Active clinical trials for "Muscular Atrophy, Spinal"

In this project, we will establish the efficient and accurate gene dose determination system by combining the heterodulex analysis and gene dose analysis on DHPLC platform based on various quantitative and multiplex PCR strategies and applying on detecting the carriers- in- risk and patients with spinal muscular atrophy.This method is, therefore, based on the observation that the amount of PCR product generated from each site of amplification is proportional to the amount of starting template. Detection of PCR products is carried out on DHPLC, which provide the sensitivity required for the detection of the single-copy dosage changes.

The purpose of this study is to collect blood samples to enable validation of genetic testing for diseases within a multi-disease carrier screening panel. Samples will be collected from adult women or men who have previously tested positive as carriers for various recessive conditions. These are healthy adults who carry a mutation that might place them at increased risk of having a child with a specific genetic disorder. Study participation will be open to adults that were previously tested as part of their routine medical care and where test results demonstrated positive carrier status for a specific genetic disease. Samples will be tested for the disease mutation for which the subjects provides documentation of prior testing.

To provide access to nusinersen to eligible patients with Infantile-onset Spinal Muscular Atrophy (SMA) (consistent with Type 1) to address a high-unmet medical need.

This expanded access program (EAP) will provide access to risdiplam for eligible participants with Type 1 or Type 2 spinal muscular atrophy (SMA) before it is commercially available in the United States for the indication of SMA.

The purpose of this Cohort Treatment Protocol will allow access to AVXS-101 for eligible patients diagnosed with SMA.

Our aim is to establish multi-center national Egyptian database of information for inherited and acquired neuromuscular diseases in infants and children from 0 to 18 years of age.

Spinal muscular atrophy (SMA) prenatal carrier screening is recommended by American College of Medical Genetics (ACMG) and American College of Obstetrics and Gynecology (ACOG). However, in Thailand, there are no standard protocol for SMA prenatal carrier screening.

In this, here we want to present a new method for analysis variation in gene copy number for patients and carriers of SMA. This is a relative quantitation method and, therefore, relies on the inclusion of one or more internal control or reference sequences; quantitation of DNA is relative to this reference sequence of known copy number. A peak height from within a potentially duplicated or deleted target region is amplified simultaneously with a disomic reference region in a multiplex PCR system.

The Motor Function Measure (MFM), a reliable tool assessing motor function and its progression in most neuromuscular diseases, is widely used in France in many teams. It can be used regardless of the severity of the motor impairment or the ambulatory status of the patient, allowing its use throughout the whole follow-up period of the patient, even in case of the loss of walking. Two versions of the MFM exist, one composed of 32 items validated for patients from 6 years old (MFM-32) and a shorter version composed of 20 items validated for patients between 2 and 6 years old (MFM-20). In order to show the possible use of MFM-20 as early as the age of 2 years to validly and reliably monitor the evolution of the motor function of children treated with Nusinersen, we propose in this project to study the sensitivity to treatment-induced change of MFM-20 and the validity of the scale in this population.

Spinal Muscular Atrophy (SMA) is neurodegenerative disease of anterior horn cells of spinal cord and represents the second more frequent pathology in childhood. According to the age of onset and the maximum motor function the disorder is classified in 4 types. Patients with SMA II and SMA III often use orthoses to achieve postural and dynamic functions. In this retrospective observational study the investigators describe the characteristics of sitting position, standing and walking correlated to type and time of orthoses used.