This trial is evaluating whether MT-7117 will improve 3 primary outcomes in patients with EPP. Measurement will happen over the course of up to a maximum 24 months.
This trial requires 175 total participants across 1 different treatment group
This trial involves a single treatment. MT-7117 is the primary treatment being studied. Participants will all receive the same treatment. There is no placebo group. The treatments being tested are in Phase 3 and have had some early promising results.
"Clinical improvement is evident within 1 yr of administration of FeNPH and suggests that biochemical correction of the disorder may be achievable. Because of its early onset, this condition is attractive for early diagnosis of PKU." - Anonymous Online Contributor
"Ferrochelatase deficiency occurs later in life than previously thought. It is an emerging disease that presents frequently with gastrointestinal bleeding, fatigue, and anemia that may lead to anemia, iron deficiency, and bone marrow blast count < 5%. Since it is more common in women and more often fatal than suspected, clinicians are urged to be alert or suspect this disorder in any adult with a deficiency of hemochromatosis protein, and should order serum transferrin and ferritin, and a peripheral blood smear." - Anonymous Online Contributor
"There are less than 200 documented patients per year in the US. The incidence rate in the general population would be less than one case per million person-years. One estimate is that a person born between 1947 and 1967 with the condition would expect about 1.5 lifetime cases in the US." - Anonymous Online Contributor
"The study of the ferrochelatases will allow us to determine the correct timing for iron chelation therapy and will allow us to determine if the diagnosis of these entities can be made in utero, with the potential for early detection of diseases like iron deficiency anemia in infants and children. We could also confirm the potential of pharmacologically modulating the ferrochelatases in the hopes of preserving iron stores in the liver. We believe that this could significantly improve iron storage and may help improve the quality of life for these disorders." - Anonymous Online Contributor
"In many cases, symptoms are subtle and not apparent till after puberty. They are present in various forms. Many patients complain of chronic diarrhea, dysentery and weight loss with recurrent abdominal complaints. Some patients experience fatigue and/or lethargy. Many also experience recurrent infections and opportunistic infections and may have some skeletal problems. In some patients, severe intellectual disability is experienced through the late adolescent years, with epilepsy and seizures. Those with severe neutropenia usually have no symptoms. Others have experienced skin conditions. Those of Middle Eastern-Jamaican descent are at high risk of having some of these symptoms." - Anonymous Online Contributor
"Ferrochelatase deficiency (pyridoxine-refractory and/or piechaud's syndrome) results from defects in the expression of the gene that encodes it, or defective enzymes. The enzyme that is deficient in pyridoxine-refractory, piechaud's and erythroblastic variants is a manganese-dependent enzyme that is involved in the fifth step of heme biosynthesis. Ferrochelatases also may play a role in maintaining the integrity of peripheral tissues." - Anonymous Online Contributor
"These data suggest that no effective regimen or dose range has been identified. A larger, more appropriately powered study involving different drug targets and dosages of mt-7117 is now warranted." - Anonymous Online Contributor
"These data demonstrate that both FEX and MT-7118 can be efficacious in reducing disease in patients with ferrochelatase-deficient MDS. Combining these agents with erythropoietin and autologous HLA-mismatched HLA-mobilized donors has therapeutic potential that may extend beyond those with iron overload. In fact, the therapeutic potential afforded by this approach suggests a role for these agents in future allogeneic stem cell transplantation protocols for MDS." - Anonymous Online Contributor
"Most patients with mitochondrial complex I and III deficiency can show some improvement. In a minority, the symptoms remain and medication is only marginally more effective than placebo. A more conservative view of this disorder may be that it mostly results in some modest but clinically significant improvement." - Anonymous Online Contributor
"[Long term oral exposure in mice to mt-7117 was associated with liver damage, kidney damage, loss of body weight and weight fluctuation, but no neurological complications were observed.] If there was no significant toxicity observed, in rats, then it is plausible that there will be no side effects or toxicity in patients. It is also suspected that there is no or very little interaction between human cytochrome b gene and mt-7117." - Anonymous Online Contributor
"MT-7117 is an extremely potent anticancer agent. In a recent study, findings are the first demonstration that the anticancer properties of MT-7117 are mediated, at least in part, through inhibition of ferrochelatase. In a recent study, findings suggest that MT-7117 may have therapeutic potential in the treatment of certain tumors." - Anonymous Online Contributor
"Oncologists need to be vigilant during the time when young adult patients present with signs and symptoms of hemolytic anemia. If hemolytic anemia is suspected, ferrochelatase activity should be measured to exclude a deficiency in an otherwise healthy adult patient. In patients who are being tested for iron overload, a history of ferrochelatase deficiency should be investigated. The use of a diagnostic algorithm such as the ISMIRCHE criteria can be a valuable first stop in order to diagnose ferrochelatase deficiency." - Anonymous Online Contributor