Studies

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Interventional

Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia and Lambert-Eaton Syndrome

Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia and Lambert-Eaton Syndrome

Study Purpose:

Congenital myasthenia and LEMS are potentially lethal disorder, which, even with careful management, significantly impedes participation in normal daily functions. Currently approved therapies have had little impact on promoting a normal quality of life activity in these patients. The goal is to systematically examine the effect of 3,4-DAP on the natural course of this disease and to gain additional experience in titrating 3,4-DAP with other available therapies to maximize clinical function and development in this patient population. The specific aim of this study is to evaluate the use of 3,4 Diaminopyridine (DAP) on selected patients proven by genetic or serum antibody testing to have Congenital Myasthenic Syndrome (CMS) or Lambert-Eaton Myasthenic Syndrome (LEMS). We will evaluate the patient for CMS or LEMS, prescribe 3,4 DAP, and then clinically evaluate the response.

Recruitment Status:

MRI in Patients With Collagen VI Related Myopathies

MRI in Patients With Collagen VI Related Myopathies

Study Purpose:

The primary aim of this study is to investigate the pattern of involved muscles, the function and quality of the muscles and the disease severity using MRI.

Clinical Phenotype(s):

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Cardiac Arrhythmias and Sudden Death in Patients Affected With Laminopathies

Cardiac Arrhythmias and Sudden Death in Patients Affected With Laminopathies

Study Purpose:

This research study includes patients ages 1 to 25 years old with Lamin A/C related muscular dystrophy (LMNA-MD). The goal of this study is to evaluate how the heart is affected in children and teens with LMNA-MD. The evaluation includes an echocardiogram, an electrocardiogram, an electrophysiological study and the implantation of a subcutaneous ECG holter monitor.

Clinical Phenotype(s):

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A Rollover Study of ARRY-371797 in Patients With LMNA-Related Dilated Cardiomyopathy

A Rollover Study of ARRY-371797 in Patients With LMNA-Related Dilated Cardiomyopathy

Study Purpose:

This is a rollover study designed to investigate the safety and effectiveness of investigational study drug ARRY-371797 in patients who previously received ARRY-371797 in a study for patients with LMNA-related dilated cardiomyopathy sponsored by Array BioPharma and may, in the Investigator's opinion, derive benefit from continued treatment.

Clinical Phenotype(s):

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A Study of ARRY-371797 in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation

A Study of ARRY-371797 in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation

Study Purpose:

This is a randomized, double-blind, placebo-controlled study in patients with dilated cardiomyopathy (DCM) due to a gene encoding the lamin A/C protein (LMNA) mutation.

Clinical Phenotype(s):

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Inspiratory Muscle Training in Nemaline Myopathy (NEMTRAIN)

Inspiratory Muscle Training in Nemaline Myopathy (NEMTRAIN)

Study Purpose:

Nemaline myopathy is a rare congenital myopathy. Respiratory failure is the main cause of death in these patients. The primary objective of this study is to determine the effect of a 8-week inspiratory muscle training program on respiratory muscle function in nemaline myopathy patients. The secondary objective is to determine respiratory muscle function in nemaline myopathy patients and its correlation with clinical severity and general neuromuscular function. The nemaline myopathy patients will be included in the first phase for a clinical characterization. From this phase patients will be selected for the second phase, which is a controlled before-after trial of inspiratory muscle training. The primary outcome is the change in maximal inspiratory pressure (MIP) after active inspiratory muscle training

Clinical Phenotype(s):

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Pharmacological Treatment of a Rare Genetic Disease: N-acetylcysteine in Myopathy Associated Selenoprotein N-related Myopathy (SEPN1-RM) (SelNac)

Pharmacological Treatment of a Rare Genetic Disease: N-acetylcysteine in Myopathy Associated Selenoprotein N-related Myopathy (SEPN1-RM) (SelNac)

Study Purpose:

The objective of this study is to determine whether the administration of N-acetylcysteine (NAC) improves oxidative stress. To determine this, the study will assess the impact of oral treatment on the balance between reduced and oxidized form of glutathione in erythrocytes of peripheral blood.

Clinical Phenotype(s):

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A Trial of PF-06252616 in Ambulatory Participants With LGMD2I

A Trial of PF-06252616 in Ambulatory Participants With LGMD2I

Study Purpose:

The investigational product PF 06252616, a humanized anti myostatin monoclonal antibody that neutralizes myostatin (GDF8) is in development for the treatment of Limb Girdle Muscular Dystrophy 2I (LGMD2I) to preserve and/or improve muscle function. This study will provide the clinical assessment of the safety, tolerability, Pharmacokinetics and Pharmacodynamics of PF 06252616 following repeat IV doses in ambulatory adults with LGMD2I.

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Gene Transfer Clinical Study in X-Linked Myotubular Myopathy (ASPIRO)

Gene Transfer Clinical Study in X-Linked Myotubular Myopathy (ASPIRO)

Study Purpose:

This is a multinational, open-label, ascending-dose, delayed-treatment concurrent control clinical study to evaluate the safety and efficacy of AT132 in subjects with X-Linked Myotubular Myopathy aged less than 5 years old. Subjects will receive a single dose of AT132 and will be followed for safety and efficacy for 5 years

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S 48168 (ARM 210) for the Treatment of RYR1-related Myopathies (RYR1-RM)

S 48168 (ARM 210) for the Treatment of RYR1-related Myopathies (RYR1-RM)

Study Purpose:

This study proposes to test S 48168 (ARM210) in a Phase 1 trial in RYR1-RM patients, specifically. The objectives of this study are to explore the safety and tolerability, pharmacokinetics (PK), pharmacodynamics (PD)/target engagement (TE) of S 48168 (ARM210), as well as effects on muscle/motor function, and fatigue in RYR1-RM patients. The study population will include adult patients (≥18 years of age) who have demonstrated leaky RyR1 channels that are responsive to S48168 (ARM210) ex vivo.

Clinical Phenotype(s):

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Autologous Peripheral Blood Stem Cell Transplant for Neurologic Autoimmune Diseases

Autologous Peripheral Blood Stem Cell Transplant for Neurologic Autoimmune Diseases

Study Purpose:

This phase II trial studies the side effects and how well carmustine, etoposide, cytarabine and melphalan together with antithymocyte globulin before a peripheral blood stem cell transplant works in treating patients with autoimmune neurologic disease that did not respond to previous therapy. In autoimmune neurological diseases, the patient's own immune system 'attacks' the nervous system which might include the brain/spinal cord and/or the peripheral nerves. Giving high-dose chemotherapy, including carmustine, etoposide, cytarabine, melphalan, and antithymocyte globulin, before a peripheral blood stem cell transplant weakens the immune system and may help stop the immune system from 'attacking' a patient's nervous system. When the patient's own (autologous) stem cells are infused into the patient they help the bone marrow make red blood cells, white blood cells, and platelets so the blood counts can improve.

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A Study of Deflazacort (Emflaza®) in Participants With Limb-Girdle Muscular Dystrophy 2I (LGMD2I)

A Study of Deflazacort (Emflaza®) in Participants With Limb-Girdle Muscular Dystrophy 2I (LGMD2I)

Study Purpose:

This study is designed to evaluate the safety and efficacy of deflazacort in participants with LGMD2I. The study will include a 26-week double-blind, randomized, placebo-controlled period followed by a 26-week open-label extension period during which all participants will receive deflazacort.

Recruitment Status:

Congenital Muscular Dystrophy Ascending Multiple Dose Cohort Study Analyzing Pharmacokinetics at Three Dose Levels In Children and Adolescents With Assessment of Safety and Tolerability of Omigapil (CALLISTO)

Congenital Muscular Dystrophy Ascending Multiple Dose Cohort Study Analyzing Pharmacokinetics at Three Dose Levels In Children and Adolescents With Assessment of Safety and Tolerability of Omigapil (CALLISTO)

Study Purpose:

The purpose of the study is to establish the pharmacokinetic profile of omigapil in paediatric and adolescent patients with CMD and to evaluate the safety and tolerability of omigapil.

Recruitment Status:

Amifampridine Phosphate in Congenital Myasthenic Syndrome (CMS) (EAP-001)

Amifampridine Phosphate in Congenital Myasthenic Syndrome (CMS) (EAP-001)

Study Purpose:

This randomized, double-blind, controlled, outpatient two-period, two-treatment crossover study is designed to evaluate the efficacy and safety of amifampridine phosphate in patients (ages 2 and above) diagnosed with certain genetic subtypes of CMS and demonstrated open label (amifampridine phosphate) or history of sustained amifampridine benefit from treatment.

Clinical Phenotype(s):

Antioxidant Therapy in RYR1-Related Congenital Myopathy (RYR1)

Antioxidant Therapy in RYR1-Related Congenital Myopathy (RYR1)

Study Purpose:

Ryanodine receptor type 1-related myopathies (RYR1-RM) are the most common non-dystrophic muscle diseases that people are born with in the U.S. They affect development, muscles, and walking. Researchers want to test a new drug to help people with these diseases.

Clinical Phenotype(s):

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Observational

Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies

Contractile Cross Sectional Areas and Muscle Strength in Patients With Congenital Myopathies

Study Purpose:

Patients with inherited muscle diseases can have several problems in their muscles, which can be both structural and metabolic. All the different diseases can affect the contractility of the muscles. The aim of the study is to investigate the relation between muscle strength and contractile cross sectional area (CCSA) in the thigh and calf in patients affected by inherited muscle diseases.

Clinical Phenotype(s):

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Clinical Trial Readiness for the Dystroglycanopathies

Clinical Trial Readiness for the Dystroglycanopathies

Study Purpose:

The purpose of the study is to describe the early signs and symptoms of the dystroglycanopathies, and to gather information that will be required for future clinical trials.

Clinical Phenotype(s):

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Biomarker Development in LGMD2i

Biomarker Development in LGMD2i

Study Purpose:

The overall goal of this natural history study is to define the key LGMD2i phenotypes as measured by standard clinical outcome assessments (COAs), and to validate a muscle biomarker for LGMD 2i to support therapeutic development.

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Retrospective Natural History Study of LAMA2 in Infants and Toddlers (LAMA2 rTNHS)

Retrospective Natural History Study of LAMA2 in Infants and Toddlers (LAMA2 rTNHS)

Study Purpose:

This retrospective chart review study of 75-120 LAMA2-CMD patients will expand the investigators understanding of the natural history of this disease. Current and pending publications cover research performed only in ages 5-16 years; there is currently no documented natural history for patients ages 0-5 years. Data collected in this study has the potential to inform the design of future interventional studies that draw nearer to clinical trial readiness every day.

Recruitment Status:

Molecular and Genetic Studies of Congenital Myopathies

Molecular and Genetic Studies of Congenital Myopathies

Study Purpose:

In the Congenital Myopathy Research Program at Boston Children's Hospital and Harvard Medical School, the researchers are studying the congenital myopathies (neuromuscular diseases present from birth), including central core disease, centronuclear/myotubular myopathy, congenital fiber type disproportion, multiminicore disease, nemaline myopathy, rigid spine muscular dystrophy, SELENON (SEPN1) and RYR1 myopathy and undefined congenital myopathies. The primary goal of the research is to better understand the genes and proteins (gene products) involved in muscle functioning and disease. The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with congenital myopathies in the future. For more information, visit the Laboratory Website at www.childrenshospital.org/research/beggs

Recruitment Status:

The Deep Phenotype of Lamin A/C Cardiomyopathy

The Deep Phenotype of Lamin A/C Cardiomyopathy

Study Purpose:

This study seeks to discover clinically useful tests to improve the diagnosis of a rare and serious heart muscle disease caused by mutations in a gene called 'Lamin'. Patients born with lamin gene mutations have apparently healthy hearts initially, they begin experiencing symptoms in their twenties or thirties, and by age 45 the majority have undergone a heart transplant, experienced a major cardiac complication, or have died. Sudden heart rhythm abnormalities are a major cause of sudden death so earlier diagnosis can save lives by enabling timely treatment or implantation of specialised pacemakers (defibrillators). In clinical practice, diagnosis of lamin heart disease currently relies on the genetic test. Very little is known about the detailed imaging features of the hearts of patients with lamin heart disease although advanced echocardiography and cardiac MRI now offer the opportunity to study the health of the heart without the need for radiation.

Clinical Phenotype(s):

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Development of a Proxy Motor Outcome Measure in Young Children With Neuromuscular Disease

Development of a Proxy Motor Outcome Measure in Young Children With Neuromuscular Disease

Study Purpose:

To develop a parent reported observational measure of motor development in infants and young children, which will serve as a complimentary tool to clinical observation by reporting motor function as observed in the home setting and which will be used in clinical trials.

Clinical Phenotype(s):

Recruitment Status:

Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)

Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)

Study Purpose:

This is a prospective, non-interventional, longitudinal study of the natural history and function of approximately 60 patients with MTM from the United States, Canada and Europe. The duration of the study, including the enrollment period, will be 36 months. Data from the study will be used to characterize the disease course of MTM and determine which outcome measures will be the best to assess the efficacy of potential therapies.

Recruitment Status:

Myotubular Myopathy Genetic Testing Study

Myotubular Myopathy Genetic Testing Study

Study Purpose:

Myotubular myopathy (XLMTM) is an X-linked disorder caused by mutations in the myotubularin gene (MTM1). The clinical spectrum is variable and ranges from individuals who require a wheelchair and full time breathing support to those who are able to walk and breathe on their own. Symptoms of myotubular myopathy include long faces, facial weakness with eye muscle weakness, breathing support with a muscle biopsy demonstrating central nucleated fibers. These symptoms may be caused by mutations or changes in the MTM1, BIN1 (bridging integrator 1), DNM2 (dynamin 2) and RYR1 (ryanodine receptor 1) genes. However, the majority are caused by mutations in the MTM1 gene. Some patients with symptoms consistent with myotubular myopathy who initially have negative testing of the MTM1 gene were later found to have a unique type of change in the MTM1 gene. This unique change, called a deletion or duplication, can be found with a different type of genetic test called a CGH (comparative genomic hybridization) array. Investigators do not know how frequent deletions and duplications are in patients with X-linked myotubular myopathy. Recently, there have been advances in identifying potential treatments for XLMTM. The next step will be to proceed with clinical trials of potential treatments. In order to be ready for clinical trials, it is important that investigators find the specific genetic change that is causing XLMTM in people with this diagnosis. This study will attempt to find changes in the MTM1 gene in individuals who have clinical symptoms consistent with a diagnosis of XLMTM. Participants will be asked to enroll in the CMDIR (Congenital Muscle Disease International Registry), complete a brief clinical survey, provide access to medical records, and provide a saliva or blood sample for genetic testing. Results of genetic testing will be communicated to participants by the physician specified in the consent by the signing person. Study Hypothesis: Not all individuals with a clinical diagnosis of XLMTM have access to genetic testing. Investigators know that deletions and duplications of the MTM1 gene can cause XLMTM. Investigators will find more individuals with XLMTM by performing genetic testing of the MTM1 gene, including CGH array for deletions and duplications.

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MTM Manifesting Carrier Study

MTM Manifesting Carrier Study

Study Purpose:

The purpose of this study is to characterize manifesting carriers to identify key symptoms, and to define clinical trial endpoint variability.

Recruitment Status:

Malignant Hyperthermia Registry and Genetic Testing

Malignant Hyperthermia Registry and Genetic Testing

Study Purpose:

The purpose of this study is to to determine the penetrance of known and probable pathogenic variants in genes and the factors that contribute to penetrance in a population of children and adults in the United States exposed to Malignant Hyperthermia (MH) trigger agents.

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A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects (INCEPTUS)

A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects (INCEPTUS)

Study Purpose:

This is a pre-Phase 1 prospective, non interventional clinical assessment study to evaluate XLMTM subjects aged 3 years and younger. Many of these clinically relevant measures have not yet been routinely assessed in this population and may provide important insight on the natural history of XLMTM and for future evaluation of potential therapies.

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A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)

A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)

Study Purpose:

This retrospective medical chart review (RECENSUS) of approximately 100 XLMTM patients (with a goal to obtain 50 deceased and 20 living records) will provide further knowledge about the clinical manifestations and recorded medical management of XLMTM and potentially inform the design of future therapeutic intervention studies.

Recruitment Status:

Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for Patients With Laminopathies and Emerinopathies) (OPALE)

Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for Patients With Laminopathies and Emerinopathies) (OPALE)

Study Purpose:

The OPALE objectives are to provide a tool allowing detailed capture of patient genetic, neurological, cardiological, endocrinological and respiratory assessments, in order to allow i) precise disease natural history, ii) evaluation of different disease complication frequency and iii) identification of prognosis factors.

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Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)

Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)

Study Purpose:

This study is a longitudinal study evaluating the severity and progression of respiratory muscle function in patients with X-Linked Myotubular Myopathy (XLMTM) aged 0-14.

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Myotubular Myopathy Event Study (MTMES)

Myotubular Myopathy Event Study (MTMES)

Study Purpose:

The objective of the study is to identify the number of events during twelve months in men with genetically confirmed XLMTM.

Recruitment Status:

Gene Mutation Spectrum of Malignant Hyperthermia in China

Gene Mutation Spectrum of Malignant Hyperthermia in China

Study Purpose:

In this study, case information and specimens of patients with malignant hyperthermia(MH) will be collected from all over China, and gene fragment analysis, sanger sequencing method and/or high-throughput whole-genome sequencing will be performed. The MH bioinformatics database will be established to find the pathogenic gene and mutation site of MH in Chinese. Based on the bioinformatics database, the genetic law of MH family will be studied. According to the results of the study, the guideline for the diagnosis and treatment of MH that is in line with Chinese population biology characteristics will be formulated.

Recruitment Status:

Congenital Muscle Disease Hypoglycemia Survey

Congenital Muscle Disease Hypoglycemia Survey

Study Purpose:

To understand how frequently hypoglycemia occurs in congenital muscle disease, what types of congenital muscle diseases are more frequently affected, and what factors predispose or contribute to it.

Clinical Phenotype(s):

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Use of Tyrosine in Nemaline Myopathy

Use of Tyrosine in Nemaline Myopathy

Study Purpose:

The aim of this study is to gather information on the use of tyrosine in individuals with muscle problems.

Clinical Phenotype(s):

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Muscle Force Assessment in the Intensive Care Unit and in Primary Myopathies

Muscle Force Assessment in the Intensive Care Unit and in Primary Myopathies

Study Purpose:

The primary aim of the project is to apply the non-invasive stimulated muscle force assessment system to i) intensive care unit patients and ii) patients with primary myopathy or subclinic myopathy (e.g., Duchenne muscular dystrophy, Myotonia, MH). The investigators will use this new methodology of force assessment to phenotype patients weakness during their illnesses (depict typical force pattern) and monitor recovery periods, or disease progression, respectively. This new system will be evaluated until the year 2018. The investigators will determine variables of isometric skeletal muscle force. These systems should serve as force monitoring tools and help to guide therapies.

Clinical Phenotype(s):

Recruitment Status:

The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2

The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2

Study Purpose:

SEPN1 (SELENON) is a rare congenital myopathy due to mutations in the SELENON gene. MDC1A is a rare congenital muscle dystrophy due to mutations in the LAMA2 gene. Currently, not much is known about the natural history of these two muscle diseases and no (curative) treatment options exist. The investigators aim to study the natural history of SELENON- and LAMA2-related myopathy/congenital muscular dystrophy patients and prepare for future trials by selection of the most appropriate outcome measures. To this end, a standard medical history, neurological examination, functional measures, questionnaires, cardiac examination, respiratory function tests, radiological examination and accelerometry will be performed over an one and-a-half year period.

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