muscle weakness/seizures

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Efficacy of Sunlight Activated Synthetic Porphyrin in COVID-19 Infected Patients

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Ingia / Ingia

Efficacy of Sunlight Activated Synthetic Porphyrin in COVID-19 Infected Patients (SnPPIX) Official Title: Efficacy of Based MRI Contrast Media Against Covid-19 _____________________________________________________________________________________________

The PORTRAIT Study

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Ingia / Ingia

Hypophosphatasia (HPP) is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene with deficiency in TNSALP activity. This leads to accumulation of inorganic pyrophosphate, a potent inhibitor of bone mineralization, which causes rickets and osteomalacia, and of pyridoxal

Effects of Lower Extremities Cycling Functional Electrıcal Stimulation Training in Cerebral Palsy

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Ingia / Ingia

Cerebral palsy (CP) is a broadly-defined neurological disorder that encompasses brain injury or malformation in a child's brain that occurs before, during, or immediately after birth and results in impaired motor control. Because of the broad definition of CP, people with CP can exhibit a very wide

Rescue of Infants With MCT8 Deficiency

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Ingia / Ingia

MCT8 deficiency (that is also known as Allan-Herndon-Dudley syndrome) is a rare X-linked inherited disorder of brain development that causes severe intellectual disability and problems with movement. This condition, which occurs almost exclusively in males, disrupts development from before birth.

The Efficacy of 20 mg Parecoxib as an Adjunct to 0.75% Ropivacaine in Supraclavicular Brachial Plexus Block for Upper Limb Surgery

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Ingia / Ingia

Brachial plexus block (BPB) has enjoyed ubiquitous popularity for upper limb surgeries.There are a few common techniques for BPB and one of the most frequently-utilised one is supraclavicular BPB since it provides a quick-onset, efficient, safe and dense anaesthesia for surgical procedures that

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

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Ingia / Ingia

Duchenne muscular dystrophy (DMD) is a genetically determined X-linked disease. The manifestation of muscle weakness typically starts around the age of 4-5 in males and deteriorates fast. Typically muscle loss occurs first in the upper legs and pelvis followed by muscles of the upper arms. It is

Biomarker for Creatine Deficiency Syndromes (BioCDS)

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Ingia / Ingia

The Creatine Deficiency Syndromes (CDS) are a group of inborn errors of metabolism which interrupt the biosynthesis or transportation of creatine. Individuals with CDS classically present neurological symptoms (seizures, movement disorders and myopathy), and behavioral manifestations. This group

GDF-15 as a Biomarker for Mitochondrial Disease

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Ingia / Ingia

BACKGROUND Energy insufficiency: Mitochondrial and metabolic myopathies are inherited diseases compromising cellular energy metabolism, which especially affects skeletal muscle because of its high energy needs. Chemical energy is stored in the body as adenosine triphosphate (ATP), which is derived

Health Burden of Hypophosphatasia

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Ingia / Ingia

This is an observational retrospective study to describe the clinical problems and healthcare use of adults and children with hypophosphatasia. Interviews will be conducted with patients with childhood- and adult-onset hypophosphatasia (and the parents of the children). Hospital notes, appointment

Biomarker for Gangliosidosis: BioGM1/BioGM2 (BioGM1/GM2)

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Ingia / Ingia

Gangliosidosis: Gangliosides are complex compunds consisting of a glycosphingolipid and a sialic acid and are located at the cell surface where they are responsible for detecting extracellular molecules. Gangliosides are mainly located in the nervous system. If gangliosides accumulate pathologically

Non-interventional Substudy of ALX-HPP-502 to Assess Natural History of Patients With Juvenile-onset HPP Who Served as Historical Controls in ENB-006-09

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Ingia / Ingia

Hypophosphatasia (HPP) is a life-threatening, genetic, and ultra-rare metabolic disease characterized by defective bone mineralization and impaired phosphate and calcium regulation that can lead to progressive damage to multiple vital organs, including destruction and deformity of bones, profound

Retrospective, Non-interventional Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP)

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Ingia / Ingia

Controlled Trial of 3,4-Diaminopyridine (3-4DAP) in Lambert-Eaton Myasthenic Syndrome (LEMS)

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Ingia / Ingia

More than half of LEMS cases are associated with malignancy, usually small cell lung cancer. These paraneoplastic cases progress more quickly than primary autoimmune LEMS. An overlap syndrome with other autoimmune diseases is often detected in LEMS patients. 3,4 DAP is effective in LEMS because it

LAMA2-related Muscular Dystrophy Brain Study

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Ingia / Ingia

LAMA2-MD is a congenital muscular dystrophy (CMD) subtype caused by mutations in the laminin alpha 2 gene. LAMA2-MD may present clinically as an early onset, severe phenotype or a late onset limb girdle phenotype. The early onset form is most commonly associated with a complete absence of merosin on

North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)

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Ingia / Ingia

Mitochondrial diseases comprise a group of relatively rare (~1 in 5000 adults) but very serious genetic disorders. Mitochondria are often called the "powerhouses of the cell" because they provide the energy our cells need to live. Mitochondria have their own DNA (mtDNA), but they also rely on DNA

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