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New treatment option for Sickle Cell Disease
Official title Hematopoietic Stem Cell BCL11A Enhancer Gene Editing for Severe β-Hemoglobinopathies
ClinicalTrials.gov ID: NCT06647979
What this study is testing
What is autologous bone marrow derived CD34+ HSPCs electroporated with BCL11A enhancer targeting Cas9 ribonucleoprotein?
autologous bone marrow derived CD34+ HSPCs electroporated with BCL11A enhancer targeting Cas9 ribonucleoprotein is an investigational medicine, given as an infusion into a vein, being studied as a potential treatment for sickle cell disease.
Plain-language explanation of the investigational treatment - it is being studied and is not an approved or proven therapy. The study team can confirm the details.
- What it's testing
- A promising approach for the treatment of genetic diseases is called gene therapy. Gene therapy is a relatively new field of medicine that uses genetic material (mostly DNA) from the patient to treat his or her own disease.
- Phase 1: an early, usually small safety study
- Which group you join is decided by chance.
A plain-language read of the study's public ClinicalTrials.gov listing. The study team confirms the details.
Who can take part
Ages 13 to 40
You may be able to join if
- Diagnosis of either a) sickle cell disease with genotype HbSS, HbS/B0 thalassemia, HbSD, or HbSO, or b) transfusion-dependent β-thalassemia
- Age 13-40 years.
- Clinically severe disease, defined as: For sickle cell disease, the presence of one or more of the following clinical complications: i) Minimum of...
- Adequate hematologic parameters including:
- White blood cell (WBC) count within the range of 2.5 - 25.0 x 109 /L
You likely can't join if
- people who have concomitant condition or illness including, but not limited to:
- Uncontrolled infection, such as current febrile illness, infection requiring parenteral antibiotics, or systemic fungal infection.
- Active malignancy.
- Active complication of underlying hemoglobinopathy that would place the patient at unacceptable risk for participation, in the judgment of the...
- Major surgery in the past 30 days.
- Medical/psychiatric illness/social situations that would limit compliance with study requirements as determined by the treating physician.
See the full eligibility criteria
- Diagnosis of either a) sickle cell disease with genotype HbSS, HbS/B0 thalassemia, HbSD, or HbSO, or b) transfusion-dependent β-thalassemia
- Age 13-40 years.
- Clinically severe disease, defined as: For sickle cell disease, the presence of one or more of the following clinical complications: i) Minimum of two episodes of acute chest syndrome (ACS) in the 2 years before study...
- Adequate hematologic parameters including:
- White blood cell (WBC) count within the range of 2.5 - 25.0 x 109 /L
- Platelet count within the range of 150 - 700 x 109 /L
- Adequate organ function and performance status:
- Karnofsky performance status ≥70%
- Serum creatinine \</=1.5 times the upper limit of normal for age, and calculated creatinine clearance or GFR \</= 60 mL/min/1.73 m2.
- Direct bilirubin ≤ 2.0 mg/dL
- DLCO (corrected for hemoglobin), FEV1, FVC \>50% of predicted
- Left ventricular ejection fraction \>40% or shortening fraction \>25%
- For sickle cell patients: Failure of hydroxyurea therapy due to lack of clinical improvement, inability to tolerate due to side effects (e.g., myelosuppression, gastrointestinal symptoms, or hepatic enzyme elevations)...
- Confirmed sickle cell disease or β-thalassemia diagnosis by molecular genetic testing.
- No HLA genotypically-identical related appropriate bone marrow donor available.
- Parental/guardian/patient signed informed consent.
- Willingness to return for follow-up for 15 years.
- people who have concomitant condition or illness including, but not limited to:
- Uncontrolled infection, such as current febrile illness, infection requiring parenteral antibiotics, or systemic fungal infection.
- Active malignancy.
- Active complication of underlying hemoglobinopathy that would place the patient at unacceptable risk for participation, in the judgment of the Investigators.
- Major surgery in the past 30 days.
- Medical/psychiatric illness/social situations that would limit compliance with study requirements as determined by the treating physician.
- Contraindication to administration of conditioning medication (busulfan).
- people who have undergone allogeneic or autologous hematopoietic stem cell transplant previously.
- Either or both of the following findings on screening bone marrow aspirate/biopsy: a) diagnosis of myelodysplastic syndrome (MDS) based on morphology and/or cytogenetics (based on WHO definitions) or b) pathogenic...
- For SCD patients:
- Severe cerebral vasculopathy (defined by occlusion or stenosis in the circle of Willis; or presence of Moyamoya disease)
- Receiving a chronic transfusion regimen for primary or secondary stroke prophylaxis. (Note: patients with a history of abnormal transcranial Doppler (TCD) who have transitioned from transfusions to hydroxyurea for...
- History of overt stroke or any neurologic event lasting \> 24 hours. (Note: patients with imaging evidence of silent stroke but not on a chronic transfusion regimen are not excluded.)
- Severe iron overload that is deemed to be grounds for exclusion based on the opinion of the Principal Investigator.
- Known positive HIV serology or HIV nucleic acid testing, or positive serology for HCV, HBV, or HTLV.
- Known acute hepatitis or evidence of moderate or severe portal fibrosis or cirrhosis on prior biopsy.
- Receipt of an investigational study drug or procedure within 90 days of study enrollment.
- Pregnancy, or breastfeeding in a postpartum female, or absence of adequate contraception for fertile people. Females of child-bearing potential must agree to use a medically acceptable method of birth control such as...
- An assessment by the Investigators that the subject will not comply with the study procedures outlined in the study protocol, or that, as determined by the investigators and/or transplant physician, the subject has any...
- Patients carrying at least one cytosine (C) alternate allele at the SNP site rs114518452, chr2:210530659-210530659 (GRCh38/hg38), where guanine (G) is the reference allele.
The study team makes the final eligibility decision.
Where it's taking place
- Boston, Massachusetts, United States
Questions & answers
Do participants get paid in this trial?
This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.
Is it free to join, and do I need insurance?
Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.
How long does this study last?
The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.
Who can join this trial?
This study is enrolling all sexes, 13 years to 40 years. The study team makes the final eligibility decision.
Where is this trial taking place?
Study sites include Boston, Massachusetts, United States. Enter your location above to see the nearest site and check your eligibility.
Explore other conditions
BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from ClinicalTrials.gov; the study team decides eligibility.