Estudios

Haga clic en el título de un estudio para ver el propósito del estudio y acceder a más detalles.

Intervencional

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:

La miastenia congénita y el LEMS son trastornos potencialmente letales que, incluso con un manejo cuidadoso, impiden significativamente la participación en las funciones diarias normales. Las terapias actualmente aprobadas han tenido poco impacto en la promoción de una actividad de calidad de vida normal en estos pacientes. El objetivo es examinar sistemáticamente el efecto de 3,4-DAP en el curso natural de esta enfermedad y obtener experiencia adicional en la valoración de 3,4-DAP con otras terapias disponibles para maximizar la función clínica y el desarrollo en esta población de pacientes. El objetivo específico de este estudio es evaluar el uso de 3,4 diaminopiridina (DAP) en pacientes seleccionados probados por pruebas genéticas o de anticuerpos en suero que tienen síndrome miasténico congénito (CMS) o síndrome miasténico de Lambert-Eaton (LEMS). Evaluaremos al paciente para CMS o LEMS, prescribiremos 3,4 DAP y luego evaluaremos clínicamente la respuesta.

Recruitment Status:

Cardiac Arrhythmias and Sudden Death in Patients Affected With Laminopathies

Cardiac Arrhythmias and Sudden Death in Patients Affected With Laminopathies

Study Purpose:

Este estudio de investigación incluye pacientes de 1 a 25 años de edad con distrofia muscular relacionada con el Lamin A / C (LMNA-MD). El objetivo de este estudio es evaluar cómo se ve afectado el corazón en niños y adolescentes con LMNA-MD. La evaluación incluye un ecocardiograma, un electrocardiograma, un estudio electrofisiológico y la implantación de un monitor subcutáneo Holter de electrocardiografía.

Clinical Phenotype(s):

Recruitment Status:

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):

Recruitment Status:

A Trial of PF-06252616 in Ambulatory Participants With LGMD2I

A Trial of PF-06252616 in Ambulatory Participants With LGMD2I

Study Purpose:

El producto en investigación PF 06252616, un anticuerpo monoclonal anti miostatina humanizado que neutraliza la miostatina (GDF8) está en desarrollo para el tratamiento de la distrofia muscular de cinturas 2I (LGMD2I) para preservar y / o mejorar la función muscular. Este estudio proporcionará la evaluación clínica de la seguridad, la tolerabilidad, la farmacocinética y la farmacodinámica de PF 06252616 después de dosis IV repetidas en adultos ambulatorios con LGMD2I.

Recruitment Status:

MRI in Patients With Collagen VI Related Myopathies

MRI in Patients With Collagen VI Related Myopathies

Study Purpose:

El objetivo principal de este estudio es investigar el patrón de los músculos involucrados, la función y la calidad de los músculos y la gravedad de la enfermedad mediante resonancia magnética.

Clinical Phenotype(s):

Recruitment Status:

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):

Recruitment Status:

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):

Recruitment Status:

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:

El objetivo de este estudio es determinar si la administración de N-acetilcisteína (NAC) mejora el estrés oxidativo. Para determinar esto, el estudio evaluará el impacto del tratamiento oral en el equilibrio entre la forma reducida y oxidada de glutatión en los eritrocitos de sangre periférica.

Clinical Phenotype(s):

Recruitment Status:

Gene Therapy Trial in Patients With LGMDR9

Gene Therapy Trial in Patients With LGMDR9

Study Purpose:

Phase 1-2 study including a dose escalation safety and proof of concept phase (Stage 1, open label), followed by a double-blind, randomized, placebo-controlled confirmatory phase (Stage 2)

Recruitment Status:

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):

Recruitment Status:

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.

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:

El objetivo del estudio es establecer el perfil farmacocinético de omigapil en pacientes pediátricos y adolescentes con CMD y evaluar la seguridad y la tolerabilidad de omigapil.

Recruitment Status:

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:

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

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

Study Purpose:

Este estudio cruzado aleatorizado, doble ciego, controlado, ambulatorio, de dos períodos y dos tratamientos está diseñado para evaluar la eficacia y la seguridad del fosfato de amifampridina en pacientes (de 2 años de edad y mayores) diagnosticados con ciertos subtipos genéticos de CMS y con etiqueta abierta demostrada ( fosfato de amifampridina) o antecedentes de beneficio sostenido del tratamiento con amifampridina.

Clinical Phenotype(s):

Recruitment Status:

Antioxidant Therapy in RYR1-Related Congenital Myopathy (RYR1)

Antioxidant Therapy in RYR1-Related Congenital Myopathy (RYR1)

Study Purpose:

Las miopatías relacionadas con el receptor de Ryanodina tipo 1 (RYR1-RM) son las enfermedades musculares no distróficas más comunes con las que las personas nacen en los EE. UU. Afectan el desarrollo, los músculos y la marcha. Los investigadores quieren probar un nuevo medicamento para ayudar a las personas con estas enfermedades.

Clinical Phenotype(s):

Recruitment Status:

Modifying Factors in Striated Muscle Laminopathies (LMNAModifier)

Modifying Factors in Striated Muscle Laminopathies (LMNAModifier)

Study Purpose:

To collect biological material (muscle and/or skin biopsies) and the phenotype of patients with mutations in the LMNA gene (within large families with variable clinical presentation or within cohorts of patients with recurrent mutations in the LMNA gene. To grade the severity of the muscle phenotype of these patients (severe, moderate, mild). Perform "omics" analysis on their biological material.

Recruitment Status:

Early Phase Human Drug Trial to Investigate DYN101 in Participants 2 to 17 Years With Centronuclear Myopathies (DyNaMic)

Early Phase Human Drug Trial to Investigate DYN101 in Participants 2 to 17 Years With Centronuclear Myopathies (DyNaMic)

Study Purpose:

There are no available treatments aside from supportive care for patients with Centronuclear myopathy (CNM). This trial will assess the safety and tolerability as well as pharmacokinetics (PK), pharmacodynamics (PD) and preliminary efficacy of DYN101 in participants 2 to 17 years of age with CNM caused by mutations in DNM2 or MTM1.

Clinical Phenotype(s):

Recruitment Status:

Exploratory Study of MYK-491 in Patients With Primary Dilated Cardiomyopathy (DCM) Due to Genetic Variants

Exploratory Study of MYK-491 in Patients With Primary Dilated Cardiomyopathy (DCM) Due to Genetic Variants

Study Purpose:

The purpose of this Phase 2a study is to establish safety and tolerability of treatment with MYK-491 in patients with primary dilated cardiomyopathy (DCM) due to MYH7 or TTN variants.

Recruitment Status:

BBP-418 in Patients With LGMD2I

BBP-418 in Patients With LGMD2I

Study Purpose:

This is an open label study in ambulatory and non-ambulatory subjects with LGMD2I (also known as LGMD R9). This is a study to determine the safety and tolerability of ascending dose levels of BBP-418 in those subjects.

Recruitment Status:

Exploratory Study of Danicamtiv in Patients With Primary Dilated Cardiomyopathy (DCM) Due to Genetic Variants

Exploratory Study of Danicamtiv in Patients With Primary Dilated Cardiomyopathy (DCM) Due to Genetic Variants

Study Purpose:

The purpose of this Phase 2a study is to establish safety and preliminary efficacy of treatment with danicamtiv in patients with primary dilated cardiomyopathy (DCM) due to MYH7 or TTN variants .

Recruitment Status:

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

Recruitment Status:

Observacional

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):

Recruitment Status:

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:

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:

Los pacientes con enfermedades musculares hereditarias pueden tener varios problemas en sus músculos, que pueden ser tanto estructurales como metabólicos. Todas las diferentes enfermedades pueden afectar la contractilidad de los músculos. El objetivo del estudio es investigar la relación entre la fuerza muscular y el área de sección transversal contráctil (CCSA) en el muslo y la pantorrilla en pacientes afectados por enfermedades musculares hereditarias.

Recruitment Status:

Biomarker Development in LGMD2i

Biomarker Development in LGMD2i

Study Purpose:

El objetivo general de este estudio de historia natural es definir los fenotipos importantes de LGMD2i medidos por las evaluaciones de resultados clínicos estánder (COA) y validar un biomarcador muscular para LGMD 2i para apoyar el desarrollo terapéutico.

Clinical Phenotype(s):

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):

Recruitment Status:

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:

Desarrollar una medida de observación observada por los padres del desarrollo motor en bebés y niños pequeños, que servirá como una herramienta complementaria para la observación clínica al informar la función motora tal como se observa en el hogar y que se utilizará en ensayos clínicos.

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:

Este es un estudio prospectivo, no intervencionista, longitudinal de la historia natural y la función de aproximadamente 60 pacientes con MTM de los Estados Unidos, Canadá y Europa. La duración del estudio, incluido el período de inscripción, sereá de 36 meses. Los datos del estudio se utilizarán para caracterizar el curso de la enfermedad de MTM y determinar qué medidas de resulado serán las mejores para evaluar la eficacia de las posibles terapias.

Recruitment Status:

Myotubular Myopathy Genetic Testing Study

Myotubular Myopathy Genetic Testing Study

Study Purpose:

La miopatía miotubular (XLMTM) es un trastorno ligado al cromosoma X causado por mutaciones en el gen miotubularina (MTM1). El espectro clínico es variable y va desde individuos que requieren una silla de ruedas y apoyo respiratorio a tiempo completo hasta aquellos que pueden caminar y respirar por sí mismos. Los síntomas de la miopatía miotubular incluyen caras largas, debilidad facial con debilidad muscular ocular, apoyo respiratorio con una biopsia muscular que demuestra fibras nucleadas centrales. Estos síntomas pueden ser causados por mutaciones o cambios en los genes MTM1, BIN1 (bridging integrator 1), DNM2 (dinamina 2) y RYR1 (receptor de rianodina 1). Sin embargo, la mayoría son causadas por mutaciones en el gen MTM1. Se descubrió que algunos pacientes con síntomas consistentes con miopatía miotubular que inicialmente tenían pruebas negativas del gen MTM1 tenían un tipo único de cambio en el gen MTM1. Este cambio único, llamado deleción o duplicación, se puede encontrar con un tipo diferente de prueba genética llamada matriz CGH (hibridación genómica comparativa). Los investigadores no saben cuán frecuentes son las deleciones y duplicaciones en pacientes con miopatía miotubular ligada al cromosoma X. Recientemente, ha habido avances en la identificación de posibles tratamientos para XLMTM. El siguiente paso será proceder con ensayos clínicos de posible tratamientos. Para estar listo para los ensayos clínicos, es importante que los investigadores encuentren el cambio genético específico que está causando XLMTM en personas con este diagnóstico. Este estudio intentará encontrar cmabios en el gen MTM1 en personas que tienen síntomas clínicos consistentes con un diagnóstico de 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. Se pedirá a los participantes que se inscriban en el CMDIR (El Registro Internacional de enfermedades Musculares Congénitas), que completen una breve encuesta clínica, proporcionen acceso a registros médicos y proporcionen una muestra de saliva o sangre para pruebas genéticas. Los resultados de las pruebas genéticas serán comunicados a los participantes por el médico especificado en el consentimiento de la persona que firma. Hipótesis de estudio: no todas las personas con diagnóstico clínico de XLMTM tienen acceso a pruebas genéticas. Los investigadores saben que las deleciones y duplicaciones del gen MTM1 pueden causar XLMTM. Los investigadores encontrarán más personas con XLMTM al realizar pruebas genéticas del gen MTM1, incluida la matriz CGH para deleciones y duplicaciones.

Recruitment Status:

MTM Manifesting Carrier Study

MTM Manifesting Carrier Study

Study Purpose:

El propósito de este estudio es caracterizar los portadores que se manifiestan MTM para identificar los síntomas clave y definir la variabilidad del crtierio de valoración del ensayo clínico.

Recruitment Status:

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:

Esta revisión retrospectiva de la historia clínica (RECENSUS) de aproximadamente 100 pacientes XLMTM (con el objetivo de obtener 50 registros de fallecidos y 20 registros de vida) proporcionará un mayor conocimiento sobre las manifestaciones clínicas y el manejo médico registrado de XLMTM e informará potencialmente el diseño de estudios de intervención terapéutica en el futuro.

Clinical Phenotype(s):

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:

Los objetivos de OPALE son proporcionar una herramienta que permita la captura detallada de las evaluaciones genéticas, neurológicas, cardiológicas, endocrinológicas y respiratorias del paciente, a fin de permitir i) la historia natural precisa de la enfermedad, ii) la evaluación de diferentes frecuencias de complicaciones de la enfermedad y iii) la identifiación de los factores de pronóstico.

Recruitment Status:

Malignant Hyperthermia Registry and Genetic Testing

Malignant Hyperthermia Registry and Genetic Testing

Study Purpose:

El propósito de este estudio es determinar la penetrancia de variantes patogénicas  conocidas y probables en los genes y los factores que contribuyen a la penetración en una población de niños y adultos en los Estados Unidos exxpuestos a agentes desencadenantes de la hipertermia maligna (HM).

Recruitment Status:

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:

Este es un estudio de evaluación clínica prospectivo, no intervencionista previo a la Fase 1 para evaluar sujetos XLMTM de 3 años o menos. Muchas de estas medidas clínicamente relevantes aún no se han evaluado rutinariamente en esta población y pueden proporcionar información importante sobre la historia natural de XLMTM y para la evaluación futura de posibles terapias.

Recruitment Status:

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.

Recruitment Status:

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:

Para comprender con qué frecuencia ocurre la hipoglucemia en la enfermedad muscular congénita, qué tipos de enfermedades musculares congénitas se ven afectadas con mayof recuencia y qué factores la predisponen o contribuyen a ella.

Clinical Phenotype(s):

Recruitment Status:

Use of Tyrosine in Nemaline Myopathy

Use of Tyrosine in Nemaline Myopathy

Study Purpose:

El objectivo de este estudio es recopilar información sobre el uso de tirosina en personas con problemas musculares.

Clinical Phenotype(s):

Recruitment Status:

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:

El objetivo principal del proyecto es aplicar el sistema de evaluación de la fuerza muscular estimulada no invasiva a i) pacientes de la unidad de cuidados intensivos y ii) pacientes con miopatía primaria o miopatía subclínica (por ejemplo, distrofia muscular de Duchenne, miotonía, MH). Los investigadores utilizarán esta nueva metodología de evaluación de la fuerza para fenotipar la debilidad de los pacientes durante sus enfermedades (representan el patrón de fuerza típico) y controlarán los períodos de recuperación o la progresión de la enfermedad, respectivamente. Este nuevo sistema será evaluado hasta el año 2018. Los investigadores determinarán las variables de la fuerza isométrica del músculo esquelético. Estos sistemas deberían servir como herramientas de monitoreo de fuerza y ayudar a guiar las terapias.

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.

Recruitment Status:

Natural History of Limb Girdle Muscular Dystrophy Type 2A and Type 2E

Natural History of Limb Girdle Muscular Dystrophy Type 2A and Type 2E

Study Purpose:

This is an observational study, no drug (marketed or investigational) will be provided as part of the study, and the study procedures will have no impact on the medical care delivered to patients participating in this study. The overall study data collection period is planned to last up to 5 years with assessments occurring at baseline, and every 6 months thereafter for a total period of 3 years. Medical records for enrolled patients will be abstracted at baseline and annually to obtain clinical information, and data will be recorded for the study. Eligible patients will be asked to provide informed consent and to complete semi-annual patient surveys and functional assessments. The patient surveys will include selected PRO instrument(s) along with additional questions to characterize the patient's perception of disease.

Clinical Phenotype(s):

Recruitment Status:

Improvement of Diagnostic and Phenotype-genotype Correlation Studies in Patients With Myopathy Suspected of Titinopathy (DIAMYOTIT)

Improvement of Diagnostic and Phenotype-genotype Correlation Studies in Patients With Myopathy Suspected of Titinopathy (DIAMYOTIT)

Study Purpose:

Due to the widespread use of NGS, TTN is emerging as a major causative gene in neuromuscular disorders, with high clinical heterogeneity. The mechanisms underlying the phenotypic variability and mode of inheritance (recessive or dominant) of titinopathies are poorly understood. They involve the primordial structural functions of titin on the formation and stability of the sarcomere, as well as its interactions with other proteins. We identified by NGS, in patients with skeletal myopathy (with or without cardiomyopathy), several potentially disease causing TTN variants. The specific aims of the present project are to implement functional studies (transcripts, protein analyses, in vitro protein-protein interaction studies) to evaluate the effect of TTN variants on the transcripts and protein in order to perform phenotype-genotype correlation studies. We participate to the national "titin network" and to international efforts for the understanding of the molecular bases of titinopathies. Genomic characterisation opens the way to develop cellular models of titinopathy, derived from patient biopsies. This is also a mandatory first step for the design of novel therapeutic approaches.

Clinical Phenotype(s):

Recruitment Status:

Multisystem Features of Malignant Hyperthermia or Rhabdomyolysis Related to RYR1 Variants

Multisystem Features of Malignant Hyperthermia or Rhabdomyolysis Related to RYR1 Variants

Study Purpose:

Malignant hyperthermia and rhabdomyolysis are phenotypes that have long been considered to occur only in response to external stimuli (trigger anaesthesia and physical exhaustion) show several features of a continuous disease manifestation. Previous studies showed prolonged bleeding time after injury, selective immunological advantages, axial muscle weakness and several social difficulties. A detailed study of the neuromuscular and multisystem features of patients with RYR1-related malignant hyperthermia or rhabdomyolysis is needed to provide clarification about the continuous and multisystem disease manifestations in these patients.

Recruitment Status: