Clinical trials: Hypotonia
Hypotonia Cystinuria Syndrome, Isolated PREPL Deficiency
Sulfamethoxazole for the Treatment of Primary PREPL Deficiency
The investigators will evaluate whether sulfamethoxazole, a sulfamide antibiotic, improves the symptoms of primary PREPL deficiency (hypotonia-cystinuria syndrome and isolated PREPL deficiency).
- Trial name
- SPPD (NCT02640443)
- Testing
- Sulfamethoxazole
- Volunteers
- 15 people
- Sponsor
- Universitair Ziekenhuis Brussel
Neurofibromatosis Type 1
Hypotonia and Neurofibromatosis Type 1 (NF1) Glioma
Currently, optic pathway gliomas (OPG) are detected based on abnormal findings made during annual ophthalmologic exams. However, because these exams are annual, it is possible for healthcare providers to miss the point at which a…
- Trial name
- NCT02584413
- Testing
- Magnetic resonance imaging, Gadolinium contrast
- Where
- United States
- Volunteers
- 29 people
- Sponsor
- Washington University School of Medicine
Epilepsy; Seizure, Neuromuscular Diseases
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family…
- Conditions
- Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability
- Trial name
- NCGENES2 (NCT03548779)
- Testing
- Pre-visit prep, usual care + exome seq
- Where
- 3 sites in United States
- Volunteers
- 548 people
- Sponsor
- University of North Carolina, Chapel Hill
Muscle Hypotonia, Down Syndrome
Assessment of Hypotonia in Children With Down Syndrome
Hypotonia is a common trait in infants with Down syndrome, resulting in pathologies and delays in gaining basic motor skills. There are no screenings available to aid in early diagnosis, therefore, the purpose of this study is to…
- Conditions
- Muscle Hypotonia, Down Syndrome, Muscle, Floppy, CHILD Syndrome
- Trial name
- NCT05131542
- Where
- Spain
- Volunteers
- 50 people
- Sponsor
- Universidad de Murcia
Preterm Birth
Hammock Positioning's Influence on the Electromyographic Activity in the Flexor Muscles in Newborn Preterm
The individual who is born premature, in addition to a CNS still in accelerated training suffers early loss of intrauterine restraint, conditions that promote hypotonia characteristic of premature birth.
- Trial name
- NCT02621996
- Testing
- hammock, containment nest
- Where
- Brazil
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Universidade Federal de Pernambuco
Floppy Infant
Patterns Of Floppy Infants Attending Assiut University Children Hospital
The Floppy Infant includes a variety of signs and symptoms: hypotonia, weakness and ligamentous laxity and increased range of joint mobility.
- Trial name
- NCT06183996
- Volunteers
- 50 people
- Sponsor
- Assiut University
Congenital Disorders of Glycosylation
Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
Background: Proteins, fats, and other molecules are the body s building blocks. Many of these molecules must have sugars, or chains of sugars, attached to work properly.
- Trial name
- NCT02089789
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Muscle Relaxants
The Effect of no Muscle Relaxant Versus Reduced-dose Rocuronium on Anesthesia in Adenotonsillectomy
This study aimed to compare the effect of no muscle relaxants and reduced-dose rocuronium on the anesthetic induction and emergence with fentanyl in children undergoing adenotonsillectomy.
- Trial name
- NCT02467595
- Testing
- Rocuronium bromide 0.15 mg kg-1, Rocuronium bromide 0.3 mg kg-1, Fentanyl
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Korea University Anam Hospital
Anesthesia Intubation Complication
Muscle Relaxants on Efficacy of LMA Insertion
The use of laryngeal mask airway (LMA) is increasing in pediatric anesthesia because it provides lesser direct mechanical stimulation of the airway due to being placed above the larynx.
- Trial name
- LMA_MR (NCT03487003)
- Testing
- rocuronium, saline
- Where
- South Korea
- Volunteers
- 128 people
- Sponsor
- Daegu Catholic University Medical Center
Infantile Spinal Muscular Atrophy
Test of Aquatic Mobility of SMA Infants
Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease impacting spinal cord motor neurons, leading to motor and respiratory issues and, ultimately, death.
- Trial name
- BAINSMA (NCT06152302)
- Testing
- Mobility study in dry conditions, Mobility study in water conditions
- Where
- France
- Volunteers
- 15 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Obstructive Sleep Apnea, Hypertonia, Muscle
Self-Supporting Nasopharyngeal Airway (ssNPA) Treating Upper Airway Obstruction in Hypotonia
The researchers are investigating if the Self-Supporting Nasopharyngeal Airway (ssNPA) device can be used in the treatment of obstructive sleep apnea in children with Hypotonic Upper Airway Obstruction (HUAO).
- Conditions
- Obstructive Sleep Apnea, Hypertonia, Muscle, Nasal Airway Obstruction, Tolerance
- Trial name
- NCT05527652
- Testing
- Self-Supporting Nasopharyngeal Airway (ssNPA)
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- University of Michigan
Neuromuscular Blockade
Myorelaxation Practice in Paediatric Anesthesia
In retrospective data search the investigators will identified the percentage of patients with muscle relaxants administered during perioperative period.
- Trial name
- PAMPE (NCT03086915)
- Testing
- Neuromuscular Blocking Agent
- Where
- Czechia
- Volunteers
- 1,650 people
- Sponsor
- Brno University Hospital
Pes Planus Down Syndrome Patients
Down Syndrome and Effects of Foot Muscle Exercise
Down syndrome (DS) is a common chromosomal pediatric disorder and accounts for approximately 8 % of all congenital anomalies. Children with DS experience delays in Cognitive, Physical, Speech and Language development.
- Trial name
- NCT05251935
- Testing
- Foot Muscle Exercise Protocol, Arch Support Insole and One Leg Balance Activities
- Where
- Pakistan
- Volunteers
- 47 people
- Sponsor
- Ziauddin University
Target Drug-related Adverse Events
Standard of Care Versus Urine Testing With Selective PHarmacogenomics for Effective Drug and Dosing REgimens
The purpose of this study is to determine whether the addition of selective pharmacogenomic (PGx) testing as determined by Urine Drug Testing (UDT) adds a clinical benefit as evidenced by a reduction in Target Drug-related…
- Trial name
- SPHERE (NCT02625155)
- Testing
- Urine diagnostic testing as SOC, drug regimen changes per SOC, Urine diagnostic testing with selective PGx testing, drug regimen changes based on PGx test results
- Where
- United States
- Volunteers
- 14,000 people, healthy volunteers welcome
- Sponsor
- InSource Diagnostics
Hypotonia
Osteopathic Treatment on Motor Development of Hypotonic Infants.
Interventional study involving the human at risk and minimal constraint (RIPH2), randomized single-blind comparing the impact of osteopathic treatment on the axial tone of the hypotonic infant versus simulation
- Trial name
- HYPOSTEO (NCT03852004)
- Testing
- ostheopathy, simulated osteopathic treatment
- Where
- 2 sites in France
- Volunteers
- 40 people
- Sponsor
- Centre Hospitalier Intercommunal Creteil
Neurodevelopmental Disorders, Intellectual Disability
Longitudinal Study of Neurogenetic Disorders
The purpose of this study is to analyze patterns in individuals with hnRNP (and other) genetic variants, including their neurological comorbidities, other medical problems and any treatment.
- Conditions
- Neurodevelopmental Disorders, Intellectual Disability, Developmental Delay, Autism Spectrum Disorder
- Trial name
- NCT03492060
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Columbia University
CLIFAHDD, Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
Aprepitant for the Treatment of CLIFAHDD
There are no drug treatments for individuals with Congenital Contractures of the Limb and Face, Hypotonia, and Developmental Delay (CLIFAHDD), an ultra-rare and severe neurodevelopmental disease.
- Conditions
- CLIFAHDD, Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay, NALCN Channelopathy, Ataxia - Other
- Trial name
- NCT07845825
- Testing
- Aprepitant Powder for Oral Suspension
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- The University of Texas Health Science Center at San Antonio
Sleep Apnea, Obstructive, Hypotonia
Pilot Study of a Self-Supporting Nasopharyngeal Airway in Hypotonia
Children with hypotonic upper airway obstruction have a high prevalence of severe obstructive sleep apnea, which if not treated has significant clinical consequence.
- Conditions
- Sleep Apnea, Obstructive, Hypotonia, Child, Only
- Trial name
- ssNPA (NCT04846400)
- Testing
- ssNPA
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- University of Michigan
Muscle Tone Poor, Spinal Muscular Atrophy
Myotonometer Intra- and Inter Examiner Reliability on Spinal Muscular Atrophy
The primary aim of the study was to measure the intra-rater and inter-rater reliability of MyotonPRO in measuring postural muscle tone and mechanical properties in individuals with spinal muscular atrophy (SMA).
- Trial name
- NCT05521217
- Testing
- MyotonPRO
- Where
- 2 sites in Turkey (Türkiye)
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Istanbul Medipol University Hospital
Hypotonia-Cystinuria Syndrome, Muscle Hypotonia
PREPL in Health and Disease
Evaluation of PREPL activity in healthy controls and known or possible PREPL deficient patients
- Conditions
- Hypotonia-Cystinuria Syndrome, Muscle Hypotonia, Healthy Volunteers, Dwarfism, Growth Hormone Deficiency
- Trial name
- PHD (NCT02263781)
- Testing
- Blood draw, muscle biopsy
- Where
- Belgium
- Volunteers
- 125 people, healthy volunteers welcome
- Sponsor
- Universitaire Ziekenhuizen KU Leuven