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Mastication training in adult patients with mitochondrial diseases: a pilot study.

The aim of this pilot study is to assess the effect of low intensity mastication training in patients with a mitochondrial disease on masticatory performance, efficacy, endurance, bite force and the feasibility of this training .

6 minutes assisted leg and arm cycling test: feasibility, validity, test-retest responsivity and responsivity in patients with neuromuscular and metabolic disorders

2.1 Primary Objectives: 1) To test the feasibility of the six minute assisted leg and arm cycling test in patients aged 6-18 years with Duchenne muscular dystrophy (DMD), Beckers muscular dystrophy (BMD), Limb Girdle muscular dystrophy (LGMD),…

A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)

To evaluate the long-term safety and efficacy of BMN 110 administration at 2.0 mg/kg/qw and 2.0 mg/kg/qow in patients with MPS IVA.

KETOMY: trail, Safety, efficacy and feasibility of ketogenic diet in mitochondrial myopathy,

Objective: Our proposed pilot study explores the safety, feasibility and efficacy of ketogenic diet in adults with mitochondrial myopathy to improve exercise intolerence and look for biomarkers that might predict patient response to the MAD…

Short-term safety and efficacy of ketohexokinase inhibition in patients with hereditary fructose intolerance

To study the effects of PF-06835919 on fructose tolerance and intrahepatic lipid content in patients with HFI.

An exploratory matched case-control study to measure blood nutrient levels of adult PKU patients on a protein substitute.

The study*s main objective is to measure blood micro- and macronutrient and amino acid levels in adults with PKU on a protein substitute and compare with age- and sex-matched non-PKU comparison subjects.