Testing for dystrophic epidermolysis bullosa (DEB)
It’s critical to properly determine if a patient has DEB so that its unique and serious complications can be proactively managed
Symptoms2-5
- Relying on symptoms alone leads to an incomplete diagnosis because symptoms can overlap across EB types and across non-EB blistering skin conditions
Biopsy1
- Though speed of biopsy is critical in some instances, and biopsy can be a useful step in diagnosing DEB, it’s only as reliable as the skin sample taken, and results can sometimes be inconclusive
- DEB subtype (RDEB and DDEB) is difficult to determine through biopsy and may not provide sufficient prognostic information
Genetic Testing1
The preferred and guideline-recommended approach for an accurate diagnosis. EB type is linked to mutations in different genes, making genetic testing the most accurate way to confirm type.
- Genetic testing can pinpoint mutations in the COL7A1 gene and most accurately identify DEB
- The patient and patients’ parents (when possible) should be tested to provide reliable genetic counseling and risk calculation for family members and offspring
- The pathogenic sequence variants will provide clarity about the definitive diagnosis, prognosis, and inheritance for the patient and patients’ family
- Genetic testing can easily be done by analyzing blood, saliva, or buccal smear (cheek swab)
Guidelines recommend genetic testing1
DEBRA International Clinical Practice Guidelines specify that genetic testing is always recommended for the diagnosis of EB type
Despite being guideline-recommended,
ONLY 56% OF PATIENTS WITH EB
have had genetic testing to confirm type5
DEBRA=Dystrophic Epidermolysis Bullosa Research Association.
Cost can be a barrier to genetic testing, but sponsored testing is now available for eligible patients.
Learn about Decode DEBTM
An accurate DEB diagnosis through genetic testing can inform proactive disease management1,5-7
Genetic testing can accurately identify DEB type—both RDEB and DDEB. An early diagnosis and understanding of DEB severity can enable:
Proactive care that can include multidisciplinary care engagement such as psychological support for patients and families
Early surveillance and intervention for squamous cell carcinoma (SCC), internal complications, and mental health risks
Comprehensive family planning, from understanding the heritability and burden of DEB to prenatal testing and preimplantation testing to learn the prognosis of a child
Inclusion in clinical trials to provide patients the potential opportunity for access to investigational treatment
An accurate DEB diagnosis through genetic testing can enable proactive care
Decode DEBTM provides simple no-charge genetic testing to eligible patients through GeneDx.
The Decode DEBTM program can shorten the time to diagnosis for DEB patients and empower informed healthcare decisions to facilitate the delivery of proactive care.
Patients are eligible if they meet all 3 criteria:
- Have symptoms consistent with epidermolysis bullosa
- Have not had previous genetic testing for epidermolysis bullosa
- Are residents of the United States or Puerto Rico
How Decode DEBTM* works
Order sample collection kit and fill out Test Requisition Form (TRF)
Through Decode DEBTM by:
- Phone: (888) 729-1206
- Email: [email protected]
OR
Collect sample
- Collect a blood or buccal sample
- Label samples as directed
Send sample and completed TRF to GeneDx
- Send sample and completed TRF to GeneDx (prepaid shipping label will be in kit)
- TRF and sample do not have to be submitted together
- TRF can also be submitted electronically to [email protected]
- To avoid delays, ensure TRF is fully completed
Receive results
- Lab will email or fax results to ordering clinician within 4 weeks of receiving the sample and fully completed TRF
The Decode DEBTM program was created to provide access to genetic testing for patients who have been diagnosed with or suspected of having epidermolysis bullosa (EB) and have not had genetic testing. Decode DEBTM is open to all US residents, including residents of Puerto Rico. Testing is available to eligible patients free of charge. No patients, healthcare professionals, or payers, including government payers, are billed for this program. Krystal Biotech does not receive any data that can identify individual patients. Krystal Biotech covers the cost of laboratory testing only—excludes office visits, copays, sample collection, and any other related costs. Krystal reserves the right to amend, suspend, or terminate this program without notice.
Understanding DEB
DEB is a serious genetic disorder caused by mutations in the COL7A1 gene8,9
Recognizing DEB
DEB can be missed or misdiagnosed when looking at symptoms alone1,4,6,10
References: 1. Has C, Liu L, Bolling MC, et al. Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa. Br J Dermatol. 2020;182(3):574-592. doi:10.1111/bjd.18128 2. Dystrophic epidermolysis bullosa. Genetic and Rare Diseases Information Center. Accessed June 13, 2022. https://rarediseases.info.nih.gov/diseases/2150/dystrophic-epidermolysis 3. Epidermolysis bullosa simplex. Genetic and Rare Diseases Information Center. Accessed June 13, 2022. https://rarediseases.info.nih.gov/diseases/10752/epidermolysis-bullosa-simplex/ 4. Tabor A, Pergolizzi JV Jr, Marti G, Harmon J, Cohen B, Lequang JA. Raising awareness among healthcare providers about epidermolysis bullosa and advancing toward a cure. J Clin Aesthet Dermatol. 2017;10(5):36-48. 5. Feinstein JA, Jambal P, Peoples K, et al. Assessment of the timing of milestone clinical events in patients with epidermolysis bullosa from North America. JAMA Dermatol. 2019;155(2):196-203. doi:10.1001/jamadermatol.2018.4673 6. Bruckner AL, Losow M, Wisk J, et al. The challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers. Orphanet J Rare Dis. 2020;15(1):1. doi:10.1186/s13023-019-1279-y 7. Condorelli AG, Dellambra E, Logli E, Zambruno G, Castiglia D. Epidermolysis bullosa–associated squamous cell carcinoma: from pathogenesis to therapeutic perspectives. Int J Mol Sci. 2019;20(22):5707. doi:10.3390/ijms20225707 8. Fortuna G, Aria M, Cepeda-Valdes R, Trevino MGM, Salas-Alanís JC. Pain in patients with dystrophic epidermolysis bullosa: association with anxiety and depression. Psychiatry Investig. 2017;14(6):746-753. doi:10.4306/pi.2017.14.6.746 9. Eichstadt S, Tang JY, Solis DC, et al. From clinical phenotype to genotypic modelling: incidence and prevalence of recessive dystrophic epidermolysis bullosa (RDEB). Clin Cosmet Investig Dermatol. 2019;12:933-942. doi:10.2147/CCID.S232547 10. Kao C-H, Chen S-J, Hwang B, Yang A-H, Hsu C-Y, Huang C-H. Junctional epidermolysis bullosa. J Chin Med Assoc. 2006;69(10):503-506. doi:10.1016/S1726-4901(09)70318-1