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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04632953
Recruitment Status : Recruiting
First Posted : November 17, 2020
Last Update Posted : May 26, 2023
Sponsor:
Information provided by (Responsible Party):
Ultragenyx Pharmaceutical Inc

Study Description
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Brief 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.

Condition or disease Intervention/treatment
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) Other: No Intervention

Detailed Description:

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.

Study Design
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Study Type : Observational
Estimated Enrollment : 300 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program (LC-FAOD DMP)
Actual Study Start Date : November 30, 2021
Estimated Primary Completion Date : March 2031
Estimated Study Completion Date : March 2031

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort Intervention/treatment
Previously Treated with Triheptanoin
Patients who have been previously treated with triheptanoin in clinical studies: UX007-CL201 (NCT01886378), UX007-CL202 (NCT02214160), Investigator Sponsored Trials (ISTs), or UX007-EAP (NCT03773770).
 Other: No Intervention
No Intervention
Currently Treated with Triheptanoin
New patients enrolling into the DMP currently being treated with triheptanoin (excluding those in the previously treated with triheptanoin cohort).
 Other: No Intervention
No Intervention
Triheptanoin Naïve
New patients enrolling into the DMP with no exposure to triheptanoin.
 Other: No Intervention
No Intervention
Triheptanoin Naïve Transitioned toTriheptanoin
Patients already enrolled into the triheptanoin naïve cohort but transition to triheptanoin during the DMP after enrollment.
 Other: No Intervention
No Intervention


Outcome Measures
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Primary Outcome Measures :
  1. Long-Term Safety of Patients with LC-FAOD as Assessed by Incidence of Serious Adverse Events (SAEs) and Adverse Events (AEs) During Pregnancy for all Patients with LC-FAOD [ Time Frame: 10 years ]
  2. Long-Term Safety of Patients with LC-FAOD as Assessed by Neonate and Infant Outcomes from Pregnancy Throughout the First Year of Life [ Time Frame: 10 years ]
  3. Long-Term Safety of Patients with LC-FAOD as Assessed by Incidence of SAEs Assessed as Related to Triheptanoin Treatment by Study Investigator [ Time Frame: 10 years ]
  4. Long-Term Safety of Patients with LC-FAOD as Assessed by Incidence of all Colon Cancer or Gastrointestinal (GI) Cancer, GI Dysplasia, and GI Neoplasia, SAE's and AEs Reported for all Patients with LC-FAOD [ Time Frame: 10 years ]
  5. Long-Term Safety of Patients with LC-FAOD as Assessed by Incidence of all SAEs and AEs in Nursing Mothers and Their Breast-Milk-Fed Infants [ Time Frame: 10 years ]

Secondary Outcome Measures :
  1. Long-term Effectiveness of Triheptanoin in Patients with LC-FAOD as Assessed by Major Clinical Events (MCEs) [ Time Frame: 10 years ]
    Number and duration of MCEs, including rhabdomyolysis, cardiomyopathy, liver damage, and hypoglycemia

  2. Long-term Effectiveness of Triheptanoin in Patients with LC-FAOD as Assessed by Hospitalizations [ Time Frame: 10 years ]
  3. Long-term Effectiveness of Triheptanoin in Patients with LC-FAOD as Assessed by Mortality [ Time Frame: 10 years ]
  4. Long-term Effectiveness of Triheptanoin in Patients with LC-FAOD as Assessed by Cardiac Biomarkers [ Time Frame: 10 years ]
    Cardiac biomarker assessments include B-type natriuretic peptide (BNP), Serum Troponin (Total &TP-1)

  5. Long-term Effectiveness of Triheptanoin in Patients with LC-FAOD as Assessed by 12-Minute Walk Test (12MWT) [ Time Frame: 10 years ]
  6. Long-term Effectiveness of Triheptanoin in Patients with LC-FAOD as Assessed by Time to First MCE in Newborns and Pediatrics [ Time Frame: 10 Years ]
  7. Long-term Effectiveness of Triheptanoin in Patients with LC-FAOD as Assessed by Height/Recumbent Length [ Time Frame: 10 years ]
  8. Long-term Effectiveness of Triheptanoin in Patients with LC-FAOD as Assessed by Weight [ Time Frame: 10 years ]
  9. Long-term Effectiveness of Triheptanoin in Patients with LC-FAOD as Assessed by Head Circumference [ Time Frame: 10 years ]
  10. Long-term Effectiveness of Triheptanoin in Patients with LC-FAOD as Assessed by Abdominal Circumference [ Time Frame: 10 years ]
  11. Long-term Effectiveness of Triheptanoin in Patients with LC-FAOD as Assessed by Health-Related Quality of Life [ Time Frame: 10 years ]
    As measured by the Infant and Toddler Quality of Life (ITQOL)

  12. Long-term Effectiveness of Triheptanoin in Patients with LC-FAOD as Assessed by Health-Related Quality of Life [ Time Frame: 10 years ]
    As measured by the Medical Outcomes Study 10-Item Short Form (SF-10)

  13. Long-term Effectiveness of Triheptanoin in Patients with LC-FAOD as Assessed by Health-Related Quality of Life [ Time Frame: 10 years ]
    As measured by the Medical Outcomes Study 12-Item Short Form (SF-12) assessments

  14. Long-term Effectiveness of Triheptanoin in Patients with LC-FAOD as Assessed by Health-Related Quality of Life [ Time Frame: 10 years ]
    As measured by the EuroQoL Eq-5D-5L instrument

  15. Long-term Effectiveness of Triheptanoin in Patient with LC-FAOD as Assessed by Health-Related Quality of Life [ Time Frame: 10 years ]
    As measured by the clinical global impression of severity (CGI-S) assessment


Eligibility Criteria
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Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Approximately 300 patients, either treated or untreated with triheptanoin, will be enrolled for this study.
Criteria

Inclusion Criteria:

  • 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.

Exclusion Criteria:

  • 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.
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04632953


Contacts
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Contact: Patients Contact: Trial Recruitment 1-888-756-8657 trialrecruitment@ultragenyx.com
Contact: HCPs Contact: Medical Information 1-888-756-8657 medinfo@ultragenyx.com

Locations
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United States, California
University of California San Francisco Recruiting
San Francisco, California, United States, 94158
United States, Florida
University of South Florida Recruiting
Tampa, Florida, United States, 33606
United States, Georgia
The Emory Clinic Recruiting
Atlanta, Georgia, United States, 30322
United States, Illinois
Ann & Robert H. Lurie Children's Hospital Recruiting
Chicago, Illinois, United States, 60611
United States, Minnesota
University of Minnesota Recruiting
Minneapolis, Minnesota, United States, 55454
United States, Pennsylvania
Children's Hospital of Pittsburgh of UPMC Recruiting
Pittsburgh, Pennsylvania, United States, 15224
Canada, Ontario
The Hospital for Sick Children Recruiting
Toronto, Ontario, Canada, M5G1X8
Sponsors and Collaborators
Ultragenyx Pharmaceutical Inc
Investigators
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Study Director: Medical Director Ultragenyx Pharmaceutical Inc
More Information
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Additional Information:

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Responsible Party: Ultragenyx Pharmaceutical Inc
ClinicalTrials.gov Identifier: NCT04632953    
Other Study ID Numbers: UX007-CL401
First Posted: November 17, 2020    Key Record Dates
Last Update Posted: May 26, 2023
Last Verified: May 2023

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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Ultragenyx Pharmaceutical Inc:
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
Additional relevant MeSH terms:
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Disease
Pathologic Processes