Clinical trials: Merosin Deficient Congenital Muscular Dystrophy, active
Merosin Deficient Congenital Muscular Dystrophy
Natural History Study of Children With LAMA2-related Dystrophies
The goal of this natural history study is to characterize the disease course, characteristics in paediatric population of LAMA2-RD (related dystrophies) patients.
- Trial name
- LAMA2 (NCT06354790)
- Testing
- Motor evaluations, Cognitive assessment, Pulmonary function test
- Where
- 4 sites in France
- Volunteers
- 40 people
- Sponsor
- Institut de Myologie, France
LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)
Preclinical Assessment of an Engineered HMGB1 Protein as a Novel Companion Therapy for Muscular Dystrophies
This is a monocentric, no-profit, retrospective and prospective observational cohort study conducted at IRCCS Ospedale San Raffaele. The study does not entail any additional procedures or interventions for participants.
- Trial name
- HEAL-MD (NCT07745218)
- Where
- Italy
- Volunteers
- 25 people
- Sponsor
- IRCCS San Raffaele
LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A), LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\)
Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers
The goal of this observational study is to learn about the natural history and multi-organ involvement of Laminin-Alpha-2-Related Dystrophy (LAMA2-RD) in pediatric and adult patients.
- Conditions
- LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A), LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\), Merosin Deficient CMD (Full or Partial), Merosin Deficient Congenital Muscular Dystrophy
- Trial name
- NCT07125040
- Testing
- Cardiac MRI
- Where
- Italy
- Volunteers
- 45 people
- Sponsor
- Università Vita-Salute San Raffaele
Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle…
- Conditions
- Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)
- Trial name
- CMDPROS (NCT01403402)
- Where
- United States
- Volunteers
- 4,000 people
- Sponsor
- Cure CMD
LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A), Merosin Deficient CMD (Full or Partial)
Spanish Natural History Study for LAMA2 Muscular Dystrophy
The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of LAMA2-related dystrophies (LAMA2-RD) in the pediatric population.
- Conditions
- LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A), Merosin Deficient CMD (Full or Partial), Merosin Deficient Congenital Muscular Dystrophy, Muscular Dystrophies
- Trial name
- NCT06924125
- Testing
- Motor function scales, MUSCLE ULTRASOUND, Muscle Elastography
- Where
- Spain
- Volunteers
- 100 people
- Sponsor
- Hospital Universitari Vall d'Hebron Research Institute
LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\)
Observation Study in Patients Age 0-5 Years With LAMA2-related Congenital Muscular Dystrophy
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.
- Trial name
- NCT06503367
- Where
- 14 sites in United States
- Volunteers
- 44 people
- Sponsor
- Nationwide Children's Hospital