Clinical Research Directory

Aim 1 Enrollment Criteria Inclusion Criteria for Healthy Controls * Males or females, 10 years to 60 years, with a minimum height for participation of 135 cm * Ambulatory and able to complete routine clinical exercise testing * Willing and able to complete all study procedures * For individuals under the age of 18, parental/guardian permission (informed consent) and as appropriate, child assent * For individuals over the age of 18 the ability to provide informed consent Inclusion Criteria for PMD Patients * Males or females, 10 years to 60 years, with a minimum height for participation of 135 cm * Ambulatory and able to complete routine clinical exercise testing * Willing and able to complete all study procedures * Genetically confirmed mitochondrial myopathy (MM) as defined by a diagnosis of primary mitochondrial disease (PMD) with predominant symptoms of myopathy as expressed by exercise intolerance and muscle weakness and fatigue * Parental/guardian permission (informed consent) and as appropriate, child assent Exclusion Criteria for All Aim 1 Participants General Exclusion Criteria * Tracheostomy * Non-ambulatory * Unable to complete routine exercise testing * Diagnosed with or have symptoms of vertigo * Within 1 month of a recent hospital admission for acute illness * Severe co-existing cardiac or pulmonary disease * Cognitive impairment that may preclude ability to comply with study procedures * Pregnant or lactating females * Active alcohol and/or substance abuse * At the discretion of the principal investigator (PI), any medical condition that will interfere with or prevent the safe completion of the study * Parents/guardians or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures * Use of investigational agent(s) within 4 weeks * Individuals who are employed by the U.S. Department of Defense, including U.S military personal * Patients with biliary atresia with asplenia or polysplenia. * Patients with prior liver transplant. * Patients with cystic fibrosis. * Patients with chronic lung disease. * Patients with portal vein thrombosis, cavernous transformation of the portal vein or absent portal vein. * Patients with significant heart disease or severe congenital heart disease. * Patients with a history of allergic reaction to Lumason®, sulfur hexafluoride, sulfur hexafluoride lipid microsphere components, or other ingredients in Lumason (polyethylene glycol, distearoylphosphatidlycholine (DSPC), dipalmitoylphosphatidylglycerol sodium (DPPG-Na, palmitic acid) or other components of the ultrasound contrast agent * Any history of intraocular injury or fragment in or around the orbit that cannot be cleared through radiologic evaluation * Any history of bullet, shrapnel, or stabbing wounds that cannot be cleared through radiologic evaluation * Past or current employment involving (or exposure to) a metal grinder (e.g., at a construction worksite) * Claustrophobia or any known medical conditions which can be exacerbated by stress, anxiety, or panic attacks triggered by enclosed spaces * Inability to lie flat in an MRI scanner for up to 45 minutes * Unable to perform sub-maximal ankle dorsiflexion leg exercise during the MRI study Aim 2 Enrollment Criteria Inclusion Criteria for PICU PMD Non-Ambulatory Patients * Males or females ages 10 to 23 years (children and adults) * Non-ambulatory * Genetically confirmed mtDNA-PMD * Cooperative and capable of following research procedures * Have cognitive ability to enable cooperation with study procedures * Admitted to the PICU with an anticipated length of stay for \>24 hours * Willing and able to complete all study procedures * For individuals under the age of 18, parental/guardian permission (informed consent) and as appropriate, child assent * For individuals over the age of 18 the ability to provide informed consent Inclusion Criteria for PICU non-PMD neuromuscular diagnosis * Males or females ages 10 to 23 years (children and adults) * Non-ambulatory * Genetically confirmed non-PMD neuromuscular diagnosis * Cooperative and capable of following research procedures * Have cognitive ability to enable cooperation with study procedures * Admitted to the PICU with an anticipated length of stay for \>24 hours * For individuals under the age of 18, parental/guardian permission (informed consent) and as appropriate, child assent * For individuals over the age of 18 the ability to provide informed consent Inclusion Criteria for all other PICU Participants * Males or females ages 10 to 23 years (children and adults) * Non-ambulatory * No known genetic diagnosis with healthy pre-morbid status, admitted to PICU * Cooperative and capable of following research procedures * Have cognitive ability to enable cooperation with study procedures * Admitted to the PICU with an anticipated length of stay for \>24 hours * Willing and able to complete all study procedures * For individuals under the age of 18, parental/guardian permission (informed consent) and as appropriate, child assent * For individuals over the age of 18 the ability to provide informed consent Exclusion Criteria for All Aim 2 Participants * Have cognitive impairment that may preclude ability to comply with study procedures * Have cardiorespiratory instability * Patients in whom are so sick that they will not be able to cooperate with the study procedures * Have clear contraindications to mobilization * Have fixed lower limb deformities/contractures that would prohibit lower extremity exercise * Pregnant or lactating females * Active alcohol and/or substance abuse * At the discretion of the principal investigator (PI), any medical condition that will interfere with or prevent the safe completion of the study * Use of investigational agent(s) within 4 weeks * Individual who are employed by the U.S. Department of Defense, including U.S military personal * Patients with biliary atresia with asplenia or polysplenia. * Patients with prior liver transplant. * Patients with cystic fibrosis. * Patients with chronic lung disease. * Patients with portal vein thrombosis, cavernous transformation of the portal vein or absent portal vein. * Patients with significant heart disease or severe congenital heart disease. * Patients with a history of allergic reaction to Lumason®, sulfur hexafluoride, sulfur hexafluoride lipid microsphere components, or other ingredients in Lumason (polyethylene glycol, distearoylphosphatidlycholine (DSPC), dipalmitoylphosphatidylglycerol sodium (DPPG-Na, palmitic acid) or other components of the ultrasound contrast agent Exclusion Criteria Specific to study procedure: CrCEST MRI Scan: * Any history of intraocular injury or fragment in or around the orbit that cannot be cleared through radiologic evaluation * Any history of bullet, shrapnel, or stabbing wounds that cannot be cleared through radiologic evaluation * Past or current employment involving (or exposure to) a metal grinder (e.g., at a construction worksite) * Claustrophobia or any known medical conditions which can be exacerbated by stress, anxiety, or panic attacks triggered by enclosed spaces * Inability to lie flat in an MRI scanner for up to 45 minutes * Unable to perform sub-maximal ankle dorsiflexion leg exercise during the MRI study