A Multicentre, Prospective, Longitudinal and Observational Natural History Study for Patients With Nemaline Myopathy in the United Kingdom: NatHis-NM-MDUK

University of Oxford8 个研究点分布在 1 个国家目标入组 45 人2024年10月7日

适应症Nemaline Myopathy

概览

阶段: 不适用
干预措施: Nemaline myopathy patients
疾病 / 适应症: Nemaline Myopathy
发起方: University of Oxford
入组人数: 45
试验地点: 8
主要终点: To observe the natural clinical progression of NM in patients not receiving any disease-modifying intervention
状态: 进行中（未招募）
最后更新: 19天前

概览研究者入排标准研究组 & 干预措施结局指标研究点相似试验

概览

简要总结

The goal of this study is to to learn more about what assessments would be useful to measure for NM and what normally happens during the lives of people with NM to support future clinical trial development.

详细描述

Current treatments for people living with nemaline myopathy are supportive only. Several potential therapies are in development which may be available in the next 5-10 years. The barrier to these becoming available is that there is little data available on the natural progression (natural history) of nemaline myopathy. This means that it would be difficult to do a clinical trial of a treatment because it is not known which assessments would be useful to measure or what normally happens during the lives of people with NM.This study aims to better define the natural history and disease specific outcome measures and biomarkers. This study will comprehensively evaluate the natural clinical progression of the disease using medical data and examination findings, scales and questionnaires for the assessment of motor function, breathing, swallow function and Quality of life and fatigue. In addition it will collect data on continuous movement and gait analysis using real world data and wearable sensors (Syde and Maiju), blood samples for future genetic and proteomic analysis and respiratory analysis using ventilatory and thoraco-abdominal pattern for paediatric participants.

注册库

clinicaltrials.gov

开始日期

2024年10月7日

结束日期

2029年8月1日

最后更新

19天前

研究类型

Observational

性别

All

研究者

发起方

University of Oxford

责任方

Sponsor

入排标准

入选标准

•Patient and/or parent or legal guardian must be willing and have the ability to provide written informed consent for participation in the study.
•Male or Female
•Diagnosis of NM which in most cases includes having a disease-causing variant/s in one of the known NM causative genes and a consistent clinical phenotype.

排除标准

•Any confirmed chronic or acute condition or disease affecting any system(s), which could interfere with the results of the study and/or the compliance with the study procedures. This will be subject to the clinical judgement of the Chief Investigator (CI) and/or the Principal Investigator (PI).
•Clinically significant medical finding on the physical examination other than NM that, in the judgment of the Investigator, will make the patient unsuitable for participation in, and/or completion of the study procedures.
•Participants of ongoing (interventional) clinical trials that assess the efficacy of potential treatments will be excluded as assessments need to be done on the basis that represent the natural progression of NM.
•Safety concerns. This includes anything that might put the participant and/or their Parent(s) or Guardian(s) at risk through participating in the study potentially including but not limited to: Safeguarding concerns, Social Issues and Health issues.

研究组 & 干预措施

Nemaline myopathy patients

Patients of any age and ability with a genetic and clinical diagnosis of Nemaline myopathy with no significant comorbidities. All patients will be evaluated for the natural clinical progression of the disease using scales and questionnaires for the assessment of motor function, breathing, swallow function and Quality of life and fatigue. In addition it will collect data on continuous movement and gait analysis using real world data and wearable sensors (Syde and Maiju), blood samples for future genetic and proteomic analysis and respiratory analysis using ventilatory and thoraco-abdominal pattern for some paediatric participants.