Gene Transfer Clinical Trial for Krabbe Disease (RESKUE)
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The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. |
ClinicalTrials.gov Identifier: NCT04693598 |
Recruitment Status :
Recruiting
First Posted : January 5, 2021
Last Update Posted : August 25, 2022
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Condition or disease | Intervention/treatment | Phase |
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Krabbe Disease | Biological: FBX-101 | Phase 1 Phase 2 |
Study Type : | Interventional (Clinical Trial) |
Estimated Enrollment : | 6 participants |
Allocation: | Non-Randomized |
Intervention Model: | Sequential Assignment |
Intervention Model Description: | Dose escalation study from a low dose to a high dose following safety review |
Masking: | None (Open Label) |
Primary Purpose: | Treatment |
Official Title: | A Phase 1/2 Clinical Study of Intravenous Gene Transfer With an AAVrh10 Vector Expressing GALC in Krabbe Subjects Receiving Hematopoietic Stem Cell Transplantation (RESKUE) |
Actual Study Start Date : | November 5, 2021 |
Estimated Primary Completion Date : | December 2024 |
Estimated Study Completion Date : | December 2024 |

Arm | Intervention/treatment |
---|---|
Experimental: Cohort 1 - Low Dose FBX-101 (aka AAVrh.10-GALC)
Participants will receive a single infusion at the lower dose (N=3 participants)
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Biological: FBX-101
A replication-deficient adeno-associated virus gene transfer vector expressing the human galactocerebrosidase (GALC) cDNA will be delivered one-time through a venous catheter inserted into a peripheral limb vein.
Other Name: AAVrh.10-hGALC |
Experimental: Cohort 2 - High Dose FBX-101 (aka AAVrh.10-GALC)
Participants will receive a single infusion at the higher dose (N=3 participants)
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Biological: FBX-101
A replication-deficient adeno-associated virus gene transfer vector expressing the human galactocerebrosidase (GALC) cDNA will be delivered one-time through a venous catheter inserted into a peripheral limb vein.
Other Name: AAVrh.10-hGALC |
- Safety as assessed by incidence and severity of adverse events and serious adverse events that are attributed to FBX-101. [ Time Frame: 24 months ]
- Safety as assessed by HSCT incident of engraftment. [ Time Frame: 24 months ]
- Efficacy as assessed by improvement of probability to achieve independent sitting compared to untreated patients or those receiving HSCT only. [ Time Frame: 12 months and 24 months ]
- Efficacy as assessed by improvement of gross motor function as measured by Peabody Developmental Motor Scale 2nd Edition (PDMS-2) above a functional age equivalent of 12 months compared to untreated patients or those receiving HSCT only [ Time Frame: 12 months and 24 months ]

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Ages Eligible for Study: | 1 Day to 12 Months (Child) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
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Diagnosis of infantile Krabbe disease, characterized by the following criteria outlined below:
- Galactocerebrosidase (GALC) activity levels in leukocytes compatible with the diagnosis of Krabbe disease according to the lab releasing the results; AND AT LEAST ONE OF THE FOLLOWING:
- Elevated psychosine predictive of infantile disease ≥ 9.0 nmol/L; OR
- Imaging or neurophysiological findings consistent with Krabbe disease (CSF, MRI, NCV, ABR); OR
- Two predicted pathogenic GALC mutations.
- Age at the time of screening: 1 day to 12 months
- Participant has been deemed eligible for treatment with HSCT (standard of care) or is within two weeks of HSC infusion
- Participant's parents or legal guardian consents to participate in the study and provides informed consent according to IRB guidelines prior to any study procedures being performed
- Parent(s) and/or legal guardian able to comply with the clinical protocol
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Participant must have adequate organ function at time of screening as measured by:
- Creatinine ≤ 1.5x upper limit of age appropriate normal and creatinine clearance ≥ 60 mL/min/1.73 m2
- Hepatic transaminases (ALT/AST) ≤ 2x age related upper limit of normal
- Ejection fraction of > 50% by echocardiogram or other appropriate study without evidence of pulmonary hypertension.
- Pulmonary evaluation testing demonstrating resting pulse oximeter > 92% on room air
- Coagulation tests within 110% of normal ranges for age. (PT/INR and PTT)
Exclusion Criteria:
- History of prior treatment with a gene therapy product
- Presence of major congenital anomaly affecting the neurological system
- Presence of any neurocognitive deficit or brain damage not attributable to Krabbe disease
- Active aspiration
- Signs of active infection or disease from cytomegalovirus, adenovirus or other viruses
- HIV positive
- Uncontrolled and progressive bacterial or fungal infection.
- Presence of any contraindication for MRI
- Use of any investigational product prior to study enrollment or current enrollment in another study that involves clinical interventions
- Any other medical condition, serious intercurrent illness, or extenuating circumstance that, in the opinion of the PI, would preclude participation in the study
- Ongoing veno-occlusive disease (VOD) as determined by liver ultrasound (moderate ascites and static or retrograde portal vein flow) the day before FBX-101 infusion.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04693598
Contact: Michelle Salvo | 380-239-2013 | medicalaffairs@forgebiologics.com |
United States, Michigan | |
University of Michigan Hospitals - Michigan Medicine | Recruiting |
Ann Arbor, Michigan, United States, 48109 | |
Contact: Bre'Anna Simpson 734-615-4630 sbreanna@med.umich.edu | |
Contact: Mark Vander Lugt, MD 616-340-7643 marvande@med.umich.edu | |
Principal Investigator: Mark Vander Lugt, MD |
Responsible Party: | Forge Biologics, Inc |
ClinicalTrials.gov Identifier: | NCT04693598 |
Other Study ID Numbers: |
FBX-101-RESKUE |
First Posted: | January 5, 2021 Key Record Dates |
Last Update Posted: | August 25, 2022 |
Last Verified: | August 2022 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
Plan Description: | There is no plan to share data |
Studies a U.S. FDA-regulated Drug Product: | Yes |
Studies a U.S. FDA-regulated Device Product: | No |
Lysosomal Storage Disorder Globoid Cell Leukodystrophy Leukodystrophy GALC |
Leukodystrophy, Globoid Cell Hereditary Central Nervous System Demyelinating Diseases Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases Sphingolipidoses Lysosomal Storage Diseases, Nervous System |
Leukoencephalopathies Demyelinating Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders |