Diagnosis

Confirmatory genetic testing may be appropriate for anyone with a suspected LC-FAOD diagnosis1

DIAGNOSING LC-FAOD

LC-FAOD is very rare; there are only an estimated 10-15 births per year with a confirmed diagnosis in Canada.1,2 There is an estimated prevalence of 1 in 100,000 in Canada.3-5*

Onset of LC-FAOD symptoms typically occurs during the neonatal period and infancy. However, some patients with slower disease progression may NOT be diagnosed or diagnosed at a later age.6,7

Confirmatory genetic testing may be appropriate for anyone with a suspected LC-FAOD diagnosis based on clinical symptoms, laboratory findings, or a combination of both.8

Screening of genes involved in LC-FAOD—ACADVL, CPT1A, CPT2, HADHA, HADHB, and SLC25A20—are commercially available. Certain LC-FAOD types may require additional mutational analysis.9

*LC-FAOD is a rare disease with limited epidemiological data; therefore, estimates provided here are based on internal data and market research.

Learn more about a program offering no-charge genetic testing to eligible patients suspected of having an LC-FAOD.

NEWBORN SCREENING/TESTING FOR LC-FAOD10

Turnaround times are estimates only and may vary based on testing facility.

Newborn screening has only been available across all provinces and territories since 201811-14

A screening gap persists for CPT I, CPT II, and CACT in several provinces and territories

VLCAD LCHAD TFP CPT I CPT II CACT Start Date
Newfoundland
PEI 2015
Nova Scotia 2005
New Brunswick 2014
Quebec 2018
Ontario 2006
Manitoba 2010
Saskatchewan 2009
Alberta 2007
British Columbia 2009
Yukon
Northwest Territories
Nunavut * * *

*Excluding the Kitikmeot region.

Pediatric mortality was up to 29% in the United States, even with newborn screening15,16

Patients with LC-FAOD face difficult challenges and
substantial medical burdens

When energy balance is disrupted, chronic symptoms and acute episodes burden patients4.6,8

References

1. Newborn Screening Ontario. 2018. Accessed December 18, 2020. https://www.newbornscreening.on.ca/sites/default/files/2018_nso_annual_report_public_final.pdf. 2. Data on file. Ultragenyx Pharmaceutical, Inc. 3. Statistics Canada. Live births, by place of residence of mother. January 12, 2021. Accessed January 12, 2021. https://www150.statcan.gc.ca/t1/tbl1/en/tv.action?pid=1310041401. 4. Merritt JL II, Vockley J. Overview of fatty acid oxidation disorders. UpToDate. Updated September 18, 2020. Accessed January 8, 2020. https://www.uptodate.com/contents/overview-of-fatty-acid-oxidation-disorders. 5. Statistics Canada. Population estimates. October 1, 2020. Accessed December 18, 2020. https://www150.statcan.gc.ca/t1/tbl1/en/tv.action?pid=1710000901. 6. Saudubray JM, Martin D, de Lonlay P, et al. J Inherit Metab Dis. 1999;22(4):488-502. 7. Yamada K, Taketani T. J Hum Genet. 2019;64(2):73-85. 8. Knottnerus SJG, Bleeker JC, Wüst RCI, et al. Rev Endocr Metab Disord. 2018;19(1):93-106. 9. Fatty Acid Oxidation Defects Panel. Invitae website. https://www.invitae.com/en/physician/tests/06165/. Accessed February 6, 2020. 10. Wajner M, Amaral AU. Biosci Rep. 2015;36(1):e00281. 11. Canadian PKU and Allied Disorders Inc. (2015). Newborn Screening in Canada Status Report. https://www.raredisorders.ca/content/uploads/Canada-NBS-status-updated-Sept.-3-2015.pdf. 12. Gouvernement du Québec. (2023). Blood and Urine Screening in Newborns. https://www.quebec.ca/en/health/advice-and-prevention/screening-and-carrier-testing-offer/blood-and-urine- screening-newborns#c197749. 13. Data on file. Ultragenyx Pharmaceutical, Inc. 2024. 14. ImmUnity Canada and the Network for Rare Blood Disorder Organizations (NRBDO). Timing is Everything: Toward a national newborn screening program for rare disorders. 2023. https://www.nrbdo.ca/uploads/8/5/3/9/8539131/newborn_screening_report_jan_2023_for_web.pdf. 15. Feuchtbaum L, et al.Genet Med. 2018;20(8):831-839. 16. Roe C, Brunengraber H. Mol Genet Metab. 2015;116(4):260-268.

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