Recruiting

Observational Study

Sponsor:

Shwachman-Diamond Syndrome Alliance Inc

Code:

NCT06999954

Conditions

Shwachman-Diamond Syndrome

SDS

IBMF

Congenital Neutropenia

Heme Malignancy

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief 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.

Conditions

Shwachman-Diamond Syndrome

SDS

IBMF

Congenital Neutropenia

Heme Malignancy

Study ID

NCT06999954

Start date

Feb 7, 2024

Status verified date

May, 2025

Completion date

Dec, 2088

Anticipated

Primary completion date

Dec, 2088

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

8000 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Patient (or caregiver) reported symptoms over time [ Time Frame: At baseline and every 12 months, prospectively. ]
  • Genetics report uploaded by patient (or caregiver) [ Time Frame: Through study completion when the genetics report is available. ]
  • Quality of life measures via PROMIS surveys [ Time Frame: Through study completion, an average of 2-4 times per year. ]
  • Patient reported burden of disease and treatment outcomes [ Time Frame: At baseline and every 12 months, prospectively. ]

Central Contacts and Locations

Central contacts

Eszter Hars, Ph.D.

6173291838ehars@sdsalliance.org

SDS-GPS Program Team

6173291838gps@sdsalliance.org

Locations

Shwachman-Diamond Syndrome Alliance Inc.

Recruiting

Woburn, Massachusetts, United States, 01888

Contacts

Eszter Hars, Ph.D.

6173291838ehars@sdsalliance.org

SDS-GPS Program Team

+16173291838gps@sdsalliance.org

Principal Investigator:

Eszter Hars, Ph.D.

More Information

Sponsor

Shwachman-Diamond Syndrome Alliance Inc

Last update posted

May 31, 2025

Last verified

May, 2025

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Shwachman-Diamond Syndrome Alliance Inc on 2025-05-31.