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Uncover the Cause of Early-Onset Bilateral Cataracts

You may be your patient’s best hope for diagnosing a rare but treatable disease.1-3

Early-onset bilateral cataracts are a hallmark symptom in 85% of patients with Cerebrotendinous Xanthomatosis (CTX), a genetic lipid storage disorder.4

Doctor examining boy. Not Actual Patients or Healthcare providers.

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Diagnosing CTX can be challenging

CTX diagnosis typically occurs 20 to 25 years after the onset of symptoms.3

CTX causes excess bile acid precursors, such as cholestanol, to accumulate near the lens of the eye, leading to cataract morphology described as posterior subcapsular with fleck deposits.3,5,6

Early-onset bilateral cataracts are a hallmark CTX symptom that may appear as early as childhood. Yet mean age at CTX diagnosis is 35.5 years (±11.8 years). Other CTX signs and symptoms are either nonspecific or most often occur after the first decade of life.2,3,5,7,8

Potential CTX and Signs ans Symptoms

Early treatment can potentially lead to better outcomes for these patients, which is why early testing is critical.3

Early-onset bilateral cataracts may be an important marker for identifying CTX

Up to a 500-fold higher CTX prevalence than in the general population12

~2 of every 100 patients with early-onset bilateral cataracts were diagnosed with CTX12

A no-cost patient genetic test is available to identify up to 66 causes of early-onset bilateral cataracts13

Genes included on the Early-Onset Bilateral Cataracts GeneticPanel13

ABHD12

ADAMTSL4

ALDH18A1

BCOR

BEST1

BFSP1

BFSP2

CHMP4B

COL11A1

COL18A1

COL2A1

COL4A1

CRYAA

CRYAB

CRYBA1

CRYBA2

CRYBA4

CRYBB1

CRYBB2

CRYGC

CRYGD

CRYGS

CYP27A1

DYNC1H1

EPHA2

ERCC2

FAM126A

FOXE3

FTL

FYCO1

FZD4

GALE

GALK1

GALT

GCNT2

GJA3

GJA8

GLA

HSF4

LEMD2

LIM2

LONP1

MAF

MIP

MIR184

MYH9

NACC1

NDP

NF2

NHS

OPA3

PAX6

PITX3

P3H2

RAB3GAP1

RDH11

RECQL4

SC5D

SIL1

SLC16A12

TFAP2A

TGM3

UNC45B

VIM

WRN

XYLT2

CTX is treatable. If positive for pathogenic mutations in CYP27A1, then refer patient for CTX management

CTX is caused by pathogenic mutations in CYP27A1. Specialists that manage CTX include neurologists and metabolic geneticists.

You may be the key to diagnosing CTX earlier1-3

Know the cause of early-onset bilateral cataracts so patients with CTX can be treated sooner

Earlier diagnosis and treatment of CTX can potentially lead to better outcomes.3

Mirum Pharmaceuticals offers a no-cost Early-Onset Bilateral Cataracts Genetic Panel for patients†

Prevention Genetics

Mirum Pharmaceuticals has partnered with PreventionGenetics, a College of American Pathologists–accredited laboratory‡

Flexibility of different genetic test samples: 1) saliva, 2) buccal swab, or 3) blood

Get results in 2-4 weeks

Genetic Test Kit for Patients With Early-Onset Bilateral Cataracts

While you may choose to collect a sample in your office, kits that
help patients collect and ship their saliva and buccal samples can
also be sent directly to their homes.

The videos below explain to your patients exactly how to do it.

Saliva collection video

Share this link with your patients so they can watch the saliva
collection video at home.

Buccal swab collection video

Share this link with your patients so they can watch the buccal
swab collection video at home.

If you’d like to give your patients printed instructions with
detailed illustrations, you can download and share these
collection flyers. These instructions will also be included in the
test kit that is sent directly to a patient’s home.

Saliva collection flyer

Download and share this saliva collection flyer.

Buccal swab collection flyer

Download and share this buccal swab collection flyer.

Educational patient brochure

To provide your patients with overall information about CTX and the genetic test, download and share this patient brochure. This brochure will also be included in the test kit that is sent directly to a patient’s home.

Patients should meet the following criteria†:

18 months to 35 years

18 months to 35 years of age

Current or history of idiopathic bilateral cataracts§

Residence in United States

Early-Onset Bilateral Cataracts Genetic Panel

Order the Early-Onset Bilateral Cataracts Genetic Panel, available to your patients at no cost.

If the test comes back positive for CTX, treat cataracts, continue to monitor, and refer your patient to a neurologist or metabolic geneticist for CTX management.

†Program may be cancelled or changed at any time.

‡Note that Mirum Pharmaceuticals cites the above-named external testing resource for information purposes only, and does not endorse or guarantee in any way the services or advice provided by them.

§Not known to be due to infectious causes, trauma, etc.

References:  1. Raymond GV, Schiffmann R. Cerebrotendinous xanthomatosis: the rare “treatable” disease you never consider. Neurology. 2019;92(2):61-62.  2. Lorincz MT, Rainier S, Thomas D, Fink JK. Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized. Arch Neurol. 2005;62(9):1459-1463.  3. Mignarri A, Gallus GN, Dotti MT, Federico A. A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. J Inherit Metab Dis. 2014;37(3):421-429.  4. Gallus GN, Dotti M, Federico A. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. Neurol Sci. 2006;27(2):143-149.  5. Verrips A, van Engelen BG, Wevers RA, et al. Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis. Arch Neurol. 2000;57(4):520-524.  6. Khan AO, Aldahmesh MA, Mohamed JY, Alkuraya FS. Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis. Ophthalmology. 2013;120(5):956-960.  7. Clayton PT, Verrips A, Sistermans E, Mann A, Mieli-Vergani G, Wevers R. Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis. J Inherit Metab Dis. 2002;25(6):501-513. 8. Farpour H, Mahloudji M. Familial cerebrotendinous xanthomatosis. Report of a new family and review of the literature. Arch Neurol. 1975;32(4):223-225. 9. Fraidakis MJ. Psychiatric manifestations in cerebrotendinous xanthomatosis. Transl Psychiatry. 2013;e302. 10. Verrips A, Hoefsloot LH, Steenbergen GCH, et al. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain. 2000;123(pt 5):908-919. 11. Federico A, Dotti MT, Gallus GN. Cerebrotendinous xanthomatosis. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle. 1993-2020. Updated April 14, 2016. Accessed October 26, 2020. http://www.ncbi.nlm.nih.gov/books/NBK1409/ 12. Freedman SF, Brennand C, Chiang J, et al. Prevalence of cerebrotendinous xanthomatosis among patients diagnosed with acquired juvenile-onset idiopathic bilateral cataracts. JAMA Ophthalmol. 2019;137(11):1312-1316.  13. PreventionGenetics Panel Data.