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Phenotype, Genotype & Biomarkers in ALS and Related Disorders
The goals of this study are: (1) to better understand the relationship between the phenotype and genotype of amyotrophic lateral sclerosis (ALS) and related diseases, including primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA), and frontotemporal dementia (FTD); and (2) to develop biomarkers that might be useful in aiding therapy development for this group of disorders.
• Member of at least one of the following categories: 1. Individuals with a clinical diagnosis of ALS or a related disorder, including FTD, HSP, PLS, PMA and MSP (sporadic or familial). 2. Family member of an enrolled affected individual.
• Able and willing to comply with relevant procedures.
• Affected with end or late stage disease.
• A condition or situation which, in the PI's opinion, could confound the study finding or may interfere significantly with the individual's participation and compliance with the study protocol. This includes (but is not limited to) neurological, psychological and/or medical conditions.
Amyotrophic Lateral Sclerosis, Frontotemporal Dementia, Primary Lateral Sclerosis, Hereditary Spastic Paraplegia, Progressive Muscular Atrophy, Multisystem Proteinopathy
natural history, biomarkers, phenotype, genotype
Operative Versus Non-Operative Treatment for Atraumatic Rotator Cuff Tears (ARC)
Rotator cuff tears are one of the most common reasons to seek musculoskeletal care in the United States and one of the fastest growing ambulatory surgery procedures. However, data on comparison of operative versus non-operative treatment is lacking and urgently needed.
50 Years to 84 Years old
• Aged =>50 years to <85 years
• Shoulder pain and/or loss of range of active motion, strength or function
• MRI-confirmed partial- or full-thickness supraspinatus and/or infraspinatus tear of 4cm or less in longitudinal dimension
• Medically fit for surgery, defined as Category I-III per American Society of Anesthesiologists (ASA) Physical Status Classification
• Ability and willingness to provide informed consent
• Primary diagnosis is something other than a rotator cuff tear
• History (in last 2 years) of shoulder fracture involving the humeral head on affected side
• Previous rotator cuff surgery on affected side
• Isolated subscapularis &/or teres minor tear on affected side
• Acute rotator cuff tear caused by a severe trauma
• Shoulder used as a weight-bearing joint
• Contraindication to MRI (claustrophobia, pacemaker, pregnancy, shoulder implant, etc.)
• Glenohumeral osteoarthritis on xrays/MRI
• Grade 4 fatty infiltration of rotator cuff (any tendons)
• Candidate for shoulder arthroplasty at baseline
• Non-English speaking
Procedure: Operative, Procedure: Non-Operative
Rotator Cuff Tear
arthroscopy, physical therapy, rehabilitation, surgery, rotator cuff tear
Effect of In-Patient Exercise Training on Length of Hospitalization in Burned Patients (MP-10)
This study will measure efficacy of early in-patient exercise as an adjunct to current Standard of Care (SOC) for 96 patients in a multi-centre trial. The secondary purpose is to assess the efficacy of a personalized, structured, and quantifiable exercise program (MP10) carried out soon after admission until hospital discharge (including during the BICU stay and time on ventilation).
7 Years to 60 Years old
Inclusion Criteria:1. Male and female subjects ≥7 to 60 years of age 2. >30% TBSA burned, as estimated by the physician in charge 3. No evidence of organ failure
Exclusion Criteria:1. Active Tuberculosis- based on clinical symptoms and/or abnormal chest x-ray in the upper lobe. 2. Electrical burns 3. Mental retardation or autism or any other mental disorder that makes it impossible to participate in an exercise program 4. Pregnancy
Other: Exercise + SOC PT/OT, Other: SOC PT/OT
Muscle Weakness, Late Effect of Burn, Muscle, Fatigue, Heart, Burn Rehabilitation
Burn, Exercise, Ergometer, MP-10
TRANSFIX Zenith® Transection Clinical Study (TRANSFIX)
The TRANSFIX study is a clinical trial approved by US FDA to study the safety and effectiveness of the Zenith® TX2® Low Profile Endovascular Graft for treatment of Blunt Thoracic Aortic Injury.
16 Years and over
• Vessels suitable for endovascular access and stent graft placement
• Blunt thoracic aortic injury of the descending thoracic aorta
• At least 16 years of age
• Informed consent given by patient or legally authorized representative
• Clinical considerations that would compromise patient safety or study outcomes
• Unsuitable arterial anatomy
Device: Zenith® TX2® Low Profile Endovascular Graft
Thoracic Aorta, Thoracic Injuries, Blunt Injuries
Blunt thoracic aortic injury, Transection, Endovascular graft
Expanded Access Study Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS), Congenital Myasthenic Syndrome (CMS), or Downbeat Nystagmus Patients (EAP-001)
The primary objective of the study is: • To provide patients with LEMS/CMS/downbeat nystagmus access to amifampridine phosphate therapy until the product becomes commercially available. The secondary objective of the study is: • To assess the long-term safety of amifampridine phosphate in patients with LEMS/CMS/downbeat nystagmus
10 Years and over
• Male or female:
• 2 years of age at 5 pediatric CMS study sites
• 10 years of age at other study sites.
• Confirmed physician diagnosis of LEMS, CMS or downbeat nystagmus.
• Completion of anti-cancer treatment at least 3 months (90 days) before treatment.
• Negative urine pregnancy test for females of childbearing potential at Screening.
• If sexually active and of childbearing potential, willing to use 2 acceptable methods of contraception from screening visit until 3 months after the last dose of investigational product. No adequate clinical data on exposed pregnancies are available for amifampridine. No nonclinical safety data are available regarding the effects of amifampridine on reproductive function. Amifampridine phosphate should not be used during pregnancy. It is unknown whether amifampridine is excreted in human breast milk. The excretion of amifampridine in milk has not been studied in animals. Amifampridine phosphate should not be used during breastfeeding.
• Any subject currently participating in studies LMS-002, LMS-002EXT, or CMS 001 is immediately eligible for enrollment into study EAP-001, as long as inclusion/exclusion criteria are still met.
• Willing and able to provide written informed consent after the nature of the study has been explained and before the start of any research-related procedures.
• History of epilepsy.
• CMS subtypes including slow-channel syndrome, LRP4 deficiency, and acetylcholinesterase deficiency.
• Known active brain metastasis. Patients with treated brain metastasis (radiotherapy and/or surgery) who have completed treatment for their brain metastasis >90 days before Screening, are neurologically stable (neurological symptoms grade <1), are on a stable dose of corticosteroids and have no evidence of new disease on magnetic resonance imaging (MRI) are eligible, provided they meet the other inclusion/exclusion criteria.
• Current use of dalfampridine (Ampyra®; 4-aminopyridine), and any form of 3,4 DAP other than the investigational product provided, such as amifampridine base and does not agree to discontinue use for the duration of the study.
• Use of guanidine hydrochloride within 7 days of starting amifampridine phosphate treatment.
• History of drug allergy to any pyridine-containing substances or any amifampridine phosphate excipients (i.e. microcrystalline cellulose, colloidal silicon dioxide or calcium stearate).
• Use of any other investigational product (other than 3,4 DAP or amifampridine phosphate) or investigational medical device within 30 days before starting treatment or requirement for any investigational agent before completion of all scheduled study assessments.
• An electrocardiogram (ECG) within 6 months before starting treatment that shows clinically significant abnormality(ies), in the opinion of the patient's personal physician.
• History of additional risk factors for torsade de pointes (e.g. history of surviving a near drowning due to loss of consciousness, family history of congenital QT syndrome, long QT syndrome, family history of unexplained early sudden death, or heart failure).
• Breastfeeding or pregnant or planning to become pregnant (self or partner). Male patients with breastfeeding partners are not excluded from the study.
• History of severe renal impairment or evidence of severe renal impairment at time of Screening on laboratory tests, specifically a creatinine clearance <30 mL/min (within 30 days) as calculated using the Cockcroft Gault formula.
• History at time of Screening of laboratory tests (within 30 days) indicating hepatic impairment: o In patients without liver metastases from cancer, alanine aminotransferase (ALT), aspartate aminotransferase (AST), and/or total bilirubin >1.5 × upper limit of normal (ULN).
• Any condition that, in the view of the Principal Investigator, places the patient at high risk of poor treatment compliance or of not completing the study.
Drug: Amifampridine Phosphate
Lambert-Eaton Myasthenic Syndrome, Congenital Myasthenic Syndrome, Downbeat Nystagmus
Amifampridine Phosphate, Amifampridine, 3,4-Diaminopyridine Phosphate, 3,4-Diaminopyridine, 3,4-DAP, LEMS, CMS, Lambert-Eaton Myasthenic Syndrome, Congenital Myasthenic Syndrome, Neuromuscular disorders, Neuromuscular, eye movement, electromyography, EMG, Expanded Access, Firdapse®, Downbeat Nystagmus
Arimoclomol in Amyotropic Lateral Sclerosis
A multicenter, randomized, double-blind, placebo-controlled, parallel group trial to evaluate the efficacy and safety of arimoclomol in amyotropic lateral sclerosis (ALS)
18 Years and over
• Subject meets revised El Escorial criteria for clinically possible, clinically probable / Clinically probable ALS laboratory-supported or clinically definite ALS, or familial ALS
• 18 months or less since first appearance of weakness (e.g. limb weakness, dysarthria, dysphagia, shortness of breath).
• ALSFRS-R equal to or above 35 and erect (seated) SVC% predicted equal to or above 80% at screening
• Tracheostomy or use of non-invasive ventilation for more than 2 hours during waking hours at the time of screening or baseline
• pregnant or breast-feeding
• current or anticipated use of diaphragmatic pacing
• Any other relevant medically significant condition which could present risk to the subject or interfere with the assessment of safety or has an increased risk of causing death during the trial
Drug: Arimoclomol, Drug: Placebo oral capsule
Amyotrophic Lateral Sclerosis
Multicenter Prospective Cohort Study on Current Treatments of Legg-Calvé-Perthes Disease (IPSG1)
Legg-Calvé-Perthes disease is a childhood hip disorder which is common enough to be a significant public health problem (affects 1 in 740 boys between ages 0—14), but uncommon enough to have a sufficient number of patients from a single institution to perform a definitive prospective study comparing the results of current treatments. The present study will establish a database of prospectively identified patients with Legg-Calvé-Perthes (LCP) Disease and collect information regarding their presentation, treatment, and outcomes in the course of receiving currently available treatments. This study seeks to compare the outcomes of current treatments in the management of different age groups (ages 1-6, 6—8, 8—11, >11) of patients with Perthes disease at two- and five-year followup and at skeletal maturity. For each age group, two to three common treatment regimens currently used by practicing pediatric orthopaedic surgeons will be compared. The intervention a patient receives is determined through physician preference. Physicians pick an intervention for each age group and treat each patient with the same intervention.
6 Years to 16 Years old
• Diagnosed with Legg-Calvé-Perthes disease
• Between age 1-18
• Patients with possible secondary femoral osteonecrosis if over the age of 11 due to trauma or corticosteroid therapy are also eligible.
• Patients with previous surgical treatment on the affected hip if not in the >11 age group
Procedure: osteotomy, Procedure: multiple epiphyseal drilling
Legg Calve Perthes Disease
femur head necrosis, hip, pediatric orthopedics, MRI, Osteonecrosis, Bone diseases, Legg Calve Perthes Syndrome
Averting Complications of Proton Pump Inhibitor Therapy by Effervescent Calcium Magnesium Citrate
Proton pump inhibitors (PPIs) are widely used for the control of gastric ulcer-gastritis, erosive esophagitis (gastroesophageal reflux disease), peptic ulcer disease (duodenal ulcer), and heartburn. Despite their efficacy, their use has been implicated in possibly causing fragility fractures (osteoporosis), hypomagnesemia (magnesium deficiency) and increased risk of chronic kidney disease (CKD). The current trial represents the investigators' ongoing effort to discern whether these complications could be averted by effervescent calcium magnesium citrate (EffCaMgCit).
21 Years to 99 Years old
• Must have taken PPI (omeprazole or equivalent ≥ 20 mg/day, ≥ three times per week, for at least 2 months)
• Expected to continue at a similar dosage
• Stage 1 hypertension (with systolic blood pressure <140 and diastolic <90)
• controlled diabetes mellitus Type II with HbA1C less than 7%
• end-stage renal failure on dialysis
• hypophosphatemia (serum P < 2.5 mg/dL)
• hypertension stage 2 or higher
• diabetes Type II with HbA1C ≥ 7%
• treatment with adrenocorticosteroids, diuretics, non-steroidal anti-inflammatory agents
• regular dose of magnesium supplements, bisphosphonate, teriparatide, denosumab or selective estrogen receptor modulators. Inclusion/exclusion of other drugs or conditions will be considered on an individual basis.
Drug: EffCaMgCit, Other: Placebo
Bone mineral density
Biospecimen Analysis in Determining Effects of Chemotherapy on Fertility in Osteosarcoma Survivors
This research trial studies saliva, semen, and blood samples to determine effects of chemotherapy on fertility in osteosarcoma survivors. Study biospecimen samples from osteosarcoma survivors in the laboratory may help doctors learn whether chemotherapy causes fertility problems and to learn more about the long term effects.
18 Years to 50 Years old
• Received upfront therapies for osteosarcoma, which included cisplatin, (with or without other agents)
• Patient must have completed cancer treatment >= 2 years prior to study enrollment
• Osteosarcoma survivors without a systemically treated relapse or subsequent malignancy
• Note: History of relapse or second malignancy is permitted if treated with local therapy only (e.g. surgery, radiation)
• Able to speak, read and write in English, French or Spanish
• All patients and/or their parents or legal guardians must sign a written informed consent
• All institutional, Food and Drug Administration (FDA), and National Cancer Institute (NCI) requirements for human studies must be met
Procedure: Biospecimen Collection, Other: Laboratory Biomarker Analysis, Other: Questionnaire Administration
Cancer Survivor, Osteosarcoma