What side effects are associated with this type of intervention?

Common treatments for Refsum Disease, similar to the Busulfan and Fludarabine conditioning regimen, can have significant side effects. Busulfan may cause mucositis, hepatic toxicity, and pulmonary toxicity. Fludarabine can lead to immunosuppression, increasing the risk of infections, as well as myelosuppression and neurotoxicity. Patients undergoing these treatments require careful monitoring to manage these potential adverse effects.

What prior FDA approvals exist?

The provided context does not mention specific FDA approvals or treatments for Refsum Disease. Refsum Disease is typically managed through dietary restrictions to limit phytanic acid intake and, in some cases, plasmapheresis to reduce phytanic acid levels. There are no direct references to the use of alkylating agents like busulfan or purine analogs like fludarabine for this condition in the provided information.

What other types of research exist?

Promising novel alternatives to the Busulfan and Fludarabine conditioning regimen include the Treosulfan-Fludarabine-Thiotepa combination, which is noted for its reduced toxicity while maintaining myeloablative properties. This regimen has shown potential in patients not fitting criteria for conventional myeloablative transplant regimens. Further prospective randomized studies are necessary to fully evaluate its efficacy and safety.

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Chemotherapy

Stem Cell Transplantation for Osteopetrosis

Phase 2

Recruiting

Led By Paul Orchard, M.D.

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

Severe Osteopetrosis (OP)

Mitochondrial Neurogastrointestingal Encephalopathy (MNGIE)

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 2 years

Awards & highlights

No Placebo-Only Group

Summary

This trial tests a treatment using busulfan and fludarabine to prepare patients with certain genetic disorders for a bone marrow transplant. The goal is to safely replace their bone marrow with healthy donor cells by carefully monitoring drug levels. Busulfan is used to clear out bone marrow cells before the transplant, and fludarabine is being tested as a less harmful alternative to another drug.

Who is the study for?

This trial is for patients aged 0-55 with various inherited metabolic disorders like Hurler syndrome, Hunter syndrome without severe neurologic disease, and severe osteopetrosis. Participants must have a suitable stem cell donor, good organ function, and no recent myeloablative chemotherapy or uncontrolled infections.

What is being tested?

The study tests the effectiveness of busulfan- and fludarabine-based conditioning regimens with busulfan drug monitoring in achieving successful stem cell engraftment while minimizing transplant-related mortality in patients with inherited metabolic disorders and osteopetrosis.

What are the potential side effects?

Potential side effects include reactions to medication such as nausea, vomiting, diarrhea; risk of infection; mouth sores; fatigue; liver problems indicated by changes in skin/eye coloration; low blood counts leading to bleeding or bruising.

Eligibility Criteria

Inclusion Criteria

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

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I have been diagnosed with severe Osteopetrosis.

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I have been diagnosed with MNGIE.

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I am between 0 and 55 years old.

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I have been diagnosed with Infantile Refsum disease.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 2 years

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~2 years

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

Treatment Details

Study Objectives

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

Primary study objectives

Percent of subjects who achieve high-level donor hematopoietic engraftment

Secondary study objectives

Graft-versus-host disease

Post-HSCT changes in disease

Regimen-related toxicity

+1 more

Awards & Highlights

No Placebo-Only Group

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

Trial Design

7Treatment groups

Experimental Treatment

Group I: cALD SR-B (Standard-Risk, Regimen B)Experimental Treatment3 Interventions

See intervention descriptions.

Group II: cALD SR-A (Standard-Risk, Regimen A)Experimental Treatment3 Interventions

See intervention descriptions.

Group III: cALD HR-D (High-Risk, Regimen D)Experimental Treatment3 Interventions

See intervention descriptions.

Group IV: cALD HR-C (High-Risk, Regimen C)Experimental Treatment3 Interventions

See intervention descriptions.

Group V: OP and IMD -Haplo-Identical OnlyExperimental Treatment2 Interventions

Severe Osteopetrosis (OP) and Inhterited Metabolic Disorders (IMD) -Haplo-Identical Only See intervention descriptions.

Group VI: OP - Except Haplo-IdenticalExperimental Treatment2 Interventions

Severe Osteoperosis (OP) - Except Haplo-Identical See intervention descriptions.

Group VII: IMD - Except Haplo-identicalExperimental Treatment2 Interventions

Inherited Metabolic Disease (IMD) - Except Haplo-Identical See intervention descriptions.

Treatment

First Studied

Drug Approval Stage

How many patients have taken this drug

Stem Cell Transplantation

2003

Completed Phase 3

~610

0 / 4Eligibility 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

Refsum Disease treatments primarily aim to reduce the levels of phytanic acid in the body. This is achieved through dietary restrictions to limit the intake of phytanic acid and plasmapheresis to remove it from the blood. While Busulfan and Fludarabine are not used for Refsum Disease, their mechanisms—Busulfan causing DNA cross-linking and Fludarabine inhibiting DNA synthesis—highlight the importance of targeting specific molecular pathways in treatment. For Refsum Disease, the focus is on managing the metabolic pathway to prevent the accumulation of toxic substances, which is crucial for preventing the disease's symptoms and complications.

Targeted busulfan and fludarabine-based conditioning for bone marrow transplantation in chronic granulomatous disease.Immunosuppressive treatment for idiopathic membranous nephropathy in adults with nephrotic syndrome.