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

Radboud Universitair Medisch Centrum0 个研究点目标入组 60 人开始时间: 待定最近更新: 2024年4月15日

试验速览

暂无简介。

•* 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
•* 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
•* Previous treatment with chemotherapy and/or radiation therapy

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