National Institutes of Health Clinical Center (CC) — Biomedical Watch V2

Traitements8programmes

Essais4liés

Publications7liées

SourceDBlocale

Traitements

8

Molécule	Indication / population	Phase	Objectif	Pays	Résultat
A Natural History Study of RYR1-Related DisordersBackground: Congenital myopathies (CM) are genetic disorders that can cause decreased muscle tone and muscle weakness. Most CMs in the United States are related to the ryanodine receptor 1 (RYR1) gene. Researchers need more natural history data to learn about these CMs in children and adults. Objective: To learn more about the signs, symptoms, and course of RYR1-related disorders. Eligibility: People aged 7 years and older with an RYR1-related disorder. Design: Ambulatory participants will come to the Clinical Center and non-ambulatory participants will visit via telehealth. Visits will be once a year for 3 or 5 years. Clinical Center visits will take 2 to 3 days. All participants will undergo tests including: Photos and videos. These will be taken to document the participant s condition. Blood and urine tests. Activity Tracker. Participants will wear a device to record their activity. Questionnaires. Participants will answer questions about their health, pain, fatigue, stress, quality of life, and other topics. Participants who visit the Clinical Center will also undergo: Tests of heart and lung function. Motor skills and strength tests. Participants will walk, climb stairs, kneel, crawl, stand up, and perform other movements to test their strength and abilities. They will squeeze and pinch a handheld device to test their grip. Imaging scans. Skin biopsy. Adult participants may opt to have a sample of skin taken (one time only). Eye exam	Myopathies	À vérifier	Traitement symptomatique	United States	À vérifier
EA-KAFOBackground: \- Cerebral palsy (CP) is the most common motor disorder in children. CP often causes crouch gait, an abnormal way of walking. Knee crouch has many causes, so no single device or approach works best for everybody. This study s adjustable brace provides many types of walking assistance. Researchers will evaluate brace options to find the best solution for each participant, and whether one solution works best for the group. Objective: \- To evaluate a new brace to improve crouch gait in children with CP. Eligibility: * Children 5 17 years old with CP. * Healthy volunteers 5 17 years old. Design: * All participants will be screened with medical history and physical exam. * Healthy volunteers will have 1 visit. They will do motion analysis, EMG, and EEG described below. * Participants with CP will have 6 visits. * Visit 1: \<TAB\>1. Motion analysis: Balls will be taped to participants skin. This helps cameras follow their movement. \<TAB\>2. EMG: Metal discs will be taped to participants skin. They measure electrical muscle activity. \<TAB\>3. Participants knee movement will be tested. \<TAB\>4. Participants will walk 50 meters. \<TAB\>5. Participants legs will be cast to make custom braces. * Visit 2: * Participants will wear their new braces and have them adjusted. * Steps 1 3 will be repeated. * EEG: Small metal discs will be placed on the participants scalp. They record brain waves. * Participants will have electrical stimulation of their knees and practice extending them. * Participants will take several walks with the braces in different settings. * Visits 3 5: participants will repeat the walking and some other steps from visit 2. * Visit 6 will repeat visit 2.	Myopathies	Non applicable	À vérifier	United States	À vérifier
Extension assist knee ankle foot orthosis (EA-KAFO)People with cerebral palsy (CP), muscular dystrophy (MD), spina bifida, or spinal cord injury often have muscle weakness, and problems moving their arms and legs. The NIH designed a new brace device, called an exoskeleton, that is worn on the legs and helps people walk. This study is investigating new ways the exoskeleton can be used in multiple settings while performing different walking or movement tasks, which we call ubiquitous use. For example, we will ask you to walk on a treadmill at different speeds, walk up and down a ramp, or walk through an obstacle course. Optionally, the exoskeletons may also use functional electrical stimulation (FES), a system that sends electrical pulses to the muscle to help it move the limb.	Myopathies	À vérifier	À vérifier	United States	À vérifier
Magnetic Resonance Imaging for Evaluating Kidney FunctionRenovascular hypertension (RVH) is a potentially curable disease affecting 0.5-5 percent of patients with hypertension. The current diagnostic work-up of RVH involves a complex algorithm which includes doppler ultrasound, captopril renography and conventional angiography. Because of the expense, risk and inconvenience of this workup, patients may not be correctly diagnosed. Advances in MR technology present the opportunity to develop a single comprehensive test. This would combine an MR angiogram that provides anatomic information about the renal arteries, and an MR renogram that provides information about the functional impact of a stenosis as a cause of hypertension. Our main purpose is to test MR renography with and without an oral angiotensin converting enzyme inhibitor (ACEI) combined with MR angiography against the reference standard of captopril radionuclide renography. Secondary goals of this study are to test whether hypoxia within ischemic kidneys affected by RVH is detectable by T2 weighted (Blood oxygen level dependent or BOLD) MRI. This is considered of value since such a test of oxygenation would further shorten and simplify the diagnostic MR test. Information gained from this study could lead to important changes in the diagnostic and pathophysiologic understanding of RVH.	Hypertension	À vérifier	À vérifier	United States	À vérifier
Magnetic Resonance Imaging for Evaluating Kidney FunctionRenovascular hypertension (RVH) is a potentially curable disease affecting 0.5-5 percent of patients with hypertension. The current diagnostic work-up of RVH involves a complex algorithm which includes doppler ultrasound, captopril renography and conventional angiography. Because of the expense, risk and inconvenience of this workup, patients may not be correctly diagnosed. Advances in MR technology present the opportunity to develop a single comprehensive test. This would combine an MR angiogram that provides anatomic information about the renal arteries, and an MR renogram that provides information about the functional impact of a stenosis as a cause of hypertension. Our main purpose is to test MR renography with and without an oral angiotensin converting enzyme inhibitor (ACEI) combined with MR angiography against the reference standard of captopril radionuclide renography. Secondary goals of this study are to test whether hypoxia within ischemic kidneys affected by RVH is detectable by T2 weighted (Blood oxygen level dependent or BOLD) MRI. This is considered of value since such a test of oxygenation would further shorten and simplify the diagnostic MR test. Information gained from this study could lead to important changes in the diagnostic and pathophysiologic understanding of RVH.	Hypertension	À vérifier	À vérifier	United States	À vérifier
Extension assist knee ankle foot orthosis (EA-KAFO)People with cerebral palsy (CP), muscular dystrophy (MD), spina bifida, or spinal cord injury often have muscle weakness, and problems moving their arms and legs. The NIH designed a new brace device, called an exoskeleton, that is worn on the legs and helps people walk. This study is investigating new ways the exoskeleton can be used in multiple settings while performing different walking or movement tasks, which we call ubiquitous use. For example, we will ask you to walk on a treadmill at different speeds, walk up and down a ramp, or walk through an obstacle course. Optionally, the exoskeletons may also use functional electrical stimulation (FES), a system that sends electrical pulses to the muscle to help it move the limb.	Myopathies	À vérifier	À vérifier	United States	À vérifier
EA-KAFOBackground: \- Cerebral palsy (CP) is the most common motor disorder in children. CP often causes crouch gait, an abnormal way of walking. Knee crouch has many causes, so no single device or approach works best for everybody. This study s adjustable brace provides many types of walking assistance. Researchers will evaluate brace options to find the best solution for each participant, and whether one solution works best for the group. Objective: \- To evaluate a new brace to improve crouch gait in children with CP. Eligibility: * Children 5 17 years old with CP. * Healthy volunteers 5 17 years old. Design: * All participants will be screened with medical history and physical exam. * Healthy volunteers will have 1 visit. They will do motion analysis, EMG, and EEG described below. * Participants with CP will have 6 visits. * Visit 1: \<TAB\>1. Motion analysis: Balls will be taped to participants skin. This helps cameras follow their movement. \<TAB\>2. EMG: Metal discs will be taped to participants skin. They measure electrical muscle activity. \<TAB\>3. Participants knee movement will be tested. \<TAB\>4. Participants will walk 50 meters. \<TAB\>5. Participants legs will be cast to make custom braces. * Visit 2: * Participants will wear their new braces and have them adjusted. * Steps 1 3 will be repeated. * EEG: Small metal discs will be placed on the participants scalp. They record brain waves. * Participants will have electrical stimulation of their knees and practice extending them. * Participants will take several walks with the braces in different settings. * Visits 3 5: participants will repeat the walking and some other steps from visit 2. * Visit 6 will repeat visit 2.	Myopathies	Non applicable	À vérifier	United States	À vérifier
A Natural History Study of RYR1-Related DisordersBackground: Congenital myopathies (CM) are genetic disorders that can cause decreased muscle tone and muscle weakness. Most CMs in the United States are related to the ryanodine receptor 1 (RYR1) gene. Researchers need more natural history data to learn about these CMs in children and adults. Objective: To learn more about the signs, symptoms, and course of RYR1-related disorders. Eligibility: People aged 7 years and older with an RYR1-related disorder. Design: Ambulatory participants will come to the Clinical Center and non-ambulatory participants will visit via telehealth. Visits will be once a year for 3 or 5 years. Clinical Center visits will take 2 to 3 days. All participants will undergo tests including: Photos and videos. These will be taken to document the participant s condition. Blood and urine tests. Activity Tracker. Participants will wear a device to record their activity. Questionnaires. Participants will answer questions about their health, pain, fatigue, stress, quality of life, and other topics. Participants who visit the Clinical Center will also undergo: Tests of heart and lung function. Motor skills and strength tests. Participants will walk, climb stairs, kneel, crawl, stand up, and perform other movements to test their strength and abilities. They will squeeze and pinch a handheld device to test their grip. Imaging scans. Skin biopsy. Adult participants may opt to have a sample of skin taken (one time only). Eye exam	Myopathies	À vérifier	Traitement symptomatique	United States	À vérifier

Essais cliniques

4

Molécule	Indication / population	Phase	NCT	Titre	Statut
A Natural History Study of RYR1-Related Disorders	Myopathies	À vérifier	NCT06287762	A Natural History Study of RYR1-Related Disorders	RECRUITING
EA-KAFO	Myopathies	Non applicable	NCT01961557	Evaluating a New Knee-Ankle-Foot Brace to Improve Gait in Children With Movement Disorders	COMPLETED
Extension assist knee ankle foot orthosis (EA-KAFO)	Myopathies	À vérifier	NCT06998134	Toward Ubiquitous Lower Limb Exoskeleton Use in Children and Young Adults	RECRUITING
Magnetic Resonance Imaging for Evaluating Kidney Function	Hypertension	À vérifier	NCT00006173	Magnetic Resonance Imaging for Evaluating Kidney Function	COMPLETED

Publications

7

Molécule	Indication / population	Titre	Journal	Date
Magnetic Resonance Imaging for Evaluating Kidney Function		Multiparametric MRI for Early Chronic Kidney Disease Detection: Insights Into Renal Microcirculation.	NMR in biomedicine
Magnetic Resonance Imaging for Evaluating Kidney Function		Cardiorespiratory fitness and left ventricular recovery after kidney transplantation: evidence, gaps, and future directions.	Renal failure
Magnetic Resonance Imaging for Evaluating Kidney Function		Navigating the diagnostic 'gray zone': prospective evaluation of an integrated MRI-Biomarker model for renal allograft triage.	Annals of medicine
Extension assist knee ankle foot orthosis (EA-KAFO)		Robot-Assisted Gait Training to Improve Gait Patterns in Two Adolescents with Childhood-Onset Stroke: A Case Report.	Physical & occupational therapy in pediatrics
Extension assist knee ankle foot orthosis (EA-KAFO)		Effect of using knee extension aid for gait training in subacute hemiplegia: a randomized controlled trial.	Journal of physical therapy science
Magnetic Resonance Imaging for Evaluating Kidney Function		A Custom-Built Intravoxel Incoherent Motion Diffusion Magnetic Resonance Imaging Tool for Renal Transplant Assessment: A Modular Graphical User Interface for Quantitative Biomarker Extraction.	Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation
Magnetic Resonance Imaging for Evaluating Kidney Function		Multiparametric MR Imaging for Detecting Early Chronic Kidney Disease and Grading Chronic Pathological Changes.	Journal of magnetic resonance imaging : JMRI