Transplantation for Patients With Sickle Cell Disease From Mismatched Family Donors of Bone Marrow

NCT ID: NCT02757885

Last Updated: 2023-10-12

Study Results

Results available

Outcome measurements, participant flow, baseline characteristics, and adverse events have been published for this study.

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Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

PHASE2

Total Enrollment

10 participants

Study Classification

INTERVENTIONAL

Study Start Date

2019-07-10

Study Completion Date

2021-12-14

Brief Summary

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The purpose of this study is to learn if it is possible and safe to treat persons with severe sickle cell disease (SCD) by bone marrow transplant (BMT) from human leukocyte antigen (HLA) half-matched related donors. Preparation before transplant includes the chemotherapy drugs hydroxyurea, fludarabine, thiotepa, anti-thymocyte globulin, and cyclophosphamide. It also includes radiation.

Detailed Description

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The purpose of this study is to learn if it is possible and safe to treat persons with severe sickle cell disease (SCD) by bone marrow transplant (BMT) from human leukocyte antigen (HLA) half-matched related donors. Preparation before transplant includes the chemotherapy drugs hydroxyurea, fludarabine, thiotepa, anti-thymocyte globulin, and cyclophosphamide. It also includes radiation.

Investigators also seek to understand the side effects of BMT in adolescents and young adults with SCD and measure how often serious side effects occur including those that are expected and unexpected. After transplant, investigators will measure the health of the body organs that ordinarily would have been damaged by having SCD in addition to testing the lungs, brain, and kidneys.

Conditions

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Sickle Cell Disease

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Bone Marrow Recipient

Single arm open label study: Participants with sickle cell disease (SCD) will receive bone marrow from a human leukocyte antigen (HLA) mismatched donor.

Group Type EXPERIMENTAL

Bone Marrow Transplant (BMT)

Intervention Type PROCEDURE

Participants will receive a bone marrow infusion from a human leukocyte antigen (HLA) mismatched donor through a central venous catheter.

Hydroxyurea

Intervention Type DRUG

Hydroxyurea is part of the bone marrow transplant preparative regimen. Hydroxyurea will be administered at a dose of 30 mg/kg orally as a single daily dose for 90 days (from day -100 to day-10). Hydroxyurea dosing will be based on adjusted body weight in participants weighing \>125% ideal body weight.

Thiotepa

Intervention Type DRUG

Thiotepa is part of the bone marrow transplant preparative regimen. Thiotepa will be administered at a dose of 10mg/kg intravenously (IV) over 2 hours or per institutional guidelines on day -7. Thiotepa dosing will be based on adjusted body weight in patients weighing \>125% ideal body weight.

Fludarabine monophosphate

Intervention Type DRUG

Fludarabine is part of the bone marrow transplant preparative regimen. Fludarabine 30 mg/m2/day will be administered from day -7 to day -3 (for a total of 150 mg/m2 over 5 consecutive days) and administered intravenously (IV) over a minimum of 30 minutes. In participants weighing \> 125% ideal body weight, fludarabine will be dose based upon adjusted body weight.

Cyclophosphamide

Intervention Type DRUG

Cyclophosphamide is part of the bone marrow transplant preparative regimen. Cyclophosphamide will be administered on days -6 and -5 prior to bone marrow infusion at a dose of 14.5 mg/kg intravenously (IV) infused over 1-2 hours.

Post bone marrow infusion cyclophosphamide will be infused on days +3 (between 60 and 72 hours post marrow infusion) and +4 (approximately 24 hours after day +3 dose) at a dose of 50 mg/kg IV infused over 1-2 hours.

For participants weighing more than 125% of their ideal body weight, dosing will be based on adjusted ideal body weight.

Rabbit Anti-thymocyte Globulin

Intervention Type OTHER

Rabbit anti-thymocyte globulin (ATG) is part of the bone marrow transplant preparative regimen. It is an infusion of rabbit-derived antibodies against human T cells used for prevention of acute rejection in organ transplantation. Rabbit ATG will be administered on day -9 at 0.5 mg/kg and on days -8 and -7 at 2 mg/kg (for a total dose 4.5 mg/kg).

Total Body Irradiation

Intervention Type RADIATION

Participants will receive 200 cGy of TBI in a single fraction.

Interventions

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Bone Marrow Transplant (BMT)

Participants will receive a bone marrow infusion from a human leukocyte antigen (HLA) mismatched donor through a central venous catheter.

Intervention Type PROCEDURE

Hydroxyurea

Hydroxyurea is part of the bone marrow transplant preparative regimen. Hydroxyurea will be administered at a dose of 30 mg/kg orally as a single daily dose for 90 days (from day -100 to day-10). Hydroxyurea dosing will be based on adjusted body weight in participants weighing \>125% ideal body weight.

Intervention Type DRUG

Thiotepa

Thiotepa is part of the bone marrow transplant preparative regimen. Thiotepa will be administered at a dose of 10mg/kg intravenously (IV) over 2 hours or per institutional guidelines on day -7. Thiotepa dosing will be based on adjusted body weight in patients weighing \>125% ideal body weight.

Intervention Type DRUG

Fludarabine monophosphate

Fludarabine is part of the bone marrow transplant preparative regimen. Fludarabine 30 mg/m2/day will be administered from day -7 to day -3 (for a total of 150 mg/m2 over 5 consecutive days) and administered intravenously (IV) over a minimum of 30 minutes. In participants weighing \> 125% ideal body weight, fludarabine will be dose based upon adjusted body weight.

Intervention Type DRUG

Cyclophosphamide

Cyclophosphamide is part of the bone marrow transplant preparative regimen. Cyclophosphamide will be administered on days -6 and -5 prior to bone marrow infusion at a dose of 14.5 mg/kg intravenously (IV) infused over 1-2 hours.

Post bone marrow infusion cyclophosphamide will be infused on days +3 (between 60 and 72 hours post marrow infusion) and +4 (approximately 24 hours after day +3 dose) at a dose of 50 mg/kg IV infused over 1-2 hours.

For participants weighing more than 125% of their ideal body weight, dosing will be based on adjusted ideal body weight.

Intervention Type DRUG

Rabbit Anti-thymocyte Globulin

Rabbit anti-thymocyte globulin (ATG) is part of the bone marrow transplant preparative regimen. It is an infusion of rabbit-derived antibodies against human T cells used for prevention of acute rejection in organ transplantation. Rabbit ATG will be administered on day -9 at 0.5 mg/kg and on days -8 and -7 at 2 mg/kg (for a total dose 4.5 mg/kg).

Intervention Type OTHER

Total Body Irradiation

Participants will receive 200 cGy of TBI in a single fraction.

Intervention Type RADIATION

Eligibility Criteria

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Inclusion Criteria

1. Disease severity: Participants with SCD who have 1 or more of the following (i-v).

* Clinically significant neurologic event (stroke) or any neurological deficit lasting \> 24 hours;
* History of two or more episodes of acute chest syndrome (ACS) in the 2-year period preceding enrollment despite the institution of supportive care measures (i.e. asthma therapy and/or hydroxyurea);
* History of three or more severe pain crises per year in the 2-year period preceding enrollment despite the institution of supportive care measures (i.e. a pain management plan and/or treatment with hydroxyurea);
* Administration of regular red blood cell (RBC) transfusion therapy, defined as receiving 8 or more transfusions per year for ≥ 1 year to prevent vaso-occlusive clinical complications (i.e. pain, stroke, and ACS). Patients on chronic transfusion who have to discontinue transfusion because of allo-sensitization will be eligible.
* An echocardiographic finding of tricuspid valve regurgitant jet (TRJ) velocity ≥ 2.7 m/sec. Patients under the age of 18 years must have cardiac catheterization proven pulmonary arterial hypertension to qualify on this eligibility criterion.
2. Age: Patients must be 15 - 40 years of age inclusive OR if younger than 15 years must be pubertal
3. Adequate physical function as measured by:

* Karnofsky/Lansky performance score ≥ 60
* Cardiac function: Left ventricular ejection fraction (LVEF) \> 40% or LV shortening fraction \> 26% by cardiac echocardiogram or by MUGA scan.
* Pulmonary function: Pulse oximetry with a baseline O2 saturation of ≥ 85% and DLCO \> 40% (corrected for hemoglobin).
* Renal function: Serum creatinine ≤ 1.5 x the upper limit of normal for age as per local laboratory and 24 hour urine creatinine clearance \> 70 mL/min/1.73 m2 or GFR \> 70 mL/min/1.73 m2 by radionuclide GFR.
* Hepatic function: Serum conjugated (direct) bilirubin \< 2 x upper limit of normal for age as per local laboratory and ALT and AST \< 5 x upper limit of normal as per local laboratory. Patients with hyperbilirubinemia as a consequence of hyperhemolysis, or who experience a sudden, profound change in the serum hemoglobin after a RBC transfusion, are not excluded.
* For participants with a suitable donor who meet eligibility criteria and are willing to proceed to HCT, if they have received chronic transfusion therapy for ≥ 1 year and have clinical evidence of iron overload by serum ferritin or MRI, an evaluation by liver biopsy is required. Histological examination of the liver must document the absence of cirrhosis, bridging fibrosis, and active hepatitis. The absence of bridging fibrosis will be determined using the histological grading and staging scale
4. Suitable Donor: To undergo transplantation on this study, participants must have an adult first degree relative who shares at least 1 human leukocyte antigen (HLA) haplotype with the participant, does not have SCD or other hemoglobinopathy, and is in good health; if these criteria are met, they will be allowed to serve as donors. Relatives with sickle cell trait are not excluded as donors. When more than 1 donor is available, the donor with the fewest HLA allele mismatches will be chosen, unless the patient had donor anti-HLA antibodies or there was a medical reason to exclude the donor. If donor anti-HLA antibodies are detected, the next best related match will be chosen. Umbilical cord blood or peripheral blood stem cell donors will not be accepted.

Exclusion Criteria

* Availability of HLA matched sibling or 8 of 8 HLA-A, B, C and DRB1 matched unrelated donor
* Presence of donor specific antibodies in the patient
* Histological examination of the liver must document the absence of cirrhosis, bridging fibrosis and active hepatitis. The absence of bridging fibrosis will be determined using the histological grading and staging scale as described by Ishak and colleagues (1995). The presence of bridging fibrosis will be an exclusion criterion.
* Uncontrolled bacterial, viral or fungal infection in the 6 weeks before enrollment
* Seropositivity for HIV
* Previous hematopoietic cell transplantation (HCT)
* Participation in a clinical trial in which the patient received an investigational drug or device or off-label use of a drug or device within 3 months of enrollment
* Demonstrated lack of compliance with prior medical care
* Unwilling to use approved contraception for at least 6 months after transplant
* A history of substance abuse in the last 5 years that interferes with care
* Pregnant or breast-feeding females at the time of consideration for HCT

Donor Selection Criteria:

Preference will be given to related marrow donors who are 2-4 (out of 8) HLA antigen mismatched and towards whom the recipient does not have donor specific antibodies. Donors will sign an informed consent disclosing that the marrow donation will be used by a patient participating in this study. The donor must be matched with the recipient for at least 4 of 8 HLA alleles (HLA -A, -B, -C and -DRB1 by allele-level DNA methodology). The target total nucleated cell count (TNC) is 3.5-8.0 x 108/kg of recipient weight. Marrow will be collected without mobilization. Mobilized peripheral blood stem cell (HPC-A) collections will not be permitted. Donors must undergo hemoglobinopathy screening by electrophoresis; donors who have a hemoglobinopathy will be excluded but trait condition is acceptable.
Minimum Eligible Age

15 Years

Maximum Eligible Age

40 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Emory University

OTHER

Sponsor Role lead

Responsible Party

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Suhag Parikh

Professor of Pediatrics

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Lakshmanan Krishnamurti, MD

Role: PRINCIPAL_INVESTIGATOR

Emory University

Locations

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Children's Healthcare of Atlanta

Atlanta, Georgia, United States

Site Status

Countries

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United States

Provided Documents

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Document Type: Study Protocol and Statistical Analysis Plan

View Document

Other Identifiers

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IRB00080955

Identifier Type: -

Identifier Source: org_study_id

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