Clinical Research Directory

Enhancing the Clinical Management of CMF Through a National Pediatric and Adult Network Based on Biological and Genetic Data

A non-profit, translational, prospective and retrospective study. Patients will be enrolled according to the procedures described in the protocol, and samples will be processed and analyzed as specified in the protocol. Since constitutional bone marrow failure syndromes (CMF) are rare genetic disorders characterized by a variable and incompletely defined clinical phenotype, a partially unknown genetic etiology, and pathogenetic mechanisms that are only partly understood, we hypothesize that a number of patients currently diagnosed with idiopathic acquired aplastic anemia (AAA) or idiopathic single-lineage/multilineage bone marrow failure (BMF) may have been misdiagnosed and may actually have an underlying CMF. Therefore, our primary objective is to identify CMF underlying BMF and vice versa, by defining well-characterized patient cohorts based on clinical and family history, clinical manifestations, and immunological findings; identifying disease-specific parameters and biomarkers; and providing disease-specific guidelines to facilitate early diagnosis and, consequently, enable timely and appropriate treatment. In this context, the use of appropriate artificial intelligence (AI) tools is likely to improve the diagnostic accuracy of this approach.

Serial Blood Count Study

The objective of the Serial Blood Count Study is to determine the utility of home monitoring of white blood cell (WBC) and absolute neutrophil counts (ANC) to diagnose cyclic neutropenia and distinguish between cyclic and severe congenital neutropenia (SCN). A new home monitoring device called Athelas One was granted an FDA 510K Class 2 clearance for evaluation of white blood count (WBC) and absolute neutrophil count (ANC). The investigators believe this device provides a unique and extremely valuable opportunity to for diagnosis of these diseases.

Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform

The Shwachman-Diamond Syndrome Global Patient Survey and Collaboration Program (SDS-GPS) is an opportunity for patients and their families - from anywhere in the world - to share their experience living with SDS via a safe, secure, and convenient online platform, to * expand the understanding of SDS * improve the lives of people with SDS, and * accelerate the development of new therapies and cures for SDS. By joining, participants will receive early access to relevant information about new clinical trials and other research opportunities (such as clinical registries) based on their profile, accelerating research and increasing clinical trial impact and recruitment success. The platform, consent forms, and surveys are available in five languages: English, Spanish, French, German, and Italian. More languages to come.