None listed
Conditions
Interventions
Drug : Given that there are a small number of FAOD patients (occurring in 1 in 3,000 patients), phase 2 open clinical trials are the only alternative to choice. Therefore, randomized studies or patien
Sponsors
Asan Medical Center
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. A Korean with long chain-FAODs confirmed by biochemical and genetic study and 2. at least 6 months of age or older and 3. any of the following severe manifestations by FAOD; · episodic CK elevation with myopathic clinical symptom and sign (dark urine, muscle cramps or pain, respiratory dysfunction, weakness, general fatigue, nausea, and poor oral intake etc.) · Chronic CK elevation with or without myopathic clinical symptom and sign (at least 3 months or longer). · severe susceptibility to hypoglycemia · cardiomyopathy
Exclusion criteria
Exclusion criteria: Subjects should not enter the study if any of the following exclusion criteria are fulfilled: 1) Involvement in the planning and/or conduct of the study (applies to both Investigator staff and/or staff at the study site) 2) Participation in another clinical study with an investigational product during the last 6 months. 3) Patients with conditions for which triheptanoin treatment is contraindicated (i.e. medium-chain acyl-CoA dehydrogenase [MCAD] deficiencies; short- or medium-chain FAOD, ketone body metabolism defects, propionic acidemia or methylmalonic acidemia). 4) Evidence of serious active infection. - Positive hepatitis C antibody hepatitis B virus surface antigen or hepatitis B virus core antibody, at screening - Known to have tested positive for human immunodeficiency virus 5) Cardiac conditions as follows: • Symptomatic heart failure NYHA Class III-IV • Arrhythmia requiring anti-arrhythmogenic medications • Clinically significant pericardial disease • Severe uncontrollable cardiovascular disease such as cardiac amyloidosis 6) Uncontrolled concommitaentconcommitent illness or mental illness/social situation that limits compliance with study requirements. 7) A history of surgery (surgery requiring hospitalization for at least 3 days) within 28 days before enrolment. 8) Patients who in the opinion of the investigator may not be unable to complete all study visits or procedures required in the protocol 9) Pregnant or breast-feeding women or women with positive pregnancy test at screening visit 10) Male or female patients of reproductive potential and, as judged by the investigator, are not employing an effective method of birth control. 11) Patients who in the opinion of the investigator may not be able to comply with the safety monitoring requirements of the study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To evaluate the safety of UX007 in Korean patients with long chain FAOD | — |
Secondary
| Measure | Time frame |
|---|---|
| To determine the effect of UX007 on the number, duration and severity of total admissions due to major metabolic episodes by FAOD: Rhabdomyolysis, cardiomyopathy, hypoglycaemia, hepatic dysfunction. | — |
Countries
Korea, Republic of
Contacts
Public ContactJunYoung Kim
Asan Medical Center
Outcome results
None listed