AdrenoleukodystrophyPhase 1DUOC-01NCT02254863
UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
A Phase 1 study testing DUOC-01 in people with Adrenoleukodystrophy and Batten Disease, run by Joanne Kurtzberg, MD at 1 site in United States.
Trial summary
The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 in patients who are undergoing standard treatment with umbilical cord blood transplant (UCBT) for inborn errors of metabolism and who have evidence of early demyelinating disease in the central… Read more about this study
- Who is it for?
- Ages 1 week to 22 years
- Conditions the study is for
- Adrenoleukodystrophy, Batten Disease, Mucopolysaccharidosis II
- What is being tested?
- DUOC-01
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 40 participants
- Where
- 1 siteUnited States
- Study dates
- Sep 2014to Oct 2027
- Phase
- Phase 1
- Are there results?
- Not yet: the study is under way
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 week to 22 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Patients must be age ≥1 week to ≤21 years.
- Patients must have one of the following inherited metabolic diseases detected by enzyme or mutation analysis, and confirmed by repeat testing on a separately obtained sample:
- Adrenoleukodystrophy (ALD) Batten Disease Hunter Syndrome (MPS II) Krabbe disease (Globoid Leukodystrophy) Metachromatic Leukodystrophy (MLD) Niemann Pick disease type A or B Pelizaeus-Merzbacher disease (PMD) Sandhoff disease Tay Sachs disease. Alpha Mannosidosis Sanfilippo (MPS III)
- Patients must have neurologic evidence of their disease, either clinically or via neuroimaging or neurophysiological testing. Examples of evidence of neurologic involvement include, but are not limited to the following:
- Abnormal EEG, Brainstem Auditory Evoked Response (BAER), and/or Visual Evoked Potentials (VEP).
- Abnormal brain MRI, ie. increased Loes score (measure of white matter damage, demyelination, and brain atrophy) and/or abnormal corticospinal tracts as assessed by MRI with diffusion tensor imaging (DTI).
Show all 16Show fewer
- Three or more of the early clinical markers: problems sleeping, increased activity, behavior difficulties, seizure-like activity, chewing behavior, inappropriate bladder training, inappropriate bowel training.
- Patients must have adequate organ function as measured by:
- Renal: Serum creatinine ≤ 2.0 mg/dl
- Hepatic: Hepatic transaminases (ALT/AST) ≤ 5 x normal, bilirubin ≤ 2.0 mg/dl (except in patients with Gilbert's disease or newborns with physiological or breast milk associated jaundice).
- Cardiac: Normal cardiac function by echocardiogram or radionuclide scan (shortening fraction or ejection fraction
- 80% of normal value for age). Patients with acquired or congenital cardiomyopathy may receive melphalan as a substitute for cyclophosphamide.
- Pulmonary: Pulmonary function tests demonstrating FVC, FEV1, and DLCO ≥ 60% of predicted in patients who can complete the testing. If patient cannot perform PFT's, an O2 sat must be >90% on room air.
- Patients must have an available, suitably matched, banked UCB unit for transplant.
- Patients must have a performance status as follows: Lansky ≥ 40%, or Karnofsky ≥ 40%
- Patients must have a life expectancy of ≥ 6 months.
Who cannot join
- Prior organ, tissue, or stem cell transplant within 3 years of study entry.
- Prior participation in any gene or regenerative cell therapy study.
- Inability to have an MRI scan or lumbar puncture.
- Intractable seizures.
- Chronic aspiration.
- Bleeding disorder.
Show all 12Show fewer
- Evidence of HIV infection or HIV positive serology.
- Uncontrolled bacterial, viral, or fungal infection at the time of pre-UCBT cytoreduction.
- Inability to obtain patient's, parent's or legal guardian's consent.
- Requirement of ventilatory support.
- Pregnant or breastfeeding.
- Active concurrent malignancy, or receiving concurrent radiotherapy, immunosuppressive medications, or cytotoxic chemotherapy
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Sydney Crane, RN contact
Erin Arbuckle contact
United States1 site, 1 recruiting
- Recruiting
Duke University Medical Center
Durham, North Carolina, 27705
Sydney Crane, RN, cordbloodtherapyinfo@dm.duke.edu
Joanne Kurtzberg, MD
About this study
Official title: Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells
The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 in patients who are undergoing standard treatment with umbilical cord blood transplant (UCBT) for inborn errors of metabolism and who have evidence of early demyelinating disease in the central nervous system (CNS). The secondary objective of the study is to describe the efficacy of UCBT with intrathecal administration of DUOC-01 in these patients.
Read the detailed description
The inherited metabolic disorders (IMD) are a group of genetic diseases, most of which involve a single gene mutation, resulting in an enzyme defect. In the majority of cases, the enzyme defect leads to the buildup of substances that are toxic and/or interfere with normal cellular function. Often times, patients may appear normal at birth but during infancy begin to exhibit disease symptoms, frequently including progressive neurological deterioration due to absent or abnormal brain myelination. The ultimate result is death in later infancy or childhood.
Currently, the only effective therapy to slow or halt this neurologic decline is allogeneic hematopoietic stem cell transplantation (HSCT). The engraftment of donor cells in a patient with an IMD provides a constant source of enzyme replacement, thereby slowing or halting the progression of disease. However, one barrier to the success of HSCT is the slower engraftment of donor cells in the central nervous system (CNS), which is associated with ongoing disease progression over 2-4 months before stabilization.
This study will evaluate the safety of an additional cell therapy for patients who are receiving HSCT using umbilical cord blood (UCB) cells from an allogeneic (non-self) donor for treatment of an IMD that is known to benefit from HSCT. The additional cell therapy, UCB-derived oligodendrocyte-like cells (DUOC-01), will serve as a supplementary therapy to a standard UCB transplant. DUOC-01 is administered intrathecally (injected into the spinal fluid) after transplant. The goal of this therapy is to accelerate delivery of donor cells to the CNS, thereby bridging the gap between the time from UCB transplant to engraftment of the UCB cells in the CNS, with the goal of preventing disease progression.
This study is only performed at Duke University Medical Center and only patients who are medically eligible for a UCB transplant will be enrolled.
- Conditions
- Adrenoleukodystrophy, Batten Disease, Mucopolysaccharidosis II, Leukodystrophy, Globoid Cell, Leukodystrophy, Metachromatic, Neimann Pick Disease
- Being tested
- DUOC-01
- Keywords
- Adrenoleukodystrophy, Batten Disease, Hunter Syndrome, Krabbe, Metachromatic Leukodystrophy, ALD, MLD, PMD
- Medical subject headings
- Adrenoleukodystrophy, Neuronal Ceroid-Lipofuscinoses, Mucopolysaccharidosis II, Leukodystrophy, Globoid Cell, Leukodystrophy, Metachromatic, Niemann-Pick Disease, Type A, Pelizaeus-Merzbacher Disease, Sandhoff Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
DUOC-01Biological
Intrathecal administration of DUOC-01
| Study group | Role | What they receive |
|---|---|---|
| Intrathecal administration of DUOC-01 | Experimental | Administration of DUOC-01, given intrathecally, between day 26 and 28 post unrelated cord blood transplant Receives: Biological: DUOC-01 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluate for Infusional Toxicity
Will monitor for fever, vomiting, neck stiffness, seizures, changes in state of consciousness
Measured: 24 hours after infusion
Evaluate for Neuro Toxicity
Perform computerized tomography (CT) scan to evaluate for bleeding, tumor formation, central nervous system generalized infiltration
Measured: 1 month after infusion
Secondary outcomes (1)
Efficacy determination
Perform standard of care follow-up evaluations to include brain magnetic resonance imaging (MRI) with diffuse tensor imaging (DTI), Electroencephalography (EEG), nerve conduction, brainstem auditory evoked response (BAER), visual evoked potential (VEP) and neurocognitive testing. Bench mark results against historical controls previously transplanted by our institution for the past 20 years.
Measured: 1-5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Oct 2014 (estimated)
- Study startSep 2014
- Primary completionOct 2027 (estimated)
- Study completionOct 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for AdrenoleukodystrophyStudies 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
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Joanne Kurtzberg, MD
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Joanne Kurtzberg, MD, Duke University
- Investigators
- Joanne Kurtzberg, MD, Principal investigator, Duke University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02254863
- Sponsor's protocol ID
- Pro00050198
- Acronym
- DUOC-01
- Status last verified
- Sep 2026
- First submitted
- 23 Sep 2014
- Last updated
- 3 Sep 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 3 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells
- ClinicalTrials.gov ID
- NCT02254863
- Acronym / sponsor ID
- DUOC-01 / Pro00050198
- Conditions
- Adrenoleukodystrophy, Batten Disease, Mucopolysaccharidosis II, Leukodystrophy, Globoid Cell, Leukodystrophy, Metachromatic, Neimann Pick Disease
- Keywords
- Adrenoleukodystrophy, Batten Disease, Hunter Syndrome, Krabbe, Metachromatic Leukodystrophy, ALD, MLD, PMD
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- Joanne Kurtzberg, MDUniversity, hospital or other
- Study start
- Sep 2014
- Primary completion
- Oct 2027 (estimated)
- Study completion
- Oct 2027 (estimated)
- First posted
- 2 Oct 2014 (estimated)
- 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.
The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 in patients who are undergoing standard treatment with umbilical cord blood transplant (UCBT) for inborn errors of metabolism and who have evidence of early demyelinating disease in the central nervous system (CNS). The secondary objective of the study is to describe the efficacy of UCBT with intrathecal administration of DUOC-01 in these patients.
Detailed description
The inherited metabolic disorders (IMD) are a group of genetic diseases, most of which involve a single gene mutation, resulting in an enzyme defect. In the majority of cases, the enzyme defect leads to the buildup of substances that are toxic and/or interfere with normal cellular function. Often times, patients may appear normal at birth but during infancy begin to exhibit disease symptoms, frequently including progressive neurological deterioration due to absent or abnormal brain myelination. The ultimate result is death in later infancy or childhood.
Currently, the only effective therapy to slow or halt this neurologic decline is allogeneic hematopoietic stem cell transplantation (HSCT). The engraftment of donor cells in a patient with an IMD provides a constant source of enzyme replacement, thereby slowing or halting the progression of disease. However, one barrier to the success of HSCT is the slower engraftment of donor cells in the central nervous system (CNS), which is associated with ongoing disease progression over 2-4 months before stabilization.
This study will evaluate the safety of an additional cell therapy for patients who are receiving HSCT using umbilical cord blood (UCB) cells from an allogeneic (non-self) donor for treatment of an IMD that is known to benefit from HSCT. The additional cell therapy, UCB-derived oligodendrocyte-like cells (DUOC-01), will serve as a supplementary therapy to a standard UCB transplant. DUOC-01 is administered intrathecally (injected into the spinal fluid) after transplant. The goal of this therapy is to accelerate delivery of donor cells to the CNS, thereby bridging the gap between the time from UCB transplant to engraftment of the UCB cells in the CNS, with the goal of preventing disease progression.
This study is only performed at Duke University Medical Center and only patients who are medically eligible for a UCB transplant will be enrolled.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Intrathecal administration of DUOC-01 | Experimental | Biological: DUOC-01Administration of DUOC-01, given intrathecally, between day 26 and 28 post unrelated cord blood transplant |
Who may qualify
- Ages
- 1 week to 22 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (16 listed)
- Patients must be age ≥1 week to ≤21 years.
- Patients must have one of the following inherited metabolic diseases detected by enzyme or mutation analysis, and confirmed by repeat testing on a separately obtained sample:
- Adrenoleukodystrophy (ALD) Batten Disease Hunter Syndrome (MPS II) Krabbe disease (Globoid Leukodystrophy) Metachromatic Leukodystrophy (MLD) Niemann Pick disease type A or B Pelizaeus-Merzbacher disease (PMD) Sandhoff disease Tay Sachs disease. Alpha Mannosidosis Sanfilippo (MPS III)
- Patients must have neurologic evidence of their disease, either clinically or via neuroimaging or neurophysiological testing. Examples of evidence of neurologic involvement include, but are not limited to the following:
- Patients must have adequate organ function as measured by:
Key exclusion criteria (12 listed)
- Prior organ, tissue, or stem cell transplant within 3 years of study entry.
- Prior participation in any gene or regenerative cell therapy study.
- Inability to have an MRI scan or lumbar puncture.
- Intractable seizures.
- Chronic aspiration.
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 |
|---|---|---|
| DUOC-01Intrathecal administration of DUOC-01 | Biological | Intrathecal administration of DUOC-01 |
Primary outcome
Evaluate for Infusional Toxicity
Time frame: 24 hours after infusion
Will monitor for fever, vomiting, neck stiffness, seizures, changes in state of consciousness
Evaluate for Neuro Toxicity
Time frame: 1 month after infusion
Perform computerized tomography (CT) scan to evaluate for bleeding, tumor formation, central nervous system generalized infiltration
1 secondary outcome
Efficacy determination
Time frame: 1-5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Sep 2026.
Related trials for Adrenoleukodystrophy
RecruitingObservational study
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
Inherited Disease, Rare Diseases
RecruitingObservational study
Adrenal Diseases in the Population of Modena: A Clinical-Epidemiological Database of Patients Referred to the Adrenal Disorders Outpatient Clinic of the Clinical Unit of Endocrinology at the Modena University Hospital (AOU Modena)
Cushing s Syndrome, Cushing Disease
Active, not recruitingPhase 2
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
Mucopolysaccharidosis Disorders, Hurler Syndrome
Not yet recruiting
IT and IV Lentiviral Gene Therapy for X-ALD
X-linked Adrenoleukodystrophy
Recruiting
Home Exercise for Individuals With Neurodegenerative Disease
Neurodegenerative Diseases, Leukodystrophy
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.
Sydney Crane, RN contact
Erin Arbuckle contact
Joanne Kurtzberg, MD principal investigator
Duke University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing DUOC-01 in people with Adrenoleukodystrophy and Batten Disease, run by Joanne Kurtzberg, MD at 1 site in United States.
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 16 inclusion and 12 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: looking for participants now, as of the sponsor's last update on 3 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. 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 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.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Sydney Crane, RN (cordbloodtherapyinfo@dm.duke.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Evaluate for Infusional Toxicity (time frame: 24 hours after infusion). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 3 Sep 2026.