跳至主要内容
临床试验/NCT06390566
NCT06390566进行中(未招募)不适用

Evolution of the Functional and Muscular State and Quality of Life of Patients With Limb-girdle Muscular Dystrophy 2A: CALNATHIS Prospective Cohort Study

Assistance Publique - Hôpitaux de Paris1 个研究点 分布在 1 个国家目标入组 25 人开始时间: 2024年5月28日最近更新:
适应症

试验速览

阶段
不适用
状态
进行中(未招募)
入组人数
25
试验地点
1
主要终点
Evaluation of the loss of strength of muscle groups in patients with LGMD2A

研究概览

简要总结

Limb girdle muscular dystrophies were originally defined as a postnatal progressive muscle disease, which begins and primarily affects the pelvic and scapular muscles.

详细描述

Intro:

Limb girdle muscular dystrophies were originally defined as a postnatal progressive muscle disease, which begins and primarily affects the pelvic and scapular muscles.

To be considered a form of limb-girdle muscular dystrophy, according to the European Neuromuscular Center, the condition must be described in at least two unrelated families with affected individuals achieving independent walking, must have elevated serum creatine kinase activity, must demonstrate degenerative changes on muscle imagery over the course of the disease, and must exhibit dystrophic changes on muscle histology, ultimately leading to end-stage pathology for the most affected muscles.

They are classified into dominant forms (LGMD 1, old nomenclature; LGMD D, new nomenclature) and recessive forms (LGMD 2, old nomenclature; LGMD R new nomenclature). Recessive forms predominate in terms of number of subtypes and individual prevalence, with regional variations due to founder effects in some cases (Murphy et al, 2015).

Individually, distinct subtypes of LGMD are relatively rare; however, as a group, the minimum prevalence of LGMD is probably between 2.27 per 100,000 and 10 per 100,000. In Europe and the United States, calpainopathies, also called LGMD R1 or LGMD-2A (OMIM 253600 ), are the most common of the different types of LGMD, accounting for up to 30% of all cases of recessive LGMD.

研究设计

研究类型
Observational
观察模型
Cohort
时间视角
Prospective

入排标准

年龄范围
18 Years 至 —(Adult, Older Adult)
性别
All
接受健康志愿者

入选标准

  • Confirmed diagnosis of autosomal recessive LGMD2A (two pathogenic mutations in the calpain 3 gene)
  • Ability to participate in the tests and examinations planned by the study (manual muscle tests, motor scales)
  • Informed and having signed a consent form
  • Affiliate to a social security scheme in France (beneficiary or entitled person).

排除标准

  • Patient with another disease likely to significantly interfere with the interpretation of the natural history of LGMD2A
  • Participant in a clinical trial with an investigational product within 3 months preceding inclusion
  • Patient unable or unwilling to comply with protocol requirements
  • Patient under guardianship, curatorship or legal protection
  • Pregnant or breastfeeding woman
  • Patient deprived of liberty
  • Adult patient unable to express consent
  • Refusal to participate

结局指标

主要结局

Evaluation of the loss of strength of muscle groups in patients with LGMD2A

时间窗: 2 years

identify and quantify the loss of strength of upper and lower limb muscle groups in patients with LGMD2A

次要结局

未报告次要终点

研究者

申办方类型
Other
责任方
Sponsor

研究点 (1)

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