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Resources

SPG4 Biobank

Cure SPG4 Foundation is excited to partner with The Coriell Institute for Medical Research to establish a biobank for SPG4 Hereditary Spastic Paraplegia.  The NIGMS Repository at Coriell, a world leader in biobanking, collects and stores cells from patients with SPG4 and makes them available to the research community across the globe.  Your cell donation enables research for a variety of purposes including finding new genes, studying how cells function, and discovering ways to treat and possibly cure genetic diseases.

About the Biobank

The NIGMS Human Genetic Cell Repository is a collection of well-characterized, high quality human cells for use in biomedical research.  Human cells are taken from blood or tissue samples provided by the SPG4 donor and converted into cell lines that can be used by many different researchers for several years.

SPG4 Researcher

Are you a stakeholder interested in using patient cell lines to further your SPG4 Hereditary Spastic Paraplegia Research?

Join the Program

Thank you for doing your part to push forward research for SPG4.  Both blood and skin samples are needed by SPG4 research teams.  NIGMS is currently accepting samples from SPG4 children and adults, as well as their unaffected parents and siblings.  All samples are completely de-identified.  Please email NIGMS@Coriell.org or click below to get started!

Step by Step Process:

  1. Begin by emailing NIGMS@Coriell.org to get started.  Or visit:  https://www.coriell.org/1/NIGMS/Affected-Families-Donate-Here/Donor-Portal-Home

  2. You will receive an email response from Coriell with information and next steps.

  3. Call your primary care provider, dermatologist, or neurologist to discuss who can take the skin biopsy and blood sample.

  4. Make your appointment to have your sample taken on a Monday through Thursday, and not near a holiday.

  5. Once your appointment is scheduled, Coriell will mail you a sample kit to take to your appointment.

  6. Once your blood sample and skin biopsy are taken, put them in the box with completed paperwork and ship to Coriell the same day.  Coriell covers the cost of shipping and can reimburse you up to $40 if you need to pay to have your blood drawn at a draw station, such as Quest or LabCorp.

  7. Notify Coriell that your kit has been shipped and they will send confirmation when your kit has been received.

  8. You are finished!  Thank you for doing your part to make a difference!

Natural History Studies

One of the most critical components of advancing a treatment into human clinical trials is having a natural history study of the disease.  Natural history studies enable researchers to have a better understanding of the disease and how it progresses over time.

 

If you have a diagnosis of SPG4 Hereditary Spastic Paraplegia, we strongly encourage you to participate in a natural history study.  Scientists are depending on you to provide them with the crucial data they need to move their findings into clinical trials. 

Early Onset Hereditary Spastic Paraplegia (HSP)
Natural History Study
 

Boston Children's Hospital

  • Currently seeking participants:

    1.  Diagnosis of SPG4 Hereditary Spastic Paraplegia​

    2.  Ages 30 and below

    3. ​ Symptom onset before age of 18

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  • Interested participants should contact Amy Tam directly at Amy.Tam@childrens.harvard.edu​

  • Participation is completely free and will be conducted over Zoom with Dr. Darius Ebrahimi-Fakhari.  Patients all over the world are invited to participate.

Hereditary Spastic Paraplegia
Childhood Onset Survey

The Hereditary Spastic Paraplegia Childhood Onset Survey was initiated and now currently managed by two mothers, Bridget Lassig and Ece Filiz, each with children diagnosed with Hereditary Spastic Paraplegia (HSP).  The survey is open to any individual diagnosed with HSP (any variant) who experienced symptoms before turning 18.  The purpose of the survey is to broaden the number of identified early onset HSP cases with the aim of supporting researchers, connecting the HSP community, discovering trends and shared variants, and informing diagnosis trends for reduction of misdiagnosis.

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The Hereditary Spastic Paraplegia Childhood Onset HSP Survey 2022 Public Report, is available here:

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