NCT03263559

Brief Summary

This is a Phase II, single arm, multi-center trial, designed to estimate the efficacy and toxicity of haploidentical bone marrow transplantation (BMT) in patients with sickle cell disease (SCD). Based on their age and entry criteria patients are stratified into two groups: (1) children with severe SCD; and (2) adults with severe SCD.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
95

participants targeted

Target at P50-P75 for phase_2

Timeline
Completed

Started Oct 2017

Longer than P75 for phase_2

Geographic Reach
1 country

32 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

August 24, 2017

Completed
4 days until next milestone

First Posted

Study publicly available on registry

August 28, 2017

Completed
1 month until next milestone

Study Start

First participant enrolled

October 3, 2017

Completed
7.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 29, 2025

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 29, 2025

Completed
1.2 years until next milestone

Results Posted

Study results publicly available

April 29, 2026

Completed
Last Updated

April 29, 2026

Status Verified

April 1, 2026

Enrollment Period

7.3 years

First QC Date

August 24, 2017

Results QC Date

January 28, 2026

Last Update Submit

April 27, 2026

Conditions

Keywords

Reduced Intensity ConditioningHaploidenticalBone MarrowTransplantSickle Cell Disease

Outcome Measures

Primary Outcomes (1)

  • Percentage of Participants With Two-Year Post-Transplant Event Free Survival (EFS)

    EFS is defined as survival without a qualifying event from transplant. Primary graft failure (PGF), secondary graft failure (SGF), second infusion of hematopoietic cells, or death from any cause will count as events for this endpoint. This endpoint was adjudicated by an Endpoint Review Committee. PGF is lack of engraftment on or before Day 42 post-transplant. Engraftment is defined as having greater than or equal to 5% donor cells post-transplant, from any molecular chimerism assessment (e.g., unsorted, myeloid, or T-cell) on a peripheral blood or bone marrow aspirate sample. SGF is defined as \< 5% donor whole blood or myeloid chimerism in peripheral blood or bone marrow beyond day +42 post-transplant in patients with prior documentation of hematopoietic recovery with \>5% donor cells by day +42 post-transplant. Infusion of a second stem cell product will be considered graft rejection, and counted toward primary or, depending on timing of the second infusion, secondary graft rejection

    2 years post-transplant

Secondary Outcomes (33)

  • Percentage of Participants With Two-Year Post-Transplant Overall Survival (OS)

    2 years post-transplant

  • Number of Participants With Graft Failure

    2 Years post-transplant

  • Percentage of Participants With Disease Recurrence Post-Transplant

    1 year and 2 years post-transplant

  • Percentage of Participants With Neutrophil Recovery Post-Transplant

    42 Days post-transplant

  • Percentage of Participants With Platelet Recovery Post-Transplant

    60 Days, 100 Days post-transplant

  • +28 more secondary outcomes

Other Outcomes (1)

  • Mean Follow-up Days Since Transplant

    From transplant up to 2 years post-transplant

Study Arms (1)

Haploidentical Transplantation

EXPERIMENTAL

A conditioning regimen with Hydroxyurea, rabbit-ATG, Thiotepa, Fludarabine, Cyclophosphamide, Total Body Irradiation, and Mesna will be administered prior to Haploidentical Bone Marrow Transplantation.

Procedure: Haploidentical Bone Marrow TransplantationDrug: HydroxyureaDrug: Rabbit-ATGDrug: ThiotepaDrug: FludarabineDrug: CyclophosphamideRadiation: Total Body IrradiationDrug: Mesna

Interventions

Eligible patients with a first degree Human Leukocyte Antigen (HLA)- haploidentical donor will undergo Haploidentical bone marrow transplantation at Day 0 with non T-cell depleted bone marrow. For Graft-vs-Host Disease (GVHD) prophylaxis, patients will be given sirolimus and mycophenolate mofetil beginning on Day +5.

Haploidentical Transplantation

HU will be given daily at 30mg/kg from Day -70 through Day -10.

Also known as: Hydrea, Droxia
Haploidentical Transplantation

Rabbit-ATG (rATG) will be given at 0.5mg/kg on Day -9, and at 2.0mg/kg on Day -8 and Day -7.

Also known as: Thymoglobulin
Haploidentical Transplantation

Thiotepa will be given at 10mg/kg on Day -7

Also known as: Chemo
Haploidentical Transplantation

Fludarabine will be given at 30mg/m2 from Day -6 to Day -2

Also known as: Fludara
Haploidentical Transplantation

Cyclophosphamide will be given at 14.5mg/kg on Day -6 and Day -5, and at 50 mg/kg on Days +3 and +4.

Also known as: Cytoxan®
Haploidentical Transplantation

Total Body Irradiation will be given at 200cGy on Day -1

Also known as: TBI
Haploidentical Transplantation
MesnaDRUG

Mesna will be given at 40mg/kg on Days +3 and +4

Also known as: Mesnex
Haploidentical Transplantation

Eligibility Criteria

Age5 Years - 45 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)

You may qualify if:

  • Adequate physical function as measured by all of the following:
  • A Karnofsky/Lansky performance score of ≥ 60.
  • Cardiac function: Left ventricular ejection fraction (LVEF) \> 40%; or LV shortening fraction \> 26% by cardiac echocardiogram or by Multi Gated Acquisition Scan (MUGA) scan.
  • Pulmonary function: Pulse oximetry with a baseline O2 saturation of ≥ 85% and Diffusing capacity of the lung for carbon monoxide (DLCO) \> 40% (corrected for hemoglobin).
  • Renal function: Serum creatinine ≤ 1.5 x upper limit of normal for age and estimated or measured creatinine clearance ≥ 70 mL/min/1.73 m²
  • Hepatic function:
  • Serum conjugated (direct) bilirubin \< 2x upper limit of normal for age as per local laboratory. Participants with hyperbilirubinemia as the result of hyperhemolysis, or a severe drop in hemoglobin post blood transfusion, are not excluded.
  • Alanine aminotransferase (ALT) and aspartate aminotransferase (AST) \< 5x upper limit of normal as per local laboratory.
  • Liver MRI using a validated methodology per institutional preference (T2\* or R2\* or by ferriscan \[R2 MRI\]) for estimation of hepatic iron content is required for participants who are currently receiving ≥8 packed red blood cell transfusions per year for ≥1 year or have received ≥20 packed red blood cell transfusions (lifetime cumulative). Participants who have hepatic iron content ≥ 10 mg Fe/g liver dry weight by liver MRI must have a Gastroenterology/hepatology consultation with liver biopsy and histological examination including documentation of the absence of cirrhosis, bridging fibrosis, and active hepatitis.
  • Participants must be HLA typed at high resolution using DNA based typing at HLA-A, -B, -C, DRB1, and have available:
  • An HLA haploidentical first degree relative donor (parents, siblings or half siblings, or children) with 2, 3, or 4 (out of 8) HLA-mismatches who is willing and able to donate bone marrow. A unidirectional mismatch in either the graft versus host or host versus graft direction is considered a mismatch. The donor and recipient must be HLA identical for at least one antigen (using high resolution DNA based typing) at the following genetic loci: HLA-A, HLA-B, HLA-C, and HLA-DRB1. Fulfillment of this criterion shall be considered sufficient evidence that the donor and recipient share one HLA haplotype, and typing of additional family members is not required. Confirmatory donor HLA typing must be completed \< 100 days prior to Segment A enrollment
  • Umbilical cord blood or peripheral blood stem cell donors will not be accepted.
  • Age 5.00 - 14.99 years at Segment A enrollment
  • Participants with sickle cell anemiam disease (Hb SS or SĂŸÂ° Thalassemia) who have one or more of the following:
  • A neurological event resulting in focal neurologic deficits that lasted ≥ 24 hours (classical clinical definition of stroke, not requiring imaging studies of the brain) OR a focal neurological event resulting in abnormalities on T2-weighted or FLAIR images using a MRI scan, indicative of an acute infarct, with no other reasonable medical explanation (definition of a stroke supported with MRI imaging scans of the brain), OR both.
  • +15 more criteria

You may not qualify if:

  • Participants who have an HLA-matched sibling who is able and willing to donate bone marrow. Patients with a HLA-matched unrelated donor are not excluded.
  • Uncontrolled bacterial, viral or fungal infection in the 6 weeks before enrollment (currently taking medication with evidence of progression of clinical symptoms or radiologic findings).
  • Evidence of HIV infection or known HIV positive serology.
  • Participants who have received a previous hematopoetic cell transplant (HCT).
  • Participants who have had an Encephaloduroarteriosynangiosis (EDAS) procedure in the 6 months prior to enrollment
  • Participants who have received a prior solid organ transplant
  • Participants who have participated in another clinical trial in which the patient received an investigational or off-label use of a drug or device within 3 months of enrollment.
  • Females who are pregnant or breastfeeding.
  • Participants with clinically significant, uncontrolled autoimmune disease, requiring active medical management (immunosuppressive therapy or chemotherapy), which, in the judgment of the local Principal Investigator, indicates that the patient could not tolerate transplantation.
  • Females of child bearing potential (to include all female participants \> 10 years of age, unless postmenopausal for a minimum of 1 year before the time of consent or surgically sterilized), who do not agree to practice two (2) effective methods of contraception at the same time, or do not agree to practice true abstinence when this is in line with the preferred and usual lifestyle of the subject, from the time of signing of informed consent through 12 months post-transplant.
  • Males (even if surgical sterilized) who do not agree to practice effective barrier contraception, or who do not agree to practice true abstinence from the time of signing informed consent through 12 months post-transplant.
  • Presence of anti-donor specific HLA antibodies. HLA antibody presence and specificity will be determined by solid phase immunoassays. An anti-donor specific HLA antibody will be considered positive when the mean fluorescence intensity (MFI) is higher than the cut-off defined by each institution. Recommended cut-off values are MFI \>1000 for donor specific antibody to HLA-A, -B, and DRB1 and MFI \>2000 for HLA-C, DQB1 and DPB1. This must be measured before the final donor selection, and \< 100 days before enrollment in Segment A (preferably \< 30 days before Segment A enrollment). If MFI \>1000 for donor specific antibody to HLA-A, -B, DRB1 and/or MFI \>2000 for HLA-C, DQB1 and DPB1, documentation must be submitted to the DCC coordinator for review and approval by a Protocol Chair and/or Protocol Officer prior to enrollment

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (32)

University of Alabama at Birmingham

Birmingham, Alabama, 35294, United States

Location

UCSF Benioff Children's Hospital Oakland

Oakland, California, 94609, United States

Location

University of Colorado - Denver/Children's Hospital of Colorado

Aurora, Colorado, 80045, United States

Location

Children's National Medical Center

Washington D.C., District of Columbia, 20010, United States

Location

University of Florida College of Medicine

Gainesville, Florida, 32610, United States

Location

Nicklaus Children's Hospital/University of Miami Children's Hospital

Miami, Florida, 33155, United States

Location

H. Lee Moffitt Cancer Center

Tampa, Florida, 33612, United States

Location

Northside Hospital

Atlanta, Georgia, 30342, United States

Location

Riley Children's Hospital at IU Health

Indianapolis, Indiana, 46020, United States

Location

Indiana University Medical Center

Indianapolis, Indiana, 46202, United States

Location

Johns Hopkins University

Baltimore, Maryland, 21287, United States

Location

Children's Hospital of Michigan

Detroit, Michigan, 48201, United States

Location

Helen Devos Children's at Spectrum Health

Grand Rapids, Michigan, 49503, United States

Location

Cardinal Glennon Children's Hospital

St Louis, Missouri, 63104, United States

Location

Washington University, St. Louis

St Louis, Missouri, 63110, United States

Location

Hackensack University Medical Center

Hackensack, New Jersey, 07601, United States

Location

Roswell Park Cancer Center

Buffalo, New York, 14203, United States

Location

Northwell Health/Monter Cancer Center

Lake Success, New York, 11042, United States

Location

Levine Children's Hospital

Charlotte, North Carolina, 28203, United States

Location

Duke University Medical Center

Durham, North Carolina, 27705, United States

Location

University Hospitals of Cleveland/Case Western

Cleveland, Ohio, 44106, United States

Location

Cleveland Clinic Foundation

Cleveland, Ohio, 44195, United States

Location

Nationwide Children's Hospital

Columbus, Ohio, 43205-2696, United States

Location

University of Pittsburgh

Pittsburgh, Pennsylvania, 15260, United States

Location

Methodist Healthcare/West Cancer Center

Memphis, Tennessee, 38104, United States

Location

St. Jude Children's Research Hospital

Memphis, Tennessee, 38105, United States

Location

Vanderbilt University Medical Center

Nashville, Tennessee, 37232, United States

Location

Texas Children's Hospital (Baylor)

Houston, Texas, 77030, United States

Location

University of Texas/MD Anderson Cancer Center

Houston, Texas, 77030, United States

Location

Texas Transplant Institute

San Antonio, Texas, 78229, United States

Location

Fred Hutchinson Cancer Research Center

Seattle, Washington, 98109, United States

Location

The Medical College of Wisconsin

Wauwatosa, Wisconsin, 53226, United States

Location

Related Publications (3)

  • Hong S, Horwitz ME. Cures for Sickle Cell Abound - How about Access? NEJM Evid. 2025 Mar;4(3):EVIDe2400428. doi: 10.1056/EVIDe2400428. Epub 2025 Feb 25. No abstract available.

  • Kassim AA, Walters MC, Eapen M, Smith M, Logan BR, Solh M, McKinney C, Nieder M, Ross M, Kent M, Abusin GA, Mallhi K, Silva JG, Shaughnessy P, Kanter J, Haines H, Farah R, Khaled YA, Ritzau N, Mendizabal A, Abraham A, Bollard C, Cooke K, de la Fuente J, Hanna R, Horowitz MM, Jordan LC, Bakshi N, Krishnamurti L, Leifer E, Mahadeo KM, Shenoy S, Jones RJ, DeBaun MR, Brodsky RA. Haploidentical Bone Marrow Transplantation for Sickle Cell Disease. NEJM Evid. 2025 Mar;4(3):EVIDoa2400192. doi: 10.1056/EVIDoa2400192. Epub 2025 Feb 25.

  • Leonard A, Furstenau D, Abraham A, Darbari DS, Nickel RS, Limerick E, Fitzhugh C, Hsieh M, Tisdale JF. Reduction in vaso-occlusive events following stem cell transplantation in patients with sickle cell disease. Blood Adv. 2023 Jan 24;7(2):227-234. doi: 10.1182/bloodadvances.2022008137.

Related Links

MeSH Terms

Conditions

Anemia, Sickle Cell

Interventions

HydroxyureaAntilymphocyte SerumthymoglobulinThiotepaDrug Therapyfludarabinefludarabine phosphateCyclophosphamideWhole-Body IrradiationMesna

Condition Hierarchy (Ancestors)

Anemia, Hemolytic, CongenitalAnemia, HemolyticAnemiaHematologic DiseasesHemic and Lymphatic DiseasesHemoglobinopathiesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

UreaAmidesOrganic ChemicalsImmune SeraAntibodiesImmunoglobulinsImmunoproteinsBlood ProteinsProteinsAmino Acids, Peptides, and ProteinsSerum GlobulinsGlobulinsBiological ProductsComplex MixturesPhosphoramidesOrganophosphorus CompoundsTriethylenephosphoramideAziridinesAzirinesHeterocyclic Compounds, 1-RingHeterocyclic CompoundsTherapeuticsPhosphoramide MustardsNitrogen Mustard CompoundsMustard CompoundsHydrocarbons, HalogenatedHydrocarbonsRadiotherapyInvestigative TechniquesAlkanesulfonatesAlkanesulfonic AcidsAlkanesHydrocarbons, AcyclicSulfhydryl CompoundsSulfur CompoundsSulfonic AcidsSulfur Acids

Results Point of Contact

Title
Adam Mendizabal, PhD
Organization
The Emmes Company, LLC

Study Officials

  • Mary Horowitz, MD

    Center for International Blood and Marrow Transplant Research

    STUDY DIRECTOR

Publication Agreements

PI is Sponsor Employee
No
Restrictive Agreement
No

Study Design

Study Type
interventional
Phase
phase 2
Allocation
NA
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 24, 2017

First Posted

August 28, 2017

Study Start

October 3, 2017

Primary Completion

January 29, 2025

Study Completion

January 29, 2025

Last Updated

April 29, 2026

Results First Posted

April 29, 2026

Record last verified: 2026-04

Data Sharing

IPD Sharing
Will share

Results will be published in a manuscript and supporting information submitted to NIH BioLINCC (including data dictionaries, case report forms, data submission documentation, documentation for outcomes dataset, etc where indicated).

Shared Documents
STUDY PROTOCOL, ICF
Time Frame
Within 6 months of official study closure at participating sites.
Access Criteria
Available to the public
More information

Locations