Clinical trials: Spinal Muscular Atrophy Type I
EEG Sleep Spindles, Motor Outcome
Sleep Spindles Organization as an Early Neural Marker of Neuromotor Outcome
The goal of this observational study is to test the effectiveness of quantitative early biomarkers in the sleep electroencephalogram (EEG), namely sleep spindles, as predictors of early sensorimotor maturation and long-term motor…
- Conditions
- EEG Sleep Spindles, Motor Outcome, Cerebral Palsy, SMA1
- Trial name
- SONNO (NCT06256887)
- Where
- 3 sites in Italy
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- IRCCS Fondazione Stella Maris
Spinal Muscular Atrophy
Prospective Evaluation of Infants With Spinal Muscular Atrophy:
SPOT SMA is a prospective NIH-supported clinical study targeting pre-symptomatic or recently diagnosed infants and children with Spinal Muscular Atrophy (SMA) types 1, 2, or 3 and their healthy control siblings less than 36…
- Trial name
- SPOTSMA (NCT02831296)
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Spinal Muscular Atrophy
A Pilot Study of Biomarkers for Spinal Muscular Atrophy
The goal of this pilot study is to identify a marker or panel of markers in the blood or urine from a wide range of Spinal Muscular Atrophy (SMA) patients that segregates with measures of clinical severity.
- Trial name
- BforSMA (NCT00756821)
- Where
- 18 sites in United States, Canada
- Volunteers
- 130 people, healthy volunteers welcome
- Sponsor
- Carelon Research
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Spinal Muscular Atrophy Type I, Scoliosis
The Effect of Spinal Orthosis on the Development of Scoliosis and Chest Deformity in Type I Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a serious neuromuscular disease characterized by the degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle atrophy and denervation.
- Conditions
- Spinal Muscular Atrophy Type I, Scoliosis, Chest Deformities, Spinal Orthosis
- Trial name
- NCT05878418
- Testing
- Thoracolumbosacral Spinal Orthosis (TLSO), Trunk Exercise (TE), Pulmonary Rehabilitation(PR) and Pulmonary Care (PC)
- Where
- Turkey (Türkiye)
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Medipol University
Non Invasive Prenatal Diagnosis
NIPD on CFTC for Triplet Repeat Diseases
The purpose of this study is to develop and validate an analytical and clinical NIPD test for triplet repeat diseases by isolated circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the…
- Trial name
- DIACCIMEX (NCT03087526)
- Testing
- Non invasive prenatal diagnosis
- Where
- 8 sites in France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier