shwachman-diamond syndrome global patient survey and partnering platform

Conditions: Shwachman-Diamond Syndrome; SDS; IBMF; Congenital Neutropenia; Heme Malignancy; Shwachman Syndrome; Inherited Bone Marrow Failure; Exocrine Pancreatic Insufficiency; WHIM; ELANE; SBDS Gene Mutation; EFL1 Gene Mutation; DNAJC21 Gene Mutation; SRP54 Gene Mutation; Inherited Cancer Syndrome; Inherited Cancer-Predisposing Syndrome; Neutropenia, Severe Chronic; Neutropenia Other; Neutropenia Chronic Benign; Ribosome Alteration; Ribosomopathy; Immune Deficiency; Inherited BMF Syndrome; Inherited Immunodeficiency Diseases; Cognitive Delay, Mild; Myelodysplastic Syndromes; Pancytopenia

Summary: 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.

what is sds-gps? 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, with the goal of * expanding the understanding of sds and related conditions * improving the lives of people with sds and related conditions, and * accelerating the development of new therapies and cures for sds. sds-gps was created for the patients, by the patients, with thoughtful input from patients, families, advocates, caregivers, researchers, clinicians, and regulators. participants will be part of a global community that cares, turns hope into action, and drives research. participants' experience - whether it falls in the mild or severe end of the spectrum - matters. their voice counts. how can patients' stories help drive therapies and cures? participants' stories help paint a more complete picture of what sds is and how it impacts the people living with it. their participation helps build a strong, engaged community, which is critical to drive progress. without patients and their families, research cannot advance. the investigators (the sds-gps team at the sds alliance) use participants' de-identified aggregate survey responses and other data they share to develop a deeper understanding of the unmet needs of the community. the investigators use the insights to * prioritize research, educational resources, and community programming * promote data and knowledge sharing via collaborations, publications, conference presentations, and other communication channels * provide participants with information about relevant research opportunities (such as the sds registry and other natural history studies), clinical trials, educational resources, and community support connections. what aspects of their story can participants share through sds-gps? surveys on the sds-gps program platform are designed to be quick and easy, without the need to have to look up any details from medical records. they can save their progress and come back anytime. survey topics include: * socio-demographics * medical history and diagnostics * treatment and disease progression * management of and access to care * quality of life how does sds-gps work? * sign up for a free sds-gps account and enter a little bit about the participant. enrolling and participating takes little time, and they can come back later to update any information. * answer surveys from the comfort of their home at any time that works for them. * privacy and security are protected to the highest standard. * move research forward without any clinic visits or virtual appointments. with participants' consent, the investigators publish and share de-identified data (your survey responses) with approved researchers to support research to benefit the sds community. the information participants provide through easy surveys is structured and coded behind the scenes, to be usable for high-quality, impactful research. * keep track of the participants' medical appointments, medications, and symptoms via their sds-gps account, and have all the information at their fingertips whenever and wherever they need it. * share any information participants like with their care team. participants retain full control over access. the platform, consent forms, and surveys are available in five languages: english, spanish, french, german, and italian. more languages to come.

Eligibility criteria:
inclusion criteria: the program invites patients of all ages who have a confirmed diagnosis of the below, using established diagnostic guidelines, plus their parents/caregivers. * patients with a confirmed shwachman-diamond syndrome (sds) diagnosis, including a genetic or clinical diagnosis. the initial focus will be on patients with a genetic diagnosis of sds based on biallelic mutations in sbds or efl1. * patients with a confirmed diagnosis of an sds-like syndrome (e.g. due to mutations in dnajc21, srp54, or other genes that may be associated with an sds-like syndrome in the future). * patients with other heritable hematological malignancy disorders (such as runx1-fpd, fanconi anemia) and/or congenital neutropenias (such as elane neutropenia) are also eligible for inclusion. * caregivers, parents, and close relatives of all patients above, including of patients alive or deceased. exclusion criteria: ● people who do not meet the above criteria.

Keywords: shwachman-diamond syndrome shwachman diamond syndrome shwachman syndrome sds ibmf inherited bone marrow failure congenital neutropenia immune deficiency sds-like syndrome genetic cancer predisposition whim elane sbds efl1 srp54 dnajc21 severe chronic neutropenia exocrine pancreatic insufficiency ribosomopathy