Establishing Clinical Trial Readiness for Children 0-5 Years With Congenital Muscular Dystrophy Secondary to LAMA2 Mutations (READY CMD LAMA2)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 44
- 试验地点
- 28
- 主要终点
- Validate the change over 24 months using the Bayley Scales of Infant and Toddler Development™ 4th Ed (BayleyTM-4)
研究概览
简要总结
The goal of this observational study is to understand how young children with LAMA2-related dystrophy move and change over time. We will also learn about how this condition impacts other body systems.
Participants will undergo:
- Neuromuscular assessments
- Blood collections
- Swallowing and breathing assessments
- Questionnaires
详细描述
READY CMD LAMA2 is a Pre-Phase 1, single-arm, multicenter, prospective natural history clinical study to evaluate the natural history and potential early outcome measures in subjects with laminin α2-related dystrophy (LAMA2-RD) aged 0-5 years. The study seeks to enroll 44 subjects across 14 sites. NCH will enroll 10 subjects.
Subjects will complete in-person visits at Baseline, Month 6, Month 12, Month 18, and Month 24. Within two weeks of the Baseline, Month 12, and Month 24 visits, a remote visit will be performed to repeat and compare remote outcomes with in-person outcomes. Remote visits only will also be performed at Month 3 and Month 9. Adverse events will be captured every three months, beginning at baseline. Phone calls will be made by the coordinator and/or other delegated study staff at months 3, 9, 15, and 21.
The total study duration for each subject is up to 24 months.
Physical assessments to be performed will depend on the subject's age and may include the following:
- Assessment of motor milestones (maintained, lost or acquired)
- Neuromuscular Gross Motor Outcome (GRO)
- Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND)
- Motor Function Measure (MFM-20)
- Bayley-4
- Respiratory assessments: capnography and collection of data on use of non- invasive ventilation and other respiratory support
- Physical exam
- Swallow/oromotor assessment: To be performed by physician, occupational therapist, speech language pathologist, or other licensed professional at the site.
- Muscle ultrasound may be performed at some sites.
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
- — 至 5 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Signed informed consent by the subject, parent(s) or legally authorized representative (LAR) and/or assent by the subject (when applicable).
- •Subject must be aged birth to less than 5.0 years of age at time of consent.
- •A confirmed diagnosis of LAMA2-RD confirmed via:
- •a: Two pathogenic variants in the LAMA2 gene (via a CLIA-approved laboratory) or: b. muscle biopsy with absence of merosin (laminin-211) and at least one pathogenic variant in the LAMA2 gene
- •Absence of another confirmed genetic disease.
- •Willingness to maintain current exercise and/or physical therapy regimen for the duration of the clinical study.
- •Willingness to comply with the study protocol, including but not limited to, all study procedures and visits.
排除标准
- •Acute medical illness or hospitalization within 30 days prior to informed consent.
- •Participation in a previous trial of any investigational agent for LAMA2-RD within 1 month prior to informed consent, or use of any other investigational therapy (including off-label use of Losartan) within 30 days prior to informed consent, or participation in other clinical studies, within 30 days (or 3 half-lives, whichever is longer) prior to informed consent, which in the opinion of the PI, may potentially confound results from this study.
- •Other significant medical condition, which in the opinion of the site Principal Investigator may confound interpretation of the clinical course of LAMA2- RD.
结局指标
主要结局
Validate the change over 24 months using the Bayley Scales of Infant and Toddler Development™ 4th Ed (BayleyTM-4)
时间窗: 24 months
The Bayley assess four areas of development: Gross Motor, Fine Motor, Speech and Language, and Social. These results are compared to typically developing children ages 15 days to 42 months. The entire assessment takes between 1 and 3 hours, with breaks.
Validate the change over 24 months using the World Health Organization motor milestones
时间窗: 24 months
A child will be asked to complete 6 items to assess attainment of gross motor milestones including sitting without support, crawling, standing, and walking with and without assistance.
Validate the change over 24 months using the Neuromuscular Gross Motor Outcome
时间窗: 24 months
The Neuromuscular GRO is a 50-item assessment that measures a child's gross motor function when lying down, sitting, crawling, walking, jumping, and climbing stairs.
Validate the change over 24 months using the Motor Function Measure Scale-Short Form
时间窗: 24 months
The MFM-20 contains 20 items to assess a child's motor function in sitting, lying down, standing, and completing tabletop activities.
Validate the change over 24 months using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders
时间窗: 24 months
The CHOP-Intend includes 16-items to measure a child's ability to move their body in a lying down position, supported sitting, and assisted rolling.
次要结局
未报告次要终点
研究者
Anne M. Connolly
Principle Investigator
Nationwide Children's Hospital