Browse Studies — Arctuva

Etiologic Investigation of Cancer Susceptibility in Inherited Bone Marrow Failure Syndromes: A Natural History Study

Background: A prospective cohort of Inherited Bone Marrow Failure Syndrome (IBMFS) will provide new information regarding cancer rates and types in these diso…

Diamond Blackfan AnemiaDyskeratosis CongenitaFanconi Anemia+2 more

Estimated

~$10 – $675

National Cancer Institute (NCI)NCT00027274

Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders …

16P11.2 Deletion Syndrome16p11.2 Duplications1Q21.1 Deletion+184 more

The Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform Program (SDS-GPS Program)

The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in t…

Shwachman-Diamond SyndromeSDSIBMF+24 more

Estimated

~$10 – $1,050

Shwachman-Diamond Syndrome Alliance IncNCT06999954

Shwachman Diamond Syndrome Registry and Study (SDS Registry)

Shwachman-Diamond syndrome (SDS) is a genetic condition characterized by bone marrow failure, medical co-morbidities, and leukemia predisposition. SDS-Like pat…

Shwachman-Diamond SyndromeShwachman-Diamond Syndrome-Like

Estimated

~$10 – $750

Boston Children's HospitalNCT06056908