Merosin Deficient Congenital Muscular Dystrophy

Cure CMD, Inc.

Retrospective Natural History Study of LAMA2 in Infants and Toddlers

LAMA2 Retrospective Review of Medical Charts in Infants & Toddlers With LAMA2-CMD

To characterize aspects of LAMA2-CMD in ages 0-5 years through medical chart review/data extraction, and participant survey. This study aims to derive clinical trial endpoints useful in conducting interventional trials in the near future.

Data will shared in a peer-reviewed publication. De-identified data will be used to inform future studies.

Prothelia, Inc.

Cure CMD

The Bönnemann Laboratory, NINDS, National Institutes of Health

Oscar H Mayer, MD, Children’s Hospital of Philadelphia

The Beggs Laboratory, Boston Children’s Hospital

Transplantation of purified autologous bone marrow-derived stem cells.

Duchenne Muscular Dystrophy

Stem Cells

Stem Cells of Arabia

Bone Marrow-Derived Autologous Stem Cells for the Treatment of Duchenne Muscular Dystrophy

Safety and Efficacy of Purified Autologous Bone Marrow-Derived Stem Cell Therapy for Patients With Duchenne Muscular Dystrophy.

Stem Cells Arabia

Patients with mitochondrial disease, investigated by blood samples and exercise test.

Patients with metabolic myopathy, investigated by blood samples and exercise test.

Patients with muscular dystrophy, investigated by blood samples and exercise test.

Healthy controls, investigated by blood samples and exercise test.

Mitochondrial Disease

Metabolic Myopathy

Muscular Dystrophy

Rigshospitalet

GDF-15 as a Biomarker for Mitochondrial Disease

The blood sample will be analysed with a Luminex analyser to determine the concentration of GDF-15.

The subjects perform an incremental exercise test until exhaustion on a cycle ergometer. The concentration of GDF-15 is measured afterwards with a Luminex analyser.

Lactate is a muscle marker, that is measured in this study.

Pyruvate is a muscle marker, that is measured in this study.

Creatin kinase is a muscle marker, that is measured in this study.

FGF-21 (Fibroblast Growth Factor 21) is a muscle marker that is measured in this study.

During the exercise test, the subjects will breath through a mask, that is connected to a machine. The machine is able to calculate the VO2max.

The Wmax will be calculated during the exercise test.

Nanna Scharff Nielsen

Student researcher

Rigshospitalet, Denmark

LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)

CMDIR

LAMA2-related Muscular Dystrophy Brain Study

A LAMA2-related Muscular Dystrophy Study: Brain Magnetic Resonance Imaging (MRI)and Brain Electrophysiology Evaluation

Both single and longitudinal brain MRIs will be retrieved with patient consent from hospitals within the United States. Two trained neuroradiologists will evaluate de-identified brain MRIs using a pre-determined scoring system to identify and classify structural abnormalities.

To obtain a seizure history on all individuals with LAMA2-MD who have had a seizure, including: type of seizures, age of seizure onset, seizure frequency, need for mechanical ventilation, seizure medications, and need for emergency room (ER) visit or hospitalization.

Both baseline and diagnostic electroencephalograms (EEG) will be obtained with patient consent from hospitals within the United States. An epileptologist will review de-identified EEG recordings to identify and classify abnormalities using a predetermined scoring system.

Compare the frequency of various grades of brain MRI abnormalities in individuals with LAMA2-MD with and without seizures. Identify any association between MRI abnormality and type of seizure.

muscular dystrophies/seizures

Retrospective Natural History Study of LAMA2 in Infants and Toddlers

Bone Marrow-Derived Autologous Stem Cells for the Treatment of Duchenne Muscular Dystrophy

GDF-15 as a Biomarker for Mitochondrial Disease

LAMA2-related Muscular Dystrophy Brain Study

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