Active clinical trials for "Muscular Atrophy, Spinal"

Spinal muscular atrophy (SMA) is the leading genetic cause of death of infants. Strong preclinical evidence suggests that effective therapy must be delivered as early as possible to prevent progression of the disease. The primary study objective will be to identify prognostic and surrogate biomarkers of disease progression that will facilitate the execution of therapeutic SMA clinical trials in infants.

The investigators propose to prepare for clinical trials where SMA patients are asked to join the research effort. The visits will include questions, physical exam, blood drawing, and sometimes X-rays and a skin biopsy. The investigators will use modern computer methods to process the information during which the investigators will plan a clinical trial. Once the clinical trial begins, the investigators will offer SMA patients participation if they meet the criteria for that trial. Identifying an effective SMA treatment is very important because there is currently none. Clinical trials are the only way to decide whether a new treatment works in SMA patients or not.

Background: - Spinal muscular atrophy type 1 (SMA 1) causes severe muscle weakness and problems with eating and breathing. The symptoms begin in infancy, and children affected with SMA 1 often die in early childhood. Researchers want to collect information on how SMA symptoms progress in first two years. Objectives: - To study how the symptoms of SMA 1 progress in infants and children. Eligibility: - Infants and children with SMA 1 born on or after January 1, 2007. Design: Researchers will review the child s medical records and talk with parents by telephone. For children who are under 2 years of age, the researchers will review the child s medical records and speak with you on telephone every 2-4 months. Phone calls with parents will take about 10 minutes and will involve questions about symptoms of SMA 1. Children will be followed until age 2.- Researchers are also interested in looking at medical records of children who are no longer alive or who are more than 2 years of age. Parents or children do not have to come to the NIH. They will provide consent to view these records, and information over the telephone. - No treatment or care will be provided as part of this study.

Spinal muscular atrophy (SMA) is a motor neuron disorder caused by the absence of a functional survival of motor neuron 1, telomeric (SMN1) gene. Type I SMA, a lethal disease of infancy, accounts for the majority of cases. Newborn blood spot screening (NBS)to detect SMA has been implemented in public health laboratories in some countries already. In the UK dried blood spots are collected within a few days of birth on all babies and subsequent newborn screening is currently carried out for other diseases but not for SMA. The investigators would like to carry out a proof of principal testing to show that an assay for SMA can be carried out on these routinely collected dried blood spots (completely anonymised). The investigators would also run some known anonymised SMA positive dried blood spots. The aim is to demonstrate that a simple robust test can be used in a routine diagnostic laboratory to accurately screen for SMA. The investigators will not have access to identifiable data or samples for this project.

IO-SMA-Registry is a prospective, longitudinal and observational study which objective is to collect prospectively information on longevity, psychomotor development and respiratory function of patients with infantile-onset spinal muscular atrophy.

The purpose of this study is to assess carer burden, needs, and expectations of Spinal Muscular Atrophy Parents

The primary aim is to characterize the prevalence, severity and quality of musculoskeletal nociceptive pain in adult patients with neuromuscular disorders (NMD). The secondary objectives are to evaluate whether severity and distribution of muscle pain is associated with muscle function, and to assess whether muscle pain is associated with alterations of muscle elasticity and muscle stiffness. Results of patients with neuromuscular disorders will be compared to age- and gender-matched healthy volunteers. Approx. 70 patients with neuromuscular disorders and 20 healthy volunteers will be enrolled, including patients with the following neuromuscular disorders: histologically confirmed inclusion body myositis (IBM), genetically confirmed late-onset Pompe disease (LOPD), genetically confirmed spinal muscular atrophy type 3 (SMA3), genetically confirmed facio-scapulo-humeral muscle dystrophy (FSHD), genetically confirmed myotonic dystrophy type 1 or type 2 (DM1, DM2). The duration of patient recruitment will be around 12 months.

Medico-economic study of Newborn screening of Spinal Muscular Atrophy

This proposal will focus on (1) estimating oxidative capacity of specific muscle groups during exercise using near infrared spectroscopy and (2) describing body composition to better understand exercise capacity and mitochondrial function in ambulatory spinal muscular atrophy (SMA) patients and disease controls. It is a 6-month observational study including 14 ambulatory SMA patients, 14 ambulatory patients with mitochondrial myopathy, and 14 healthy controls.

This is a registry of individuals affected by Spinal Muscular Atrophy (SMA) and/or family members of individuals affected by SMA. The purpose of the registry is to allow researchers studying the biological basis of SMA and potential therapies in SMA access to individuals interested in participating in research and/or experimental therapies. The International SMA Patient Registry is supported by CureSMA.