Bluebird bio Commercial Patient Testing

Integration Site Analysis (ISA) is a key tool for assessing the safety of gene therapy vectors by characterizing the integration profile and for clonal tracking of genetically modified cells in vivo. Complementary and particularly designed for long-term follow-up studies, customized integration site-specific qPCR assays provide an orthogonal method to confirm eventual clonal events.

ProtaGene works with our biopharmaceutical clients and patient treatment and/or test centers to test patient samples for these diagnostic and safety studies. This service is currently only available to patients treated with approved bluebird bio therapies and not enrolled in the registry. The normal turnaround time for this service is 6-8 weeks. Please read below to learn more about our sample collection, shipping, and billing guidelines.

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Guidelines

Sample Requirements
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    Peripheral blood: 2mL (minimum 1mL) in EDTA tube

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    DNA: 5µg (15-100 ng/µl) in screw cap cryovial

Shipping Requirements
  • Shipper must be IATA-certified to transport dangerous goods

 

  • Supplies
  • Please complete and print the Requisition Form to ship with samples and send a copy electronically to ISA-US@protagene.com
  • Ziplock biohazard bag with absorbent pad
  • Cool packs or dry ice (consider adding more during warm weather)
    • Cool packs for shipping specimens collected <2 days
    • Dry ice for shipping specimens collected >2 days
    • Please refer to the sample requirement section of the Requisition Form for additional details on specimen storage conditions if sample cannot be shipped within 2 days of collection
  • Insulated mailer with proper markings
Airbill addressed to:

Specimen Receiving (ISA)
ProtaGene US, Inc
4 Burlington Woods Drive, 2nd Floor
Burlington, MA 01803
(857) 829-3200

Frequently Asked Questions

  1. 1. Who can be tested?

This service is currently only available to commercial patients treated with approved bluebird bio therapies and not enrolled in the registry.

 

  1. 2. How can I request this test on a patient who has received an approved bluebird bio therapy?

The test Requisition Form, sample requirements, shipping instructions, and other accompanying information is available on this page. The Requisition Form needs to be completed and signed by the requesting physician.

 

  1. 3. What sample(s) are acceptable for testing?

There are two acceptable sample types: 2mL peripheral blood in an EDTA tube or 5µg DNA (15-100ng/µL) in a screw cap cryovial. Any other container or sample will be rejected.

 

  1. 4. Are there any special instructions for sending samples?

Samples may be sent by overnight delivery via commercial courier. If using a private courier service, the courier must comply with IATA requirements for transporting dangerous goods.

Packages should be shipped to ProtaGene between Monday through Thursday only, for receipt no later than Friday. Packages delivered on weekends should be avoided.

If shipping within 2 days of collection, samples may be shipped on an ice pack or wet ice. Otherwise, samples should be shipped frozen (dry ice).

 

  1. 5. What is the anticipated turnaround time for ISA testing?

Standard sample processing and testing takes 6-8 weeks.

 

  1. 6. How will I receive the results?

Finalized reports will be sent directly to the requesting physician via secure email to the contact provided in the requisition form.

  1. 7. Will I be notified if there’s a delay?

The requesting physician will receive an email notification of any issues (i.e., repeat test, delays, etc.).

 

  1. 8. What should I expect in an ISA report?

ISA testing is reported as a summary report, including:

  • Sample specifications (as provided on requisition form)
  • ISA method summary
  • Integration site (IS) counts are a reflection of vector-copy number and presence/lack of clonal outgrowth. Higher counts (e.g., comprising of thousands of different IS locations) correlate with more successful treatment and reduced risk.
  • The report will include the ten most prominent IS locations with estimation of clonal size, nearby gene name, and IS location specification (chromosome number, sequence orientation (plus or minus), and locus of the IS based on human reference genome). Higher IS frequencies, especially IS locations which increase over time, indicate clonal dominance.
  • Oligoclonality is defined as an IS detected at ≥ 10% Relative Frequency (RelFreq) for 1 IS the first time at the most recent ISA, or ≥ 5% Relative Frequency (RelFreq) for ≥ 2 IS each the first time at the most recent ISA. While oligoclonality itself will not a priori result in a malignancy, IS relative frequency may suggest the emergence of clonal hematopoiesis, which may be associated with an increased risk of a malignancy.
  • A sample IS summary report can be found here.

 

  1. 9. Which states is ProtaGene accepting samples from?

ProtaGene is currently accepting samples from the following states: AL, AK, AZ, AR, CO, CT, DE, DC, FL, GA, HI, ID, IL, IN, IA, KS, KY, LA, ME, MA, MI, MN, MS, MO, MT, NE, NH, NJ, NM, NC, ND, OH, OK, OR, SC, SD, TN, TX, UT, VT, VA, WA, WV, WI, and, WY.

ProtaGene has received its Clinical Laboratory Improvements Amendments (CLIA) Certificate of Registry from the state of Massachusetts. Additional state CLIA licenses are being obtained to allow receipt of patient samples from all US states.

 

  1. 10. What if I have more questions?

Please complete the inquiry form below, and we will respond within 2 business days.

Questions? Contact Our Commercial Product Support Team

To contact us, please fill out the form or email us. Our team will be sure to follow up promptly.

Commercial Product Support – Contact ISA

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To contact us, please fill out the form or email us at info@protagene.com. Our team will follow up promptly.

Analytical Excellence Accelerating Tomorrow’s Therapeutics

To contact us, please fill out the form or email us at info@protagene.com. Our team will follow up promptly.