New registry aims to unlock secrets of rare bone marrow disease

NCT ID NCT06056908

Recruiting now Knowledge-focused Sponsor: Boston Children's Hospital Source: ClinicalTrials.gov ↗

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study is creating a registry for people with Shwachman-Diamond Syndrome (SDS) or similar conditions. Researchers will collect medical records and biological samples from up to 5,000 participants to understand how the disease progresses and what treatments work best. The goal is to improve diagnosis and care for this rare genetic disorder.

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Conditions

The condition(s) this trial relates to.

Bone Marrow Failure Disorders Congenital Bone Marrow Failure Syndromes leukemia neutropenia neutropenia, severe congenital, 8, autosomal dominant Shwachman-Diamond syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

SHWACHMAN DIAMOND SYNDROME SHWACHMAN-DIAMOND SYNDROME-LIKE

Contacts and locations

Locations

Boston Children's Hospital
RECRUITING

Boston, Massachusetts, 02115, United States
Children's Hospital Colorado
RECRUITING

Aurora, Colorado, 80045, United States
Cincinnati Children's Hospital Medical Center
RECRUITING

Cincinnati, Ohio, 45229, United States
Dana-Farber Cancer Institute
RECRUITING

Boston, Massachusetts, 02115, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.