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Timeline: ~20 Weeks
Cost: ~$89,900

The SPATA Foundation has formed a partnership with Unravel Biosciences, a bioscience company dedicated to developing new therapeutics for complex disorders.

Unravel has multiple drugs in clinical trials, and has already found 4 drug targets for other rare/complex diseases.

Our partnership with Unravel is the first research partnership dedicated to researching a treatment for SPATA5 and SPATA5L1!

We're very excited for this opportunity, and encourage you to learn more about this project below.

Drug Repurposing with Unravel Biosciences

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cecilia delisle  SPATA5

What is Drug Repurposing?

Drug Repurposing (also known as drug repositioning) is a process of identifying new therapeutic use(s) for old/existing/available drugs. Over the years, researchers have found drugs that were created to treat one thing work for something else. For example: Topiramate was originally create as an epilepsy treatment. It’s still used as an epilepsy treatment, but they also found it can be used to treat certain types of obesity. So, Topiramate was repurposed and is also now used for obesity treatment.

Drug Repurposing is now being applied to rare diseases. There are a handful of companies in the US doing drug repurposing research specifically for rare diseases.

Does it Work?

Yes! There are lots of Rare Disease foundations, just like The SPATA Foundation, utilizing drug repurposing. Check out Maggie's Pearl, who have utilized drug repurposing to identify a treatment for an ultra-rare condition called Congenital Disorder of Glycosylation Type 1A. They are currently in a Phase III Clinical Trial.

 

Unravel Biosciences harnessed patient RNA data to uncover a promising breakthrough for Rett Syndrome in just one year, discovering a new therapeutic mechanism that can be engaged using an existing prescription drug. The discovered novel therapy surpasses the only approved drug in mouse models and is poised for upcoming clinical trials. Unravel has repeated this approach with other neurodevelopmental and neurodegenerative disorders.

 

As an example of how robust the approach is, Unravel’s lead drug prediction for a neurodegenerative disorder, generated and validated in under one year, has been nominated for the supporting foundation’s very first clinical trial. They are partnered with multiple foundations to develop custom repurposing and target discovery programs based on patient RNAseq data and enabling clinical trials in rare and ultra-rare disorders. (source)

Will this work for ALL SPATA5 and SPATA5L1 patients?

Not every variant can be tested, but the hope is that the treatment(s) found will work for everyone, although there is no gurantee. There's also no guarantee that the found treatment(s) would work the same from person to person, considering each case & set of symptoms are different.

What is the Process?

We'll try to explain this in an easy-to-understand way!

Step 1: Collect Patient Samples

In order to get the best results, Unravel needs patient samples! They need a minimum of 4 SPATA5 and 4 SPATA5L1 Nasal Swabs to analyze. Families can purchase a swab kit for $1350. A kit will include swabs for the patient and an unaffected parent or sibling of the same sex.

Please understand, if you do not submit a sample, you will still benefit from this study. However, submitting a sample means your child's data will be studied, thus it being more likely whatever treatment is found would work for those who's samples were submitted.

Step 2: Analyze Patient RNA Samples & First Screen

Once all samples are received in the lab, Unravel will use the samples to predict patient-specific therapeutic mechanisms (drugs & compounds). They will take thousands of drugs already FDA-approved and on the market, plus individual compounds, and test them. The data from this analysis will result in data supporting one or more molecules for further testing.

Step 3: Create Animal Models & Test Top Candidates

Utilizing protocol from UMASS Boston, Unravel will create CRISPR-engineered tadpoles to represent SPATA5 and SPATA5L1 patients. They will then take the predicted list of therapeutics from Step 1, test them on the genetically modified tadpoles, and monitor how characteristics associated with the diseases change with treatment (seizures, hearing loss, motor function, dystonia/spasticity, etc).

Why tadpoles? Mice are the preferred animal model, but tadpoles are a close second. Tadpoles are genetically very similar to humans, bust cost much less than mice and take a lot less time to engineer. They will be able to see physical symptoms in tadpoles, much like what we see in our kids, to truly get a good understanding of how certain drugs/compounds work.

Depending on what the top drug candidates are and what they cost, there may be some additional costs associated with testing them on the tadpoles.

Step 4: A Treatment!

Depending on what drug(s)/compound(s) are found to be a potential treatment, there are a few ways that patients may be able to begin treatment. A doctor may be able to prescribe the drug, we may have to ask the FDA for compassionate use, or, if necessary, further testing may have to be done.

If no drug is found, but individual compounds are found, Unravel Biosciences can work on engineering a NEW drug, specifically for treatment.

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  • What is the Cost Breakdown?
    Sample Kits Each sample kit is $1,350. A sample kit includes swabs for one affected patient AND an unaffected parent or sibling of the same sex. To keep it fair, we've decided to have families fund the sample kits. If you would like to purchase a swab kit, you can do so through The SPATA Foundation. The Foundation will collect the money for the kit and purchase the kit through Unravel for the family who paid for it. Please send us an email at info@spatafoundation.org and we can send you the information you need to purchase a kit for $1,350. A minimum of 4 SPATA5 samples and 4 SPATA5L1 samples are required, but more samples are welcome. Analysis and Initial Drug Screen Against Patient Samples $14,000 Development of SPATA5 and SPATA5L1 Genetically Modified Tadpoles $65,000 Please note additional testing & costs may come about. This is just for the initial statement of work.
  • Will Identity of Patients be Protected?
    Absolutely! Patient identifiers, genetic sequence data, and Protected Health Information will be removed by us or our clinical research institutional partners as per IRB protocol guidelines prior to any data sharing or publication. (from Unravel)
  • What is the Approximate Timeline?
    From beginning to end we're looking at approximately 20 weeks!
  • How can I participate?
    The first way to participate is to purchase a sample kit. Each sample kit is $1,350. A sample kit includes swabs for one affected patient AND an unaffected parent or sibling of the same sex. A minimum of 4 SPATA5 samples and 4 SPATA5L1 samples are required, but more samples are welcome. To keep it fair, we've decided to have families fund the sample kits. If you would like to purchase a swab kit, you can do so through The SPATA Foundation. The Foundation will collect the money for the kit and purchase the kit through Unravel for the family who paid for it. Please send us an email at info@spatafoundation.org and we can send you the information you need to purchase a kit for $1,350. Please understand, if you do not submit a sample, you will still benefit from this study. However, submitting a sample means your child's data will be studied, thus it being more likely whatever treatment is found would work for those who's samples were submitted. Other ways to help would be to donate and/or share our donation page on social media!
  • What if I have more questions?
    Please feel free to email Mariah George directly at info@spatafoundation.org with any questions/concerns/comments.
  • Why RNA and not DNA?
    Although DNA sequencing of the genome has gotten far more attention, RNA tells a different story. DNA mutations are mostly unchanged over the life of a patient. RNA on the other hand tells a dynamic story of each patient’s specific condition, not just the genetic contributions of their entire genome but also the impact of their environment, sleep, diet, medications, activity, and even the microbiome. As a patient’s disorder progresses or is treated, RNA keeps informing on what is happening. Even for disorders with clear disruption of proteins, RNA still provides a view of the biological system, offering strategies for treatment. The historical lack of RNA data, unlike DNA data, is a major motivator for creating this database. (from Unravel)
  • How will Funding for Sample Kits be Handled?
    To keep it fair, we've decided to have families fund the sample kits. If you would like to purchase a swab kit, you can do so through The SPATA Foundation. Please send us an email at info@spatafoundation.org and we can send you the information you need to purchase a kit for $1,350.
Freddy SPATA5L1

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The SPATA Foundation is on a mission to find a treatment that will enhance the lives of those affected by SPATA5 and SPATA5L1. 

The science exists, but it takes time and money. 

Your donation gets us one step closer.

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