Measures
Name Time Method <p>Secondary endpoints of the study are the concentration of caffeine and<br /><br>halothane leading to a pathological contracture in the extended IVCT in the<br /><br>RYR1 group compared to the healthy controls. Other secondary endpoints are the<br /><br>results of a questionnaires study focused on neuromuscular and heat intolerance<br /><br>complains during exercise and a family history of EHS.</p><br>