Rare Disease Biospecimens

Advance breakthrough research in rare and hard to access conditions with high-quality, deeply annotated biospecimens collected through Sanguine’s nationwide direct-to-donor network

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																							Specimen ID	Sample Type	Cells / Volume	Primary Disease	Diagnosis	Allergies	Allergy List	BMI	HIV/HBV/HCV Tested	Syphilis Tested	Has Infectious Disease	Tobacco Use	Years of Smoking	Packs per Day	Alcohol Use	Recreational Drug Use	Caffeine Use	Sample Status	Availability
Sickle Cell Disease/Anemia Plasma	69901	129787	Male	31-45	African American	Frozen	1 mL	21	—	Hydroxyurea/1500mg/QD Gabapentin/300mg/6 a day Tizanidine/4mg/QD Acetaminophen/300mg/PRN Ibuprofen/400mg/PRN Vitamin D2/1.25mg/QW Folic Acid/1mg/QD Colace/100mg/QD Senna/8.6mg/QD Bupropion/300mg/QD Albuterol/MDI/PRN Symbicort/MDI/BID	Sickle Cell Disease/Anemia	United States	2025	—	—	—	—	—	—	—	—	—	162977; 162978; 162979; 162980; 162981; 162982; 162983; 162984; 162985; 162986; 162987; 162988; 162989; 162990; 162991; 162992; 162993; 162994; 163020; 163021; 163022	Plasma	1.0 ML	Sickle Cell Disease/Anemia	Sickle Cell Anemia	No		26.62	No	No	No	No			No	YES	No	Stored	In Stock	$495
Pompe Disease Plasma	80262	152185	Female	31-45	Caucasian	Frozen	1 mL	14	—	Nexviazyme 20mg/kg IV Q 2weeks, Pompe, Cymbalta 60 mg QD, depression Lamictal 25 mg QD, depression	Pompe Disease	United States	2026	—	—	—	—	—	—	—	—	—	219931; 219930; 219929; 219928; 219927; 219926; 219925; 219924; 219923; 219922; 219921; 219920; 219919; 219918	Plasma	1.0 ML	Pompe Disease	Pompe Disease	No		19.22	No	No	No	No			Yes	NO	Yes	Stored	In Stock	$667
Pompe Disease PBMC	80186	151725	Female	46-60	Caucasian	Cryopreserved	1 mL	4	10M	Pombiliti + Opfolda 20mg/kg + 260mg, Q 2 weeks	Pompe Disease	United States	2026	—	—	—	—	—	—	—	—	—	219655; 219654; 219653; 219652	PBMC	10M cells	Pompe Disease	Pompe Disease	No		30.78	No	No	No	No			No	NO	Yes	Stored	In Stock	$891
Pompe Disease Serum	80186	151725	Female	46-60	Caucasian	Frozen	1 mL	8	—	Pombiliti + Opfolda 20mg/kg + 260mg, Q 2 weeks	Pompe Disease	United States	2026	—	—	—	—	—	—	—	—	—	219410; 219416; 219413; 219417; 219414; 219412; 219415; 219411	Serum	1.0 ML	Pompe Disease	Pompe Disease	No		30.78	No	No	No	No			No	NO	Yes	Stored	In Stock	$667
Pompe Disease Plasma	80186	151725	Female	46-60	Caucasian	Frozen	1 mL	14	—	Pombiliti + Opfolda 20mg/kg + 260mg, Q 2 weeks	Pompe Disease	United States	2026	—	—	—	—	—	—	—	—	—	219368; 219362; 219365; 219366; 219369; 219360; 219367; 219359; 219363; 219364; 219361; 219358; 219357; 219356	Plasma	1.0 ML	Pompe Disease	Pompe Disease	No		30.78	No	No	No	No			No	NO	Yes	Stored	In Stock	$667
Pompe Disease PBMC	80185	151660	Female	46-60	Caucasian	Cryopreserved	1 mL	6	10M	Ventolin HFA 90 mcg per puff, 2 puffs 4 to 6 hours PRN, asthma, currently taking-; Buspar 10 mg TID, anxiety, currently taking-; Venlafaxine 50 mg TID, depression, currently taking-; Xanax 0.5mg Q8 PRN, anxiety, currently taking-; Norco 7.5mg/325mg Q6 PRN, pain, currently taking-; Ambien 10mg Q night, insomnia, currently taking-; Cyclobenzaprine 10 mg Q8 hours PRN, pain, currently taking-; Benadryl 50mg PRN, itching from narcotics, currently taking-; Nexviazyme 20mg/kg IV Q 2 weeks, Pompe, currently taking-(pre meds for infusions Singulair, Zyrtec, Solu-Medrol)	Pompe Disease	United States	2026	—	—	—	—	—	—	—	—	—	218923; 218924; 218922; 218921; 218920; 218919	PBMC	10M cells	Pompe Disease	Pompe Disease	Yes	Seasonal	24.59	No	No	No	No	10	1	Yes	NO	Yes	Stored	In Stock	$891
Pompe Disease Serum	80185	151660	Female	46-60	Caucasian	Frozen	1 mL	8	—	Ventolin HFA 90 mcg per puff, 2 puffs 4 to 6 hours PRN, asthma, currently taking-; Buspar 10 mg TID, anxiety, currently taking-; Venlafaxine 50 mg TID, depression, currently taking-; Xanax 0.5mg Q8 PRN, anxiety, currently taking-; Norco 7.5mg/325mg Q6 PRN, pain, currently taking-; Ambien 10mg Q night, insomnia, currently taking-; Cyclobenzaprine 10 mg Q8 hours PRN, pain, currently taking-; Benadryl 50mg PRN, itching from narcotics, currently taking-; Nexviazyme 20mg/kg IV Q 2 weeks, Pompe, currently taking-(pre meds for infusions Singulair, Zyrtec, Solu-Medrol)	Pompe Disease	United States	2026	—	—	—	—	—	—	—	—	—	218815; 218814; 218813; 218812; 218811; 218810; 218809; 218808	Serum	1.0 ML	Pompe Disease	Pompe Disease	Yes	Seasonal	24.59	No	No	No	No	10	1	Yes	NO	Yes	Stored	In Stock	$667
Pompe Disease Plasma	80185	151660	Female	46-60	Caucasian	Frozen	1 mL	13	—	Ventolin HFA 90 mcg per puff, 2 puffs 4 to 6 hours PRN, asthma, currently taking-; Buspar 10 mg TID, anxiety, currently taking-; Venlafaxine 50 mg TID, depression, currently taking-; Xanax 0.5mg Q8 PRN, anxiety, currently taking-; Norco 7.5mg/325mg Q6 PRN, pain, currently taking-; Ambien 10mg Q night, insomnia, currently taking-; Cyclobenzaprine 10 mg Q8 hours PRN, pain, currently taking-; Benadryl 50mg PRN, itching from narcotics, currently taking-; Nexviazyme 20mg/kg IV Q 2 weeks, Pompe, currently taking-(pre meds for infusions Singulair, Zyrtec, Solu-Medrol)	Pompe Disease	United States	2026	—	—	—	—	—	—	—	—	—	218698; 218699; 218694; 218692; 218697; 218695; 218696; 218693; 218691; 218688; 218690; 218689; 218687	Plasma	1.0 ML	Pompe Disease	Pompe Disease	Yes	Seasonal	24.59	No	No	No	No	10	1	Yes	NO	Yes	Stored	In Stock	$667
Pompe Disease PBMC	80090	145398	Female	46-60	Caucasian	Cryopreserved	1 mL	6	10M	Synthroid 112mcg QD currently taking Sertraline 25mg QD ( used to be on 50mg decreased ), currently taking, Nexviazyme infusions 20mg/kg, ERT replacement, Q 2 weeks, next dose	Pompe Disease	United States	2026	—	—	—	—	—	—	—	—	—	217472; 217471; 217469; 217468; 217470; 217467	PBMC	10M cells	Pompe Disease	Pompe Disease	Yes	Gluten, Dairy	19.97	No	No	No	No			No	NO	Yes	Stored	In Stock	$891
Pompe Disease Plasma	80090	145398	Female	46-60	Caucasian	Frozen	1 mL	12	—	Synthroid 112mcg QD currently taking Sertraline 25mg QD ( used to be on 50mg decreased ), currently taking, Nexviazyme infusions 20mg/kg, ERT replacement, Q 2 weeks, next dose	Pompe Disease	United States	2026	—	—	—	—	—	—	—	—	—	217279; 217278; 217277; 217276; 217275; 217273; 217272; 217274; 217271; 217270; 217269; 217268	Plasma	1.0 ML	Pompe Disease	Pompe Disease	Yes	Gluten, Dairy	19.97	No	No	No	No			No	NO	Yes	Stored	In Stock	$667
Pompe Disease Serum	80090	145398	Female	46-60	Caucasian	Frozen	1 mL	7	—	Synthroid 112mcg QD currently taking Sertraline 25mg QD ( used to be on 50mg decreased ), currently taking, Nexviazyme infusions 20mg/kg, ERT replacement, Q 2 weeks, next dose	Pompe Disease	United States	2026	—	—	—	—	—	—	—	—	—	217302; 217301; 217297; 217300; 217299; 217298; 217296	Serum	1.0 ML	Pompe Disease	Pompe Disease	Yes	Gluten, Dairy	19.97	No	No	No	No			No	NO	Yes	Stored	In Stock	$667
Pompe Disease PBMC	80033	150928	Male	18-30	Caucasian	Cryopreserved	1 mL	2	10M	Adderall 25 mg QD, ADHD, currently taking Adderall 10mg PRN, ADHD, currently taking ( only takes PRN 1-2x month) Nexviazyme infusion 20mg/kg, next dose will be on, infusions every 2 weeks	Pompe Disease	United States	2026	—	—	—	—	—	—	—	—	—	217095; 217094	PBMC	10M cells	Pompe Disease	Pompe Disease	No		33.74	No	No	No	No			No	YES	Yes	Stored	In Stock	$891
Pompe Disease Serum	80033	150928	Male	18-30	Caucasian	Frozen	1 mL	8	—	Adderall 25 mg QD, ADHD, currently taking Adderall 10mg PRN, ADHD, currently taking ( only takes PRN 1-2x month) Nexviazyme infusion 20mg/kg, next dose will be on, infusions every 2 weeks	Pompe Disease	United States	2026	—	—	—	—	—	—	—	—	—	217045; 217046; 217043; 217047; 217044; 217042; 217041; 217040	Serum	1.0 ML	Pompe Disease	Pompe Disease	No		33.74	No	No	No	No			No	YES	Yes	Stored	In Stock	$667
Pompe Disease Serum	80030	151069	Male	61+	Caucasian	Frozen	1 mL	8	—	Lisinopril/Hydrochlorothiazide, 20 mg / 12.5 mg, currently taking Nexviazyme currently taking, 40mg/kg IV Q 2weeks, stable dose	Pompe Disease	United States	2026	—	—	—	—	—	—	—	—	—	217058; 217051; 217053; 217057; 217055; 217054; 217056; 217052	Serum	1.0 ML	Pompe Disease	Pompe Disease	No		24.96	No	No	No	No			Yes	YES	Yes	Stored	In Stock	$667
Pompe Disease Plasma	80030	151069	Male	61+	Caucasian	Frozen	1 mL	12	—	Lisinopril/Hydrochlorothiazide, 20 mg / 12.5 mg, currently taking Nexviazyme currently taking, 40mg/kg IV Q 2weeks, stable dose	Pompe Disease	United States	2026	—	—	—	—	—	—	—	—	—	216840; 216841; 216834; 216839; 216833; 216838; 216837; 216835; 216836; 216832; 216831; 216830	Plasma	1.0 ML	Pompe Disease	Pompe Disease	No		24.96	No	No	No	No			Yes	YES	Yes	Stored	In Stock	$667
Pompe Disease Plasma	80033	150928	Male	18-30	Caucasian	Frozen	1 mL	12	—	Adderall 25 mg QD, ADHD, currently taking Adderall 10mg PRN, ADHD, currently taking ( only takes PRN 1-2x month) Nexviazyme infusion 20mg/kg, next dose will be on, infusions every 2 weeks	Pompe Disease	United States	2026	—	—	—	—	—	—	—	—	—	216879; 216878; 216880; 216877; 216876; 216875; 216872; 216874; 216873; 216871; 216870; 216869	Plasma	1.0 ML	Pompe Disease	Pompe Disease	No		33.74	No	No	No	No			No	YES	Yes	Stored	In Stock	$667
Sickle Cell Disease/Anemia PBMC	75833	155457	Female	18-30	African American	Cryopreserved	1 mL	6	10M	Adakveo IV Q other Month Hydroxyurea 1500 mg QD Folic Acid 1 mg QD Oxycodone 30 mg Q3-4 hr PRN Oxycotin 15 mg Q12 PRN Albuterol inh PRN	Sickle Cell Disease/Anemia	United States	2026	—	—	—	—	—	—	—	—	—	200003; 200002; 200001; 200000; 199999; 199998	PBMC	10M cells	Sickle Cell Disease/Anemia	Sickle Cell Anemia	No		28.29	No	No	No	No			Yes	NO	Yes	Stored	In Stock	$765
Sickle Cell Disease/Anemia PBMC	74014	24684	Male	31-45	African American	Cryopreserved	1 mL	2	10M	Folic Acid/2mg/QD - Ibuprofen/800mg/Every 8 hours - Promethazine/25mg/PRN -; Morphine Sulfate IR/30mg/every 4 hours - cetirizine/10mg/PRN - OxyContin/60mg/Every 8 hours Nexium/PRN OxyContin/15mg/Every 8 hours Lisinopril 25 mg QD	Sickle Cell Disease/Anemia	United States	2026	—	—	—	—	—	—	—	—	—	191594; 191593	PBMC	10M cells	Sickle Cell Disease/Anemia	Sickle Cell Anemia	Yes	Ketamine; Vicodin	23.69	No	No	No	No			No	NO	No	Stored	In Stock	$765
Pompe Disease PBMC	73323	145344	Male	31-45	Caucasian	Cryopreserved	1 mL	4	10M	Nexviazyme 20mg/kg IV q 2 weeks, currently taking	Vitiligo, Pompe Disease	United States	2026	—	—	—	—	—	—	—	—	—	186063; 186064; 186065; 186066	PBMC	10M cells	Pompe Disease	Pompe Disease;Vitiligo	No		25.03	No	No	No	No			No	NO	No	Stored	In Stock	$891
Pompe Disease Plasma	73323	145344	Male	31-45	Caucasian	Frozen	1 mL	11	—	Nexviazyme 20mg/kg IV q 2 weeks, currently taking	Vitiligo, Pompe Disease	United States	2026	—	—	—	—	—	—	—	—	—	185979; 185980; 185981; 185982; 185983; 185984; 185985; 185986; 185987; 185988; 185989	Plasma	1.0 ML	Pompe Disease	Pompe Disease;Vitiligo	No		25.03	No	No	No	No			No	NO	No	Stored	In Stock	$667
Pompe Disease Serum	73323	145344	Male	31-45	Caucasian	Frozen	1 mL	7	—	Nexviazyme 20mg/kg IV q 2 weeks, currently taking	Vitiligo, Pompe Disease	United States	2026	—	—	—	—	—	—	—	—	—	185971; 185972; 185973; 185974; 185975; 185976; 185977	Serum	1.0 ML	Pompe Disease	Pompe Disease;Vitiligo	No		25.03	No	No	No	No			No	NO	No	Stored	In Stock	$667
Sickle Cell Disease/Anemia PBMC	73122	124564	Female	46-60	African American	Cryopreserved	1 mL	8	10M	folic acid, 1MG, QD hydroxyurea, 500mg, BID lisinopril, 2.5mg, QD vitamin D2, 1.25mg, QD Prilosec, 20mg, QD oxycodone, PRN	Sickle Cell Disease/Anemia	United States	2026	—	—	—	—	—	—	—	—	—	186559; 186558; 186557; 186556; 186555; 186554; 186553; 186552	PBMC	10M cells	Sickle Cell Disease/Anemia	Sickle Cell Anemia	Yes	pollen, penicillin, myocin, morphine,	18.94	No	No	No	Used to Smoke	4	0.3	No	NO	No	Stored	In Stock	$765
Sickle Cell Disease/Anemia PBMC	73417	126862	Female	18-30	African American	Cryopreserved	1 mL	2	10M	hydroxyurea 2000mg, QD- Vitamin D/QD Vitamin C/QD Morphine 15mg PRN pain Folic Acid 1 mg QD	Sickle Cell Disease/Anemia	United States	2026	—	—	—	—	—	—	—	—	—	185596; 185597	PBMC	10M cells	Sickle Cell Disease/Anemia	Sickle Cell Anemia	Yes	Chloroquine	31.58	No	No	No	No			No	NO	Yes	Stored	In Stock	$765
Sickle Cell Disease/Anemia PBMC	71529	123625	Female	31-45	African American	Cryopreserved	1.5 mL	1	30M	Folic Acid 1mg QD Entresto 51-49 mg BID Hydroxyurea 500mg/1000mg alternating daily Lopressor 25 mg BID Daily vitamin spironolactone 12.5mg QD Prilosec 40mg QD Farxiga 10 mg QD	Sickle Cell Disease/Anemia	United States	2025	—	—	—	—	—	—	—	—	—	176606	PBMC	30M cells	Sickle Cell Disease/Anemia	Sickle Cell Anemia	No		25.79	No	No	No	No			Yes	NO	Yes	Stored	In Stock	$765
Sickle Cell Disease/Anemia PBMC	69891	100622	Female	31-45	African American	Cryopreserved	1 mL	8	10M	Hydroxyurea 1500mg QD Folic Acid/1mg/QD Hydromorphone/8mg/PRN Oxycontin/30mg/PRN Acetaminophen/325mg/PRN Lidocaine 4% adhesive/PRN tizanidine/4mg/QD Aspirin/81mg/QD Cholecalciferol/1250mcg/QW lisinopril/5mg/QD	Sickle Cell Disease/Anemia	United States	2025	—	—	—	—	—	—	—	—	—	162786; 162787; 162775; 162779; 162780; 162781; 162782; 162783	PBMC	10M cells	Sickle Cell Disease/Anemia	Sickle Cell Anemia	No	Levaquin, Azithromycin	25.4	No	No	No	No			No	NO	No	Stored	In Stock	$765

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Unlock Access to Rare Donor Populations

Rare disease research often moves slowly not because of scientific limitations, but because donor access is limited and fragmented. Sanguine bridges this gap by connecting researchers directly with individuals living with rare and harder to access conditions. Our direct-to-donor model removes geographic and logistical barriers, enabling rapid, compliant, and donor-centric sample collection from some of the most difficult-to-reach populations.

Whether your work focuses on genetic disorders, immune dysregulation, metabolic diseases, or understudied inflammatory conditions, we provide reliable access to donor biospecimens and rich clinical data that help accelerate translational discovery

Why Partner with Sanguine for Rare Disease Biospecimen Solutions

A direct-to-donor model built for rare populations

Our nationwide donor community and in-home collection capabilities allow us to engage individuals anywhere in the U.S., including those with mobility limitations or low community prevalence.

Custom cohort recruitment for ultra-specific criteria

We recruit and screen donors to meet your exact inclusion/exclusion requirements, from genotypeconfirmed cohorts to treatmentnaïve or therapy-experienced donors.

Longitudinal and hard-to-collect samples

Track disease activity, therapeutic response, or biomarker dynamics over time through serial collections, even in very small populations.

Matched collections

Collect multiple biospecimen types from the same donor such as blood, PBMCs, plasma, serum, and urine, supporting integrative analyses.

Donor reported insights

For many rare conditions, donor-reported outcomes, flare patterns, and quality-of-life metrics are essential data streams. We integrate this information to complement your biospecimens with meaningful real-world context.

Deep clinical and molecular annotation

Receive comprehensive datasets that may include diagnosis details, treatment history, symptom onset, family history, genetic confirmation, imaging data, and more transforming biospecimens into robust translational tools.

Ethical, compliant, and secure

All collections follow IRB-approved protocols, HIPAA-compliant de-identification standards, and stringent data-privacy frameworks (ISO 9001, ISO 27001, ISO 27701).

Neuro Disease Specimen Portfolio

Available biospecimen types

Whole blood, plasma, serum

PBMCs and leukopaks for immune and cellular research

Urine, saliva, and other non-blood biospecimens

Longitudinal and recall-on-demand collections

Comprehensive data annotation may include:

Demographics, diagnosis, and genetic confirmation (if available)
Disease onset, progression history, symptom patterns
Medication and treatment exposure
Family history and comorbid conditions
Donor-reported outcomes and disease activity scores
Biomarker, genomic, or metabolic data (when available)

Ethical Sourcing and Regulatory Compliance

IRB-approved consent and study materials
HIPAA-compliant de-identification and secure data handling
ISO-certified quality, information security, and privacy systems
Transparent communication and ongoing engagement with donor communities

Empowering Rare Disease Research Across the R&D Spectrum

Mechanistic research

Study disease biology, genetic changes, inflammatory pathways, or metabolic derangements unique to rare conditions.

Biomarker discovery & validation

Use matched and longitudinal specimens to discover early predictors or progression markers.

Diagnostics development

Develop and validate diagnostic assays, including genetic, protein, and metabolic tests for early detection or subtype identification.

Therapeutic development

Support target validation, drug screening, preclinical work, and translational studies with well- characterized donor samples.

Cell & gene therapy research

Access high-quality PBMCs, leukopaks, or genetically defined donor cohorts to advance gene editing, cell therapy, and precision approaches

Clinical validation & post-market research

Leverage retrospective or prospective cohorts to support regulatory submissions, clinical validation, or real-world evidence studies

Ready to Advance Rare Disease Research?

Whether you’re building a targeted cohort for a specific mutation, seeking access to hard-to-find donor populations, or exploring biomarker development in rare condition, Sanguine provides the donor access and data depth your research requires.

Connect with our team to discuss your biospecimen needs or explore what’s available in our rare disease portfolio.

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