Reliability and Validity of the Turkish Version of the PedsQL 3.0 Neuromuscular Module for 2-to...
Spinal Muscular AtrophyQuality of Life2 moreThe aim of the investigator's study was to investigate translating the PedsQL 3.0 Neuromuscular Module for 2-to 4- Year-old and using it in clinics reliably and validity with a Turkish version of the PedsQL Generic Core (Pediatric Quality of Life Questionnare) in children with Spinal Muscular Atrophy in Turkey
Phenotype, Genotype & Biomarkers in ALS and Related Disorders
Amyotrophic Lateral SclerosisFrontotemporal Dementia4 moreThe goals of this study are: (1) to better understand the relationship between the phenotype and genotype of amyotrophic lateral sclerosis (ALS) and related diseases, including primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA), and frontotemporal dementia (FTD); and (2) to develop biomarkers that might be useful in aiding therapy development for this group of disorders.
An Open Label Study of LMI070 (Branaplam) in Type 1 Spinal Muscular Atrophy (SMA)
Spinal Muscular AtrophyAn open-label, multi-part, first-in-human study of oral branaplam in infants with Type 1 spinal muscular atrophy. The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD) and efficacy after 13 weeks; and to estimate the Maximum Tolerated Dose (MTD) of orally administered branaplam; and to identify the dose that is safe for long term use as well as that can provide durable efficacy optimal dosing regimen in patients with Type 1 SMA.
Single-Dose Gene Replacement Therapy Using for Patients With Spinal Muscular Atrophy Type 1 With...
Spinal Muscular Atrophy Type IThis is a Phase 3, open-label, single-arm, single-dose, trial of onasemnogene abeparvovec-xioi (gene replacement therapy) in participants with spinal muscular atrophy (SMA) Type 1 and who are genetically defined by a biallelic pathogenic mutation of the survival motor neuron 1 gene (SMN1) with one or two copies of survival motor neuron 2 gene (SMN2). The primary objective of the study is to evaluate the efficacy of onasemnogene abeparvovec-xioi by assessing the proportion of symptomatic SMA Type 1 participants who achieve the ability to sit unaided for at least 10 seconds up to and including the 18 months of age trial visit. At least 6 participants aged < 6 months (< 180 days) at the time of gene replacement therapy (Day 1) will be enrolled.
Pre-Symptomatic Study of Intravenous Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy (SMA)...
Spinal Muscular AtrophyTo evaluate the safety and efficacy of intravenous onasemnogene abeparvovec-xioi in pre-symptomatic patients with SMA and 2 or 3 copies SMN2
Safety and Efficacy of Intravenous OAV101 (AVXS-101) in Pediatric Patients With Spinal Muscular...
Muscular AtrophySpinalTo evaluate the safety, tolerability and efficacy of intravenous administration of OAV101 (AVXS-101) in patients with SMA with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene ≤ 24 months and weighing ≤ 17 kg, over a 18-month period post infusion.
Public AttitudesTowards SMA and DMD Awareness, Newborn and Carrier Screening and Physiotherapy Practices...
Spinal Muscular AtrophyDuchenne Muscular Dystrophy1 moreThe addition of SMA and DMD muscle diseases to newborn screening and premarital carrier screening has been controversial. In this study, researchers aim to measure the awareness level of SMA and DMD muscle diseases of individuals living in Turkey and to obtain information about their attitudes towards newborn and carrier screening and physiotherapy practices. Thus, this study aimed to determine the factors that affect people's views on this subject.
A Study to Assess the Efficacy, Safety and Pharmacokinetics of Nusinersen (ISIS 396443) in Infants...
Spinal Muscular AtrophyThe primary objective is to examine the clinical efficacy of multiple doses of nusinersen (ISIS 396443) administered intrathecally to participants with Infantile-Onset Spinal Muscular Atrophy (SMA). The secondary objectives are to examine the safety and tolerability of multiple doses of nusinersen administered intrathecally to participants with infantile-onset SMA and to examine the cerebral spinal fluid (CSF) and plasma Pharmacokinetics (PK) of multiple doses of nusinersen administered intrathecally to participants with infantile-onset SMA.
Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1
Spinal Muscular Atrophy 1The purpose of this trial is to evaluate safety and efficacy of intravenous delivery of AVXS-101 as a treatment of spinal muscular atrophy Type 1 (SMN1).
Progressive Strength Training in Spinal Muscular Atrophy
Muscular AtrophySpinalThe proposed feasibility study is necessary to test if children and young adults will participate in and adhere to a 12-week, home-based, supervised progressive strength training exercise program and to obtain preliminary data that will subsequently allow us to determine the safety and impact of strength training in spinal muscular atrophy. Our pilot study will address 3 aims: (1) Ascertain the feasibility of, and potential barriers to, participation in and adherence to a 12-week home-based, supervised, progressive strength training exercise program in children and young adults aged 5-21 years with SMA types II and III; (2) Determine the safety and tolerability of progressive strength training in a pilot study sample of children and young adults with SMA types II and III; and (3) Determine candidate outcome measures.