What side effects are associated with this type of intervention?

The most common treatments for Shwachman-Diamond Syndrome, particularly hematopoietic stem cell transplantation (HCT), can have several side effects. These include an increased risk of infections due to immunosuppression, graft-versus-host disease (GVHD), which can affect various organs, and long-term complications such as endocrine dysfunctions (e.g., thyroid disorders, diabetes), growth impairment, and secondary malignancies. Additionally, patients may experience short-term side effects like nausea, vomiting, and fatigue due to the high-dose chemotherapy or radiation used in the conditioning regimen before transplantation.

What prior FDA approvals exist?

Shwachman-Diamond Syndrome (SDS) is a rare genetic disorder primarily affecting the bone marrow, pancreas, and skeletal system. While there are no specific FDA-approved drugs exclusively for SDS, hematopoietic stem cell transplantation (HSCT) is a recognized treatment option for severe cases, particularly those involving bone marrow failure or leukemia. HSCT aims to replace the damaged or diseased bone marrow with healthy stem cells to restore normal blood function. This approach is similar to treatments being studied in clinical trials for other high-risk hematologic conditions.

What other types of research exist?

Promising novel alternatives to stem cell transplantation for Shwachman-Diamond Syndrome patients include nonmyeloablative conditioning protocols, which reduce toxicity and expand donor options, and gene therapy, which aims to correct the genetic defects causing the syndrome. These approaches are being explored to improve outcomes and reduce complications associated with traditional stem cell transplantation.

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Chemotherapy

Stem Cell Transplant for Blood Disorders

N/A

Recruiting

Led By Ashish Gupta, MBBS, MPH

Research Sponsored by Masonic Cancer Center, University of Minnesota

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Absence of decompensated congestive heart failure, or uncontrolled arrhythmia and left ventricular ejection fraction > 40%

Acceptable stem cell source identified

Must not have

Active, uncontrolled infection

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 6 months, 1 and 2 years

Awards & highlights

No Placebo-Only Group

Summary

This trial is studying how well stem cell transplants work for patients with blood diseases that are not cancer. The treatment involves giving patients healthy stem cells from a donor to replace their damaged or diseased cells. This method is the oldest and most widely used technique of stem cell transplant, primarily used to treat blood disorders.

Who is the study for?

This trial is for people with serious blood disorders like Sickle Cell Disease and Thalassemia, who have a suitable stem cell donor. They must be in stable heart health, have reasonable physical function, and normal liver/kidney function. It's not for those with active infections, pregnant or breastfeeding women, or HIV-positive individuals.

What is being tested?

The study tests different ways to prepare patients for stem cell transplants using less intense chemotherapy (reduced intensity/toxicity regimens) or stronger chemo (myeloablative regimen), aiming to treat non-cancerous blood diseases.

What are the potential side effects?

Potential side effects include reactions to the transplant like graft-versus-host disease, infection risks due to weakened immunity from chemo prep regimens, organ damage from high-dose treatments, and general transplant-related complications.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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My heart functions well, without severe failure or uncontrolled irregular heartbeat.

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I have a suitable stem cell donor or source.

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I have a blood disorder that may require a stem cell transplant.

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I am mostly active and can care for myself.

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My kidney function is within the required range.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

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I currently have an infection that isn't under control.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 6 months, 1 and 2 years

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~6 months, 1 and 2 years

This trial's timeline: 3 weeks for screening, Varies for treatment, and 6 months, 1 and 2 years for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Secondary study objectives

disease free survival

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

3Treatment groups

Experimental Treatment

Group I: Reduced Toxicity Ablative RegimenExperimental Treatment1 Intervention

For use in patients with a matched sibling donor or unrelated UCB donor and DBA patients who are \<12 years and/or have mild/moderate iron exposure.

Group II: Reduced Intensity Preparative RegimenExperimental Treatment1 Intervention

For use in patients with unrelated donor bone marrow and for DBA patients who are \>12 years and/or have significant iron exposure.

Group III: Myeloablative Preparative RegimenExperimental Treatment1 Intervention

For use in patients with a matched sibling donor, unrelated umbilical cord blood and in those with severe thalassemia.

0 / 6Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

Shwachman-Diamond Syndrome (SDS) is a genetic disorder that primarily affects the bone marrow, leading to hematologic abnormalities. Hematopoietic stem cell transplantation (HSCT) is a critical treatment for SDS patients with severe bone marrow dysfunction. HSCT replaces the patient's damaged bone marrow with healthy stem cells from a donor, restoring normal blood cell production and improving immune function. This treatment is vital for SDS patients as it addresses the underlying cause of their hematologic issues, reducing the risk of severe infections and other complications associated with bone marrow failure.