This study is in progress, not accepting new patients

Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program

a study on Fatty Acid Oxidation Disorders Myopathy Neuropathy

Summary

Location
at UCSF
Dates
study started
study ends around

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 Disease Monitoring Program (DMP) is an international, long-term, retrospective and prospective outcomes study aiming to collect safety and effectiveness data for triheptanoin and the natural history of LC-FAOD for a study duration of up to 10 years from adult and pediatric patients with LC-FAOD, with any previous disease management, regardless of prior treatment with triheptanoin, those who have previously participated in triheptanoin clinical trials, and those who received triheptanoin through an 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 have access to triheptanoin only 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, Carnitine-Acylcarnitine Translocase Deficiency, VLCAD deficiency, Trifunctional Protein Deficiency With Myopathy And Neuropathy, Triheptanoin Naïve

Eligibility

You can join if…

  • Confirmed diagnosis of any LC-FAOD subtype. Diagnosis must be confirmed by results of acylcarnitine profiles and/or genetic testing results obtained from medical records or equivalent documentation.
  • Willing and able to comply with all study procedures.
  • Willing and able to provide consent or, if a minor, provide assent and informed consent by their legally authorized representative.
  • Females of childbearing 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.

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
    San Francisco California 94158 United States
  • Phoenix Children's Hospital
    Phoenix Arizona 85016 United States

Details

Status
in progress, not accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Ultragenyx Pharmaceutical Inc
Links
Ultragenyx Patient Advocacy/LC-FAOD Disease Information Ultragenyx Transparency Commitment
ID
NCT04632953
Study Type
Observational
Participants
About 150 people participating
Last Updated