Now Recruiting COL6 and LAMA2 Patients Ages 0-5 for Clinical Trial Readiness Studies!
Clinical trial readiness relies on establishing natural history and identifying outcome measures. In the COL6-related dystrophies (COL6-RDS) and the LAMA2-related dystrophies (LAMA2-RDs), natural history and outcome measures are well-defined in children 5 years of age and older. The NNDCS is thus focused on collecting natural history and outcome measures data in children with COL6-RD and children with LAMA2-RD from infancy through age 5 years.
Study visits consists of gathering clinical history, performing a neuromuscular examination, performing a muscle ultrasound and performing neuromuscular motor scale assessments. The collection of blood and urine samples for biomarker research can be performed (but is not mandatory) as part of study visits.
Participation in a natural history and outcome measures study will help to contribute to clinical trial readiness for COL6-RDs and LAMA2-RDs; however, participation is not a requirement for enrolling in future clinical trials for COL6-related dystrophies or LAMA2-related dystrophies.
For further information, please contact the NNDCS Clinical Coordinator:
The overall clinical and laboratory interests of the Section (NNDCS) focus on early onset neuromuscular disorders of childhood, on their genetic and molecular pathogenesis, the pathways involved, and on developing preclinical translational models to lead to actual clinical trials. In the clinical part of the NNDCS we are leveraging next generation genomic technology towards the diagnosis and gene discovery in children with complex neuromuscular and neurogenetic conditions, identifying new genetics entities as well as establishing phenotypic spectra and defining the natural history of selected genetic entities. NNDCS has contributed significantly to the knowledge about the genetic bases, natural history and outcome measures in the congenital muscular dystrophies and has initiated a first clinical trial in this patient group (using omigapil). Research in the NNDCS lab further focuses on the molecular pathogenesis of early onset muscle disorders using cellular and newly generated animal models, with the goal of defining opportunities for therapeutic interventions. A particular effort is devoted to gene editing approaches as well as RNA directed therapeutics directed at allele specific knockdown of dominantly acting mutations. We are also determining natural history and outcome measures in giant axonal neuropathy and in this condition have initiated the first intrathecal AAV9 mediated gene transfer trial in human.