The Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform Program (SDS-GPS Program)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 8,000
- 试验地点
- 1
- 主要终点
- Patient (or caregiver) reported symptoms over time
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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 EFL
- •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.
排除标准
- •● People who do not meet the above criteria.
结局指标
主要结局
Patient (or caregiver) reported symptoms over time
时间窗: At baseline and every 12 months, prospectively.
Patients report symptoms via surveys, grouped by organ system.
Genetics report uploaded by patient (or caregiver)
时间窗: Through study completion when the genetics report is available.
Clinical genetics reports are uploaded by the patient (or caregiver) and curated by study staff to confirm a genetic diagnosis, understand variants, and assess the use of appropriate genetic testing methodologies.
Quality of life measures via PROMIS surveys
时间窗: Through study completion, an average of 2-4 times per year.
PROMIS surveys in various domains, such as fatigue, pain, anxiety, and depression, are administered as surveys and scored with the standard PROMIS scoring methods. Specific PROMIS measures to include: v1.0 Anxiety 8a short form v1.0 Depression 8a short form v1.0 Pain Interference 6a short form v2.0 Cognitive Function 8a short form v1.0 Self-Efficacy for Managing Chronic Conditions: Manage Daily Activities 8a short form v1.0 - Self-Efficacy for Managing Symptoms 8a v2.0 Satisfaction Social Roles and Activities 8a short form v2.0 Ability to Part Social Roles and Activities 8a short form v2.0 Social Isolation 8a short form v1.0 Fatigue 13a short form (FACIT-Fatigue) v3.0 PP: Depressive Symptoms 6a short form v3.0 PP: Fatigue 10a short form v3.0 PP: Mobility 7a short form v3.0 PP: Pain Interference 8a short form v1.0 PP: Cognitive Function 7a short form
Patient reported burden of disease and treatment outcomes
时间窗: At baseline and every 12 months, prospectively.
Patients fill out surveys to report on disease burden (such as number and duration of hospitalizations), treatment burden (such as surveillance), and treatment outcomes (such as HSC transplant outcomes)
次要结局
未报告次要终点