Leukodystrophy, Globoid CellPhase 1/2GALax-CNCT04771416
Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects With Early Infantile Krabbe Disease
A Phase 1/2 study testing PBKR03 in people with Leukodystrophy, Globoid Cell, run by Gemma Biotherapeutics at 9 sites in 6 countries.
Trial summary
PBKR03 is a gene therapy for Krabbe Disease (Globoid cell leukodystrophy) intended to deliver a functional copy of the GALC gene to the brain and peripheral tissues. This study will evaluate the safety, tolerability and efficacy of this treatment by first evaluating two different doses in two different age groups… Read more about this study
- Who is it for?
- Ages 1 month to 9 months
- Conditions the study is for
- Leukodystrophy, Globoid Cell
- What is being tested?
- PBKR03
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 24 participants
- Where
- 9 sitesin 6 countries
- Study dates
- 24 Feb 2022to Jan 2030
- Phase
- Phase 1/2
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 month to 9 months
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- > 1 month and < 9 months of age at enrollment, either presymptomatic or symptomatic with first symptoms of Krabbe Disease at < 6 months of age
- Leukocyte GALC activity below lower limit of normal (LLN)
- Whole blood psychosine > 10 nM
- Biallelic pathogenic GALC gene variants previously associated with early infantile Krabbe Disease or variants classified as likely pathogenic
- Parents or the subject's legally authorized representative provide written informed consent prior to any study-related procedures, including screening evaluations
- Symptomatic subjects must exhibit a minimum level of neurological and developmental function that indicates that they have the potential to benefit from treatment, at least with slowing or stabilization of their disease. In particular, the subject must demonstrate the following clinical features (when age-appropriate):
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- Thrusting of legs in play
- Lifting of head
- Eyes follow moving person
- Smiles in response to speaker's attention
Who cannot join
- Any clinically significant neurocognitive deficit not attributable to Krabbe disease.
- An acute illness requiring hospitalization within 30 days of enrollment.
- History of chronic ventilation assisted respiratory support (defined as more than 12 hours/day of bilevel positive airway pressure, continuous positive airway pressure (CPAP) or ventilator) or a need for tracheostomy as a result of their disease. Note: This does not exclude patients who use respiratory vests.
- Intractable seizure or uncontrolled epilepsy defined as having had an episode of status epilepticus, or seizures requiring hospitalization.
- Family history of seizures or epilepsy of infantile or childhood onset, other than febrile seizures. This does not exclude subjects with a family history of Krabbe disease.
- Any contraindication to the ICM administration procedure, including contraindications to fluoroscopic imaging, intrathecal contrast and anesthesia or any condition that would increase the risk of adverse outcomes from the ICM procedure including, but not limited to, the presence of a space occupying lesion, aberrant vascular anatomy or congenital anatomical abnormalities such as a Chiari malformation.
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- Any contraindication to MRI or lumbar puncture (LP).
- Prior gene therapy.
- Enrollment in any other clinical study with an investigational product within 4 weeks prior to Screening or within 5 half-lives of the investigational product used in that clinical study, whichever is longer.
- Prior Hematopoietic Stem Cell Transplantation (HSCT)
- Receipt of a vaccine within 14 days prior to or after dosing.
- Estimated glomerular filtration rate (eGFR) <60 mL/minute/1.73 m2 based on creatinine
- Hematological abnormalities
- Coagulopathy (INR > 1.5) or activated partial thromboplastin time [aPTT] > 40 seconds
- WBC < 5.5 x 103 cells/ μL
- Hemoglobin <10 g/dL
- Thromobcytopenia (platelet count < 100,000 per μL.)
- AST or ALT > 3 times the upper limit of normal (ULN) or total bilirubin > 1.5x ULN
- Abnormal respiratory function
- Required suctioning in the absence of upper respiratory tract infection
- Hypoxemia (oxygen [O2] saturation awake less than 96% or O2 saturation asleep less than 96%, without ventilation support) as assessed during screening. Ventilatory support is defined as dependence on supplemental O2 or use of a ventilator or bilevel positive airway pressure (BiPap) or continuous positive airway pressure (Cpap) machine.
- Poor peripheral perfusion or temperature instability in the absence of intercurrent illness
- Medical conditions or laboratory or vital sign abnormalities that would increase risk of complications from intra-cisterna magna injection, anesthesia, fluoroscopy, LP, and/or MRI
- Any condition (e.g., history of any disease, evidence of any current disease, any finding upon physical examination, or any laboratory abnormality) that, in the opinion of the investigator, would put the subject at undue risk during the administration procedure or would interfere with evaluation of PBKR01 or interpretation of subject safety or study results.
Trial locations and contacts
9 sites in 6 countries.
9 sites in 6 countries
United States4 sites
Ann & Robert Lurie
Chicago, Illinois, 60611
New York-Presbyterian
New York, New York, 10065
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
University of Utah School of Medicine
Salt Lake City, Utah, 84132
About this study
Official title: A Phase 1/2 Open-Label, Multicenter Dose-Ranging and Confirmatory Study to Assess the Safety, Tolerability and Efficacy of PBKR03 Administered to Pediatric Subjects With Early Infantile Krabbe Disease (Globoid Cell Leukodystrophy)
PBKR03 is a gene therapy for Krabbe Disease (Globoid cell leukodystrophy) intended to deliver a functional copy of the GALC gene to the brain and peripheral tissues. This study will evaluate the safety, tolerability and efficacy of this treatment by first evaluating two different doses in two different age groups, then confirming the optimal dose to be used for confirmation of safety and efficacy.
Read the detailed description
PBKR03 is an adeno-associated viral vector serotype Hu68 carrying the gene encoding for human galactosylceramidase, GALC, formulated as a solution for injection into the cisterna magna.
This is a global interventional, multicenter, single-arm, dose escalation, study of PBKR03 delivered as a one-time dose administered into the cisterna magna of subjects with early infantile Krabbe Disease.
The dose-ranging portion of the study will enroll independent dose escalation cohorts in two age groups of subjects with early infantile Krabbe disease:
- Cohort 1: 3 subjects aged ≥4 to <9 months will receive the low dose (Dose I)
- Cohort 2: 3 subjects aged ≥4 to <9 months will receive the high dose (Dose II)
- Cohort 3: 3 subjects aged ≥1 to <4 months will receive the low dose (Dose I)
- Cohort 4: 3 subjects aged ≥1 to <4 months will receive the high dose (Dose II)
Part 1 of the study will enroll a total of four cohorts, enrolled sequentially with separate age-based dose-escalation cohorts. Enrollment will initiate in Cohort 1. Following completion of Cohort 1, simultaneous enrollment in Cohort 2 and Cohort 3 will occur. Cohort 4 will follow completion of cohort 3.
The confirmatory cohort, Part 2, will enroll subjects with early infantile Krabbe Disease, aged >1 to <9 months. These subjects will receive a dose chosen based on the data obtained in part 1 of the study This will be a 2-year study with a 3-year safety extension.
- Conditions
- Leukodystrophy, Globoid Cell
- Being tested
- PBKR03
- Keywords
- infantile, early infantile, Krabbe Disease, Rare disease, Leukodystrophy, GALC, Lysosomal storage disease
- Medical subject headings
- Leukodystrophy, Globoid Cell, Rare Diseases, Lysosomal Storage Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
PBKR03Biological
Single dose of PBKR03, via intra cisterna magna
| Study group | Role | What they receive |
|---|---|---|
| Part 1: Dose Escalation Cohorts designed to identify the optimal dose of PBKR03 | Experimental | Cohort 1: Subjects aged >4 to <9 months Drug: PBKR03 1.5 x 10^11 GC/g* Single dose of PBKR03, via intra cisterna magna
Cohort 2: Subjects aged >4 to <9 months Drug: PBKR03 5.0 x 10^11 GC/g* Single dose of PBKR03, via intra cisterna magna
Cohort 3: Subjects aged >1 to <4 months Drug: PBKR03 1.5 x 10^11 GC/g* Single dose of PBKR03, via intra cisterna magna
Cohort 4: Subjects aged >1 to <4 months Drug: PBKR03 5.0 x 10^11 GC/g* Single dose of PBKR03, via intra cisterna magna
*GC/g: genome copiesy per gram of estimated brain weight Receives: Biological: PBKR03 |
| Part 2: Expansion Cohort designed to confirm the safety and efficacy of PBKR03 | Experimental | Cohort 5: Subjects aged >1 to <9 months Drug: PBKR03 Single dose of PBKR03, via intra cisterna magna Dose to be used for the confirmatory cohorts in Part 2 will be defined after a review of data from Part 1.
*GC/g: genome copiesy per gram of estimated brain weight Receives: Biological: PBKR03 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of participants with treatment-related adverse events (AEs) and serious adverse events (SAEs) at Grade 3 or higher within 24 months of dosing
Assess the number of adverse events and serious adverse events at Grade 3 or higher as assessed by CTCAEv5.0
Measured: Up to 5 years (multiple visits)
Change from baseline in nerve conduction and velocity in motor nerve conduction studies
NCS will measure velocity and amplitude in distal segments of the median, peroneal and tibial motor nerves to evaluate effects on peripheral nerve integrity.
Measured: From baseline to 5 years (multiple visits)
Change from baseline in nerve conduction and velocity in sensory nerve conduction studies
NCS will measure velocity and amplitude in distal segments of the sural, radial and median sensory nerves to evaluate effects on peripheral nerve integrity
Measured: From baseline to 5 years (multiple visits)
Number of Participants with Clinically Significant Laboratory Abnormalities as Measured Using Hematology, Chemistry and Coagulation Tests
Assess the number of participants with clinically significant laboratory changes including hematology, serum chemistry, and coagulation tests
Measured: Up to 5 years (multiple visits)
Assess Humoral Response Against the Vector and Transgene in Serum
Assess serum antibody titers against AAVhu68 and against GALC following ICM administration of PBKR03
Measured: Up to 5 years (multiple visits)
Assess Humoral Response Against the Vector and Transgene in CSF
Assess antibody titers in the cerebrospinal fluid against AAVhu68 and against GALC following ICM administration of PBKR03
Measured: Up to 5 years (multiple visits)
Secondary outcomes (13)
Change from Baseline in Developmental Milestones as Assessed by the Bayley Scale of Infant and Toddler Development, Third Edition
Assess changes in the developmental age and the total number of developmental milestones using the Bayley Scale of Infant and Toddler Development, Third Edition instrument
Measured: From baseline to 2 years (multiple visits)
Change from Baseline in Developmental Milestones as Assessed by the Vineland Adaptive Behavior Scale-II
Assess changes in the developmental age and the total number of developmental milestones using the Vineland Adaptive Behavior Scale-II instrument
Measured: From baseline to 2 years (multiple visits)
Change in Biomarkers of GALC Activity in Blood
Assess change in biomarkers of GALC activity in blood when compared with baseline
Measured: From baseline to 2 years (multiple visits)
Change in Biomarkers of GALC Activity in CSF
Assess change in biomarkers of GALC activity when compared with baseline
Measured: From baseline to 2 years (multiple visits)
Change in Biomarkers of GALC Substrates in Blood
Assess change in concentration of GALC substrates in blood
Measured: From baseline to 2 years (multiple visits)
Change in Biomarkers of GALC Substrates in CSF
Assess change in concentration of GALC in CSF when compared with baseline
Measured: From baseline to 2 years (multiple visits)
Change in Concentration of Biomarker of Disease Progression in Plasma
Assess change in neurofilament light chain (NfL) concentration as a marker for neurodegeneration and disease progression in plasma
Measured: From baseline to 2 years (multiple visits)
Change in Concentration of Biomarker of Disease Progression in CSF
Assess change in neurofilament light chain concentration (NfL) as a marker for neurodegeneration and disease progression in CSF
Measured: From baseline to 2 years (multiple visits)
Change in Brain Anatomy as Assessed by MRI
Assess change in disease severity, volumetric MRI measures, brain diffusivity, and white matter lesions by MRI imaging
Measured: From baseline to 2 years (multiple visits)
Change in Quality of Life Using Pediatric Quality of Life Scale
Assess change in quality of life as measured by Pediatric Quality of Life Scale (Peds QL)
Measured: From baseline to 2 years (multiple visits)
Change in Quality of Life Using Pediatric Quality of Life Scales
Assess change in quality of life as measured by the Pediatric Quality of Life - Infant Scale (PedsQL-IS)
Measured: From baseline to 2 years (multiple visits)
Change in Ventilator-Free Survival Compared with Natural History Data
Assess change compared with natural history data in ventilator-free survival and chronic ventilatory support.
Measured: From baseline to 2 years (multiple visits)
Incidence of Feeding Tube Placement at or Before Month 24
Though speech and swallowing assessment, study participants will be evaluated to determine whether a feeding tube is warranted
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Feb 2021
- Study start24 Feb 2022
- Primary completionJan 2027 (estimated)
- Study completionJan 2030 (estimated)
Why it stopped: The study was stopped due to changes in the company strategy.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Leukodystrophy, Globoid CellStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Model description
- Open-label, multi-center, dose escalation
- Masking
- None (open label)
- Enrolment
- 24 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Gemma Biotherapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- May Orfali, MD, Study director, Gemma Biotherapeutics
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04771416
- Sponsor's protocol ID
- PBKR03-001
- Other IDs
- 2020-005229-95
- Acronym
- GALax-C
- Status last verified
- Nov 2025
- First submitted
- 23 Feb 2021
- Last updated
- 30 Jun 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Heller G, Bradbury AM, Sands MS, Bongarzone ER. Preclinical studies in Krabbe disease: A model for the investigation of novel combination therapies for lysosomal storage diseases. Mol Ther. 2023 Jan 4;31(1):7-23. doi: 10.1016/j.ymthe.2022.09.017. Epub 2022 Oct 4.
PubMed 36196048Hordeaux J, Jeffrey BA, Jian J, Choudhury GR, Michalson K, Mitchell TW, Buza EL, Chichester J, Dyer C, Bagel J, Vite CH, Bradbury AM, Wilson JM. Efficacy and Safety of a Krabbe Disease Gene Therapy. Hum Gene Ther. 2022 May;33(9-10):499-517. doi: 10.1089/hum.2021.245. Epub 2022 Mar 22.
PubMed 35333110
Study at a glance
From the registry record, last updated by the sponsor on 30 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase 1/2 Open-Label, Multicenter Dose-Ranging and Confirmatory Study to Assess the Safety, Tolerability and Efficacy of PBKR03 Administered to Pediatric Subjects With Early Infantile Krabbe Disease (Globoid Cell Leukodystrophy)
- ClinicalTrials.gov ID
- NCT04771416
- Acronym / sponsor ID
- GALax-C / PBKR03-001
- Conditions
- Leukodystrophy, Globoid Cell
- Keywords
- infantile, early infantile, Krabbe Disease, Rare disease, Leukodystrophy, GALC, Lysosomal storage disease
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- SuspendedReason stopped: The study was stopped due to changes in the company strategy.
- Enrolment
- 24 participants (estimated)
- Lead sponsor
- Gemma BiotherapeuticsIndustry (pharma, biotech, devices)
- Study start
- 24 Feb 2022 (actual)
- Primary completion
- Jan 2027 (estimated)
- Study completion
- Jan 2030 (estimated)
- First posted
- 25 Feb 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
PBKR03 is a gene therapy for Krabbe Disease (Globoid cell leukodystrophy) intended to deliver a functional copy of the GALC gene to the brain and peripheral tissues. This study will evaluate the safety, tolerability and efficacy of this treatment by first evaluating two different doses in two different age groups, then confirming the optimal dose to be used for confirmation of safety and efficacy.
Detailed description
PBKR03 is an adeno-associated viral vector serotype Hu68 carrying the gene encoding for human galactosylceramidase, GALC, formulated as a solution for injection into the cisterna magna.
This is a global interventional, multicenter, single-arm, dose escalation, study of PBKR03 delivered as a one-time dose administered into the cisterna magna of subjects with early infantile Krabbe Disease.
The dose-ranging portion of the study will enroll independent dose escalation cohorts in two age groups of subjects with early infantile Krabbe disease:
- Cohort 1: 3 subjects aged ≥4 to <9 months will receive the low dose (Dose I)
- Cohort 2: 3 subjects aged ≥4 to <9 months will receive the high dose (Dose II)
- Cohort 3: 3 subjects aged ≥1 to <4 months will receive the low dose (Dose I)
- Cohort 4: 3 subjects aged ≥1 to <4 months will receive the high dose (Dose II)
Part 1 of the study will enroll a total of four cohorts, enrolled sequentially with separate age-based dose-escalation cohorts. Enrollment will initiate in Cohort 1. Following completion of Cohort 1, simultaneous enrollment in Cohort 2 and Cohort 3 will occur. Cohort 4 will follow completion of cohort 3.
The confirmatory cohort, Part 2, will enroll subjects with early infantile Krabbe Disease, aged >1 to <9 months. These subjects will receive a dose chosen based on the data obtained in part 1 of the study This will be a 2-year study with a 3-year safety extension.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- Open-label, multi-center, dose escalation
| Arm | Type | Receives |
|---|---|---|
| Part 1: Dose Escalation Cohorts designed to identify the optimal dose of PBKR03 | Experimental | Biological: PBKR03Cohort 1: Subjects aged >4 to <9 months Drug: PBKR03 1.5 x 10^11 GC/g* Single dose of PBKR03, via intra cisterna magna Cohort 2: Subjects aged >4 to <9 months Drug: PBKR03 5.0 x 10^11 GC/g* Single dose of PBKR03, via intra cisterna magna Cohort 3: Subjects aged >1 to <4 months Drug: PBKR03 1.5 x 10^11 GC/g* Single dose of PBKR03, via intra cisterna magna Cohort 4: Subjects aged >1 to <4 months Drug: PBKR03 5.0 x 10^11 GC/g* Single dose of PBKR03, via intra cisterna magna *GC/g: genome copiesy per gram of estimated brain weight |
| Part 2: Expansion Cohort designed to confirm the safety and efficacy of PBKR03 | Experimental | Biological: PBKR03Cohort 5: Subjects aged >1 to <9 months Drug: PBKR03 Single dose of PBKR03, via intra cisterna magna Dose to be used for the confirmatory cohorts in Part 2 will be defined after a review of data from Part 1. *GC/g: genome copiesy per gram of estimated brain weight |
Who may qualify
- Ages
- 1 month to 9 months
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (10 listed)
- > 1 month and < 9 months of age at enrollment, either presymptomatic or symptomatic with first symptoms of Krabbe Disease at < 6 months of age
- Leukocyte GALC activity below lower limit of normal (LLN)
- Whole blood psychosine > 10 nM
- Biallelic pathogenic GALC gene variants previously associated with early infantile Krabbe Disease or variants classified as likely pathogenic
- Parents or the subject's legally authorized representative provide written informed consent prior to any study-related procedures, including screening evaluations
Key exclusion criteria (24 listed)
- Any clinically significant neurocognitive deficit not attributable to Krabbe disease.
- An acute illness requiring hospitalization within 30 days of enrollment.
- History of chronic ventilation assisted respiratory support (defined as more than 12 hours/day of bilevel positive airway pressure, continuous positive airway pressure (CPAP) or ventilator) or a need for tracheostomy as a result of their disease. Note: This does not exclude patients who use respiratory vests.
- Intractable seizure or uncontrolled epilepsy defined as having had an episode of status epilepticus, or seizures requiring hospitalization.
- Family history of seizures or epilepsy of infantile or childhood onset, other than febrile seizures. This does not exclude subjects with a family history of Krabbe disease.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| PBKR03Single dose of PBKR03, via intra cisterna magna | Biological | Part 1: Dose Escalation Cohorts designed to identify the optimal dose of PBKR03, Part 2: Expansion Cohort designed to confirm the safety and efficacy of PBKR03 |
Primary outcome
Number of participants with treatment-related adverse events (AEs) and serious adverse events (SAEs) at Grade 3 or higher within 24 months of dosing
Time frame: Up to 5 years (multiple visits)
Assess the number of adverse events and serious adverse events at Grade 3 or higher as assessed by CTCAEv5.0
Change from baseline in nerve conduction and velocity in motor nerve conduction studies
Time frame: From baseline to 5 years (multiple visits)
NCS will measure velocity and amplitude in distal segments of the median, peroneal and tibial motor nerves to evaluate effects on peripheral nerve integrity.
Change from baseline in nerve conduction and velocity in sensory nerve conduction studies
Time frame: From baseline to 5 years (multiple visits)
NCS will measure velocity and amplitude in distal segments of the sural, radial and median sensory nerves to evaluate effects on peripheral nerve integrity
Number of Participants with Clinically Significant Laboratory Abnormalities as Measured Using Hematology, Chemistry and Coagulation Tests
Time frame: Up to 5 years (multiple visits)
Assess the number of participants with clinically significant laboratory changes including hematology, serum chemistry, and coagulation tests
Assess Humoral Response Against the Vector and Transgene in Serum
Time frame: Up to 5 years (multiple visits)
Assess serum antibody titers against AAVhu68 and against GALC following ICM administration of PBKR03
Assess Humoral Response Against the Vector and Transgene in CSF
Time frame: Up to 5 years (multiple visits)
Assess antibody titers in the cerebrospinal fluid against AAVhu68 and against GALC following ICM administration of PBKR03
13 secondary outcomes
Change from Baseline in Developmental Milestones as Assessed by the Bayley Scale of Infant and Toddler Development, Third Edition
Time frame: From baseline to 2 years (multiple visits)
Change from Baseline in Developmental Milestones as Assessed by the Vineland Adaptive Behavior Scale-II
Time frame: From baseline to 2 years (multiple visits)
Change in Biomarkers of GALC Activity in Blood
Time frame: From baseline to 2 years (multiple visits)
Change in Biomarkers of GALC Activity in CSF
Time frame: From baseline to 2 years (multiple visits)
Change in Biomarkers of GALC Substrates in Blood
Time frame: From baseline to 2 years (multiple visits)
Change in Biomarkers of GALC Substrates in CSF
Time frame: From baseline to 2 years (multiple visits)
Change in Concentration of Biomarker of Disease Progression in Plasma
Time frame: From baseline to 2 years (multiple visits)
Change in Concentration of Biomarker of Disease Progression in CSF
Time frame: From baseline to 2 years (multiple visits)
Change in Brain Anatomy as Assessed by MRI
Time frame: From baseline to 2 years (multiple visits)
Change in Quality of Life Using Pediatric Quality of Life Scale
Time frame: From baseline to 2 years (multiple visits)
Change in Quality of Life Using Pediatric Quality of Life Scales
Time frame: From baseline to 2 years (multiple visits)
Change in Ventilator-Free Survival Compared with Natural History Data
Time frame: From baseline to 2 years (multiple visits)
Incidence of Feeding Tube Placement at or Before Month 24
Time frame: 24 months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Jun 2026.
- Derived from this study: PubMed 36196048Heller G, Bradbury AM, Sands MS, Bongarzone ER. Preclinical studies in Krabbe disease: A model for the investigation of novel combination therapies for lysosomal storage diseases. Mol Ther. 2023 Jan 4;31(1):7-23. doi: 10.1016/j.ymthe.2022.09.017. Epub 2022 Oct 4.
- Derived from this study: PubMed 35333110Hordeaux J, Jeffrey BA, Jian J, Choudhury GR, Michalson K, Mitchell TW, Buza EL, Chichester J, Dyer C, Bagel J, Vite CH, Bradbury AM, Wilson JM. Efficacy and Safety of a Krabbe Disease Gene Therapy. Hum Gene Ther. 2022 May;33(9-10):499-517. doi: 10.1089/hum.2021.245. Epub 2022 Mar 22.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
May Orfali, MD study director
Gemma Biotherapeutics
9 sites in 6 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing PBKR03 in people with Leukodystrophy, Globoid Cell, run by Gemma Biotherapeutics at 9 sites in 6 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 10 inclusion and 24 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: paused, as of the sponsor's last update on 30 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 9 sites in United States, Brazil, Canada, Israel, Netherlands and 1 more country. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of participants with treatment-related adverse events (AEs) and serious adverse events (SAEs) at Grade 3 or higher within 24 months of dosing (time frame: Up to 5 years (multiple visits)). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04771416, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Jun 2026.