The study was undertaken to evaluate the safety and efficacy of aglucosidase alfa  in juvenile and adult patients with Pompe disease. LOTS was a randomized, double-blind, placebo-controlled study that enrolled 90 patients at eight primary sites in the United States and Europe. Participants received either aglucosidase alfa or a placebo every other week for 18 months. The average age of study participants was 44 years. The primary efficacy endpoints of the study sought to determine the effect of Myozyme on functional endurance as measured by the six-minute walk test and to determine the effect of aglucosidase alfa on pulmonary function as measured by percent predicted forced vital capacity. The results showed that, at 78 weeks, patients treated with aglucosidase alfa  increased their distance walked in six minutes by an average of approximately 25 meters as compared with the placebo group which declined by 3 meters (P=0.03). The placebo group did not show any improvement from baseline. The average baseline distance walked in six minutes in both groups was approximately 325 meters. Percent predicted forced vital capacity in the group of patients treated with aglucosidase alfa increased by 1.2 percent at 78 weeks. In contrast, it declined by approximately 2.2 percent in the placebo group (P=0.006). There is an emerging recognition of the role that diet and exercise can play in functionally limiting symptom progression.
Juvenile hemochromatosis, also known as hemochromatosis type 2, is a rare form of hereditary hemochromatosis, which emerges in young individuals, typically between 15 and 30 years of age, but occasionally later. It is characterized by an inability to control how much iron is absorbed by the body, in turn leading to iron overload, where excess iron accumulates in many areas of the body and causes damage to the places it accumulates.It is a genetic disorder that can be caused by mutations in either the HJV (also called HFE2) or HAMP genes, and is inherited in an autosomal recessive fashion. Depending on which of these genes is affected, the disease can be further subdivided into types 2A and 2B. Signs and Symptoms
The most common symptoms of juvenile hemochromatosis are as follows:
Weakness
Lethargy
Hyperpigmentation (darkening of the skin)
Arthropathy (joint disease)
Diabetes
Heart disease (dilated cardiomyopathy). Complications of heart disease are the main cause of death in those with untreated hemochromatosis. Hypogonadism (reduced activity of the genitals), which may result in decreased libido and infertility
Amenorrhea in females
Erectile dysfunction in males
Loss of appetite
Increased risk of infection by certain bacteria including V. vulnificus.Other common complications include:

Congenital hepatic fibrosisLess common symptoms and complications include:

Osteoporosis
Hepatomegaly (liver enlargement)
Liver cirrhosis
Cardiac arrhythmias
Hypothyroidism
Adrenocortical insufficiency

Genetics
Juvenile hemochromatosis can be caused by inheriting two mutated copies (alleles), one from each parent, of the genes for the proteins hemojuvelin (HFE2/HJV) or hepcidin (HAMP), and the disease can be subdivided into hemochromatosis types 2A and 2B according to which gene/protein is affected.