Summary

Location
at San Francisco, California and other locations
Dates
study started
estimated completion

Description

Summary

The primary objective of this study is to assess the long-term safety, including pregnancy, infant, and lactation outcomes, of patients with LC-FAOD who are enrolled in the DMP.

Official Title

Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program (LC-FAOD DMP)

Details

The LC-FAOD DMP is a global observational long-term prospective outcomes study aiming to collect information for up to 10 years from adult and pediatric patients with LC-FAOD, regardless of disease management, including treatment with triheptanoin, and those who have previously participated in triheptanoin clinical trials or Expanded Access Program (EAP). Patients enrolling in the LC-FAOD DMP will be managed at the discretion of their physicians and may or may not be treated with triheptanoin during the course of the study. Patients will only have access to triheptanoin through authorized commercial use (if approved in their country) or available EAP but not from the LC-FAOD DMP itself.

Keywords

Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) CACT Deficiency Carnitine Acylcarnitine Translocase Deficiency CPT1 CPT2 Carnitine Palmitoyltransferase Deficiencies VLCAD Very Long Chain Acyl Coa Dehydrogenase Deficiency LCHAD Deficiency Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency TFP Deficiency Trifunctional Protein Deficiency Disease Triheptanoin Naïve Triheptanoin Naïve Transitioned toTriheptanoin

Eligibility

You can join if…

  • Confirmed diagnosis of any LC-FAOD sub-type. Diagnosis must be confirmed by results of acylcarnitine profiles, and/or mutation analysis obtained from medical records or equivalent documentation.
  • Willing and able to comply with all study procedures.
  • Willing and able to provide written informed consent after the nature of the study has been explained, and prior to any research-related procedures. For minors (<16 or<18 years of age, as defined by region) willing and able (if possible) to provide written assent and have a legally authorized representative willing and able to provide written informed consent after the nature of the study has been explained, and prior to any research-related procedures.
  • Female of child-bearing potential who become pregnant during the study will be invited to remain in the study. Pregnant females with LC-FAOD will be informed of the study and invited to enroll.
  • Pregnant females carrying affected fetus(es) with confirmed pre-natal diagnosis of LC-FAOD, will also be informed of the study and invited to enroll.

You CAN'T join if...

  • Presence of a concurrent disease or condition that would interfere with study participation or affect patient's safety in the opinion of the Investigator.
  • Presence or history of any condition that, in the view of the Investigator, places the patient at high risk of not completing the study or would affect the interpretation of study results.

Locations

  • University of California San Francisco accepting new patients
    San Francisco California 94158 United States
  • University of Minnesota accepting new patients
    Minneapolis Minnesota 55455 United States

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Ultragenyx Pharmaceutical Inc
Links
Ultragenyx Patient Advocacy/LC-FAOD Disease Information
ID
NCT04632953
Study Type
Observational
Participants
Expecting 300 study participants
Last Updated