Clinical trials: Muscle 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
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
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
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
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 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
Thymidine Kinase 2 (TK2)
A RETROspective Study of Patients With TK2d
This is a medical chart review study to collect information for patients who have been taking pyrimidine nucleosides for treatment of TK2 deficiency.
- Trial name
- RETRO (NCT03701568)
- Testing
- dC/dT
- Where
- 8 sites in United States, Israel and 1 more
- Volunteers
- 38 people
- Sponsor
- Zogenix MDS, Inc.
Postoperative Residual Curarization
Muscle Relaxants and Post-Anesthesia Complications
This Germany-wide, multi-center, epidemiologic study is designed to evaluate the incidence of post-operative/anesthesia effects of muscle relaxants (i.e.
- Trial name
- PORC (NCT00753389)
- Testing
- None (anesthesia)
- Where
- Germany
- Volunteers
- 20,000 people
- Sponsor
- Technical University of Munich
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
Cerebral Palsy
Orthosis to Improve Trunk Control in Infants Age 6-18 Months
The purpose of this study is to determine the impact of the SPIO® Core-MAX® Expedition orthosis on an infant's head, trunk and upper limb function.
- Trial name
- NCT06027580
- Testing
- SPIO® Core-MAX® Expedition thoracolumbosacral orthosis, Standard Care Therapy option
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Medical College of Wisconsin
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
Sugammadex
Effectiveness of Sugammadex on Muscle Relaxant Reversal in Preterm Neonates
The primary aim of the work is to compare the efficacy of Sugammadex and neostigmine in reversing rocuronium-induced muscle relaxation to reach complete recovery of neuromuscular block (TOF ratio≥ 0.9) in preterm neonates.
- Trial name
- NCT04566796
- Testing
- Sugammadex, Neostigmine
- Where
- Egypt
- Volunteers
- 60 people
- Sponsor
- Alexandria University
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
Cerebral Palsy, Traumatic Brain Injury
Effect of Trunk Support on Academic Engagement of Children With Severe Disability
This study evaluates the effect of optimizing trunk support based on segmental principles of trunk control, on academic engagement of children in academic settings.
- Conditions
- Cerebral Palsy, Traumatic Brain Injury, Metabolic Disease, Hypotonia
- Trial name
- NCT05391594
- Testing
- customized posture support
- Where
- 3 sites in United States
- Volunteers
- 10 people
- Sponsor
- University of Hartford
Hypothyroidism, Global Developmental Delay
Register for Patients With Thyroid Hormone Resistance.
Thyroid hormones (TH) play a pivotal role in the development and function of the mammalian brain. Patients with impaired thyroid hormone transport into the brain tissue or in the case of defective local thyroid hormone receptor…
- Conditions
- Hypothyroidism, Global Developmental Delay, Intellectual Disability, Dystonia
- Trial name
- DEEPTYPE (NCT06566066)
- Testing
- no intervention
- Where
- Germany
- Volunteers
- 200 people
- Sponsor
- Charite University, Berlin, Germany
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
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
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
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