Rare Diseases
Rare Diseases
Rare diseases can be some of the most challenging biospecimens to collect. The FDA classifies these conditions as affecting fewer than 200,000 people in the United States. Sanguine’s direct-to-donor model and in-home biospecimen collection significantly help to reach donors. Additionally, our partnerships with non-profit organizations and patient advocacy groups aid in connecting with these communities.
Recent developments in our Rare Disease Community
- Amyloidosis - multiple projects completed and recent partnership with Amyloidosis Support Group
- Autoimmune hepatitis (AIH) - over 150 members in our community and growing with our partnership with AIHA
- Pompe disease -actively partnering with Pompe Warriors Foundation
- Sarcoidosis - over 250 members in our community and growing
More than the sample with biospecimens from Sanguine
Our direct connection to our donors allows us to provide more than sample collection. All disease-state biospecimens include electronic medical records (EMR). In addition we can collect patient-reported outcomes (PRO), surveys, and questionnaires to give insight into the donor experience.
- Verified diagnosed condition
- Donor demographics
- Medications including date and dosage
- Clinical/Lab tests
- Healthcare encounters
- Family and social history
Our Rare Disease Community
We continue to improve accessibility to rare disease biospecimens through our partnerships with non-profit organizations and patient advocacy groups. Below is the current list of rare disorders* in our community.
- Acromegaly
- AIP (Acute Intermittent Porphyria)
- Amyloidosis
- Amyotrophic lateral sclerosis (ALS)
- Antiphospholipid Syndrome (APS)
- APECED (Autoimmune
Polyendocrinopathy-Candidiasis-
Ectodermal Dystrophy) - Autoimmune Hepatitis (AIH)
- Behcet's disease
- Chronic inflammatory demyelinating polyneuropathy (CIDP)
- Duchenne Muscular Dystrophy (DMD)
- Dravet Syndrome
- Essential Thrombocythemia
- Fabry Disease
- Giant Cell Arteritis (GCA)
- Huntington's Disease
- Mucopolysaccaridosis (MPS) I, MPS II-
Hunter syndrome, MPS III- Sanfilippo syndrome - Pemphigus
- Pompe Disease
- Sarcoidosis
- Thyroid Eye Disease
* rare disorders as categorized by the National Organization of Rare Disorders (NORD®)
Success Story
Shedding light on a rare metabolic disorder
Background and Challenge
Fabry disease is a rare inherited metabolic disorder. A team at Takeda Pharmaceuticals sought to study miRNA profiles to identify potential early diagnostic biomarkers. As it is a rare disease, recruitment of donors can be challenging particularly if collection is limited geographically. Sanguine’s in-home biospecimen collection allowed for recruitment across the United States.
Solution
Sanguine partnered with Fabry Support & Information Group (FSIG) to recruit individuals to participate in the study. We were successful in collecting whole blood from 20 donors with Fabry disease across the United States. Further, these donors remained engaged and have participated in multiple other studies to further our understanding and treatment of Fabry disease. The team at Takeda uncovered a link to miRNAs with the angiogenesis pathway which was published in PLOS.
Let’s discuss your rare disease of interest, what sample types we can collect, and pricing.
Compliance & Quality Assured
For quality and compliance related information, please visit Sanguine quality and compliance page.
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