Spinal Muscular Atrophy

Merosin Deficient Congenital Muscular Dystrophy

Fasting for 24 hours or until hypoglycemia (blood glucose < 3mmol/L) or symptoms of hypoglycemia

Fasting

Copenhagen Neuromuscular Center

Fat and Glucose Metabolism in Fed and Fasted State in Patients With Low Skeletal Muscle Mass

Fedt og Sukkerstofskiftet Under Faste Hos Patienter Med Lav Muskelmasse.

Using indirect calorimetri and stable isotope technique: of [U-13C]-palmitate (0.0026 mg kg-1 min-1, primed by a 0.085 mg kg-1 NaH13CO3 bolus) fat metabolism was measured at fed state and during 24 hours of fasting

Using indirect calorimetri and stable isotope technique: of [D2]-glucose (0.0728 mg kg-1 min-1, primed by a 3.203 mg kg-1 D2- glucose bolus) glucose metabolism was measured at fed state and during 24 hours of fasting

Hormones and metabolites were measured at fed state and during 24 hours of fasting

Glucagon was measured at fed state and during 24 hours of fasting

Epinephrine was measured at fed state and during 24 hours of fasting

Norepinephrine was measured at fed state and during 24 hours of fasting

Palmitate was measured at fed state and during 24 hours of fasting

FFA was measured at fed state and during 24 hours of fasting

Glycerol was measured at fed state and during 24 hours of fasting

Glucose was measured at fed state and during 24 hours of fasting

Pyruvate was measured at fed state and during 24 hours of fasting

β-hydroxybuturatewas measured at fed state and during 24 hours of fasting

Acetoacetate was measured at fed state and during 24 hours of fasting

Mette Cathrine Oerngreen

Rigshospitalet, Denmark

Osteoporosis

Intravenous zoledronic acid 0.025mg/kg at baseline, 6 months, 12 months and 18 months

Zoledronic Acid

Subcutaneous denosumab 1.0mg/kg at baseline, 6 months, 12 months and 18 months

Denosumab

Children's Hospital of Eastern Ontario

Denosumab for the Treatment of Osteoporosis in Children: A Pilot Study

A Single-Blinded, Randomized, Controlled, Phase 2 Pilot Study to Evaluate the Safety and Efficacy of Denosumab Compared to Zoledronic Acid for the Treatment of Osteoporosis in Children

To observe the changes in serum ionized calcium levels at 48 hours following the administration of denosumab versus zoledronic acid. Hypocalcemia at 48 hours has been chosen as the primary outcome since this is a clinically important side effect of both denosumab and zoledronic acid, and 48 hours is around the time of the anticipated calcium nadir

Dr. Leanne Ward

The congenital muscle diseases include congenital muscular dystrophy, congenital myopathy, congenital myasthenic syndrome and bridge into the limb girdle/late onset spectrum. For data collection and analysis, subtype specific reports will be generated. True incidence of the congenital muscle diseases is unknown.

Congenital Muscular Dystrophy (Including Unspecified/Undiagnosed)

Dystroglycanopathy

Congenital Fiber Type Disproportion

Rigid Spine Muscular Dystrophy

Congenital Myopathy (Including Unspecified/Undiagnosed)

Collagen VI CMD (Ullrich CMD, Intermediate, Bethlem Myopathy)

Laminin Alpha 2 Related Congenital Muscular Dystrophy

LAMA2-CMD/Merosin Deficient/MDC1A

Walker-Warburg Syndrome

Muscle-Eye-Brain Disease

Fukuyama/Fukutin Related Muscular Dystrophy

Integrin Alpha 7 Deficiency

Integrin Alpha 9 Deficiency

LMNA-CMD/Lamin A/C/Laminopathy

SEPN1-Related Myopathy

Bethlem Myopathy

Actin Aggregation Myopathy

Cap Disease

Central Core Disease

Centronuclear Myopathy

Core Rod Myopathy

Hyaline Body Myopathy

Multiminicore Myopathy

Myotubular Myopathy

Nemaline Myopathy

Tubular Aggregate Myopathy

Zebra Body Myopathy

Reducing Body Myopathy

Spheroid Body Myopathy

LGMD1B (LMNA)

LGMD1E (DES)

LGMD2G (TCAP)

LGMD2H (TRIM32)

LGMD2I (FKRP)

LGMD2J (TTN)

LGMD2K (POMT1)

LGMD2M (FKTN)

LGMD2N (POMT2)

LGMD2O (POMGnT1)

LGMD2P (DAG1)

LGMD2Q (PLEC1)

LGMD2R (DES)

LGMD2S (TRAPPC11)

LGMD2T (GMPPB)

LGMD2U (ISPD)

LGMD2V (GAA)

Ullrich Congenital Muscular Dystrophy

Titinopathy

Choline Kinase B Receptor

Emery-Dreifuss Muscular Dystrophy

RYR1 Related Myopathy

SYNE1/Nesprin Related Muscular Dystrophy

Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap)

Congenital Myasthenic Syndrome

Escobar Syndrome

Myofibrillar Myopathy

Malignant Hyperthermia

Alpha-Dystroglycan Related Muscular Dystrophy (DAG1, DPM1, DPM2, DPM3, FKRP, FKTN)

Alpha-Dystroglycan Related Muscular Dystrophy (GAA, ISPD, LARGE, POMT1, POMT2, POMGnT1)

Alpha-Dystroglycan Related Muscular Dystrophy (Unspecified/Undiagnosed/Other)

Congenital Muscle Disease International Registry (www.cmdir.org)

Congenital Muscle Disease Study of Patient and Family Reported Medical Information

Congenital Muscle Disease Patient and Proxy Reported Outcome Study

Correlation between genetic and biopsy findings and their relation to phenotypic and adverse event data.

Cure CMD