Lysosomal Storage DiseasePhase 2NCT03392987

A Safety and Efficacy Study of Cryopreserved OTL-200 for Treatment of Metachromatic Leukodystrophy (MLD)

A Phase 2 study testing OTL-200 in people with Lysosomal Storage Disease and Metachromatic Leukodystrophy, run by Orchard Therapeutics at 1 site in Italy.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record

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Trial summary

Who is it for?: Ages Up to 6 years
Conditions the study is for: Lysosomal Storage Disease, Metachromatic Leukodystrophy
What is being tested?: OTL-200
Type of treatment: Injection or infusion
Could I receive a placebo?: No, everyone receives an active treatment
How many people: 10 participants
Where: 1 siteItaly
Study dates: 25 Jan 2018to 10 Mar 2026
Phase: Phase 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 Up to 6 years
All sexes
No healthy volunteers
Child

Who may be able to join

Documented biochemical and molecular diagnosis of MLD, based on ARSA activity below the normal range and identification of two disease-causing ARSA alleles, either known or novel mutations. Novel mutations will be analyzed with in silico prediction tools and excluded from being known common polymorphisms. In the case of a novel mutation(s), a 24-hour urine collection must show elevated sulfatide levels.
Eligible subjects must have EITHER
an older sibling affected by MLD (index case), whose age of symptom onset was <=6 years of age (i.e., had not celebrated 7th birthday). Subjects will be classified as LI, EJ or intermediate LI/EJ based on age of symptom onset in the index case and their ARSA genotype; LI: symptom onset in index case <=30 months of age and genotype typically 0/0; EJ: symptom onset in index case >30 months and <= 6 years of age with genotype typically 0/R; Intermediate LI/EJ: symptom onset in index case <= 6 years of age but unable to unambiguously characterize index case as LI or EJ OR
if MLD is diagnosed in a pre-symptomatic child without an older affected sibling, (e.g.) incidentally or via newborn screening) and the totality of the data available to the investigator strongly suggest that the subject has an early onset variant of MLD likely to benefit from gene therapy, and the subject is <=6 years of age (i.e., has not celebrated 7th birthday), the subject may be considered eligible after discussion and approval by the Orchard medical monitor.
Parental/guardian signed and dated informed consent.

Who cannot join

If LI MLD variant, clinical manifestations of the disease defined as EITHER of the following:
delay in expected achievement of independent standing or independent walking, together with abnormal signs at neurological evaluation
Or documented neurological signs and symptoms of MLD associated with cognitive, motor, or behavioural functional impairment or regression (substantiated by neurological examination and/or neuropsychological tests appropriate for age).
If EJ MLD variant, symptoms of MLD resulting in the loss of capacity of walking independently as defined by a GMFC level ≥2 or symptoms consistent with cognitive impairment as defined by an IQ<85 using age-appropriate neurocognitive instruments.
NOTE: The following will not be exclusionary if present alone:
Seizures

Show all 20Show fewer

Signs of the disease revealed at instrumental evaluations (Electroneurography [ENG] and brain MR)
Documented HIV infection (positive HIV RNA and/or anti-p24 antibodies).
Malignant neoplasia (except local skin cancer) or a documented history of hereditary cancer syndrome. Subjects with a prior successfully treated malignancy and a sufficient follow-up to exclude recurrence (based on oncologist opinion) can be included after discussion and approval by the Medical monitor.
Myelodysplasia, cytogenetic alterations characteristic of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), or other serious hematological disorders.
Subjects currently enrolled in other interventional trials.
Has previously undergone allogeneic hematopoietic stem cell transplantation and has evidence of residual cells of donor origin.
Previous gene therapy.
Has symptomatic herpes zoster, not responsive to specific treatment. Subjects with a recent history of herpes zoster may be included in the study. In such cases, inclusion, additional monitoring and treatment of the condition must be discussed and approved by the medical monitor.
Evidence of active tuberculosis (TB) based upon medical examination, chest imaging and TB testing i.e. QuantiFERON-TB Gold test and microbiological evidence. Subjects with latent tuberculosis, as documented by medical history and/or TB testing may be included in the study if receiving antibiotic prophylaxis (e.g. isoniazid). Inclusion, monitoring and treatment of TB in such subjects must be discussed and approved by the medical monitor.
Acute or chronic stable Hepatitis B as evidenced by positive Hepatitis B surface antigen (HBsAg) test result at screening or within 3 months prior to onset of conditioning and/or positive hepatitis B virus (HBV) DNA. Subjects with positive Hepatitis B core antibody due to prior resolved disease may be enrolled, only if a confirmatory negative Hepatitis B surface antigen and negative Hepatitis B DNA test are obtained. Inclusion, monitoring and treatment of hepatitis in such subjects must be discussed and approved by the medical monitor.
Presence of positive Hepatitis C RNA test result at screening; subjects who have previously tested positive for antibodies against hepatitis C can be treated, provided they demonstrate absence of ongoing infection using a nucleic acid test with a limit of quantification of <=15 international units/milliliter (IU/mL). Negative test results are required on at least 3 sequential occasions over a period of at least 4 weeks, after completion of treatment for hepatitis C, with the final test conducted no more than 3 days prior to cell harvest. Inclusion, monitoring and treatment of hepatitis in such subjects must be discussed and approved by the medical monitor.
End-organ dysfunction, severe active infection not responsive to treatment, or other severe disease or clinical condition which, in the judgment of the investigator, would make the subject inappropriate for entry into this study. In addition to the potential infections the PI should consider testing for other transmissible infectious agents listed in the European Union (EU) Cell and Tissue Directive as clinically appropriate and results discussed with the medical monitor prior to cell harvest.
Subjects with alanine transferase (ALT) >2x upper limit of normal (ULN) or total bilirubin >1.5xULN may be included only after discussed and agreed with the medical monitor and considered in the context of the criterion for excluding subjects with other severe disease.
Isolated elevation of total bilirubin >1.5xULN is acceptable if bilirubin is fractionated and direct bilirubin <35 percent of total.

Trial locations and contacts

1 site in 1 country.

Italy1 site

Ospedale San Raffaele - Telethon Institute for Gene Therapy (OSR-TIGET)
Milan, 20132

Other trials in Italy

About this study

Official title: A Single Arm, Open Label, Clinical Study of Cryopreserved Autologous CD34+ Cells Transduced With Lentiviral Vector Containing Human ARSA cDNA (OTL-200), for the Treatment of Early Onset Metachromatic Leukodystrophy (MLD)

OTL-200 is autologous CD34+ cells transduced with lentiviral vector containing human arylsulfatase A (ARSA) complementary deoxyribonucleic acid (cDNA) used for the treatment of MLD. MLD is an autosomal recessive lysosomal storage disorder (LSD) characterized by severe and progressive demyelination affecting the central and peripheral nervous system. This study will assess safety and efficacy of treatment using cryopreserved formulation of OTL-200 in pediatric subjects with pre-symptomatic Early Onset MLD (Late Infantile (LI) to Early Juvenile (EJ) MLD) and early symptomatic EJ MLD.

Conditions: Lysosomal Storage Disease, Metachromatic Leukodystrophy
Being tested: OTL-200
Keywords: OTL-200, Cryopreserved formulation, Gene therapy, Metachromatic leukodystrophy, MLD, Previously GSK2696274
Medical subject headings: Lysosomal Storage Diseases, Leukodystrophy, Metachromatic

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

OTL-200Genetic
Also called Previously GSK2696274
OTL-200 is an autologous CD34+ enriched cell fraction that contains CD34+ cells transduced with lentiviral vector that encodes for the human ARSA cDNA sequence

Study groups in NCT03392987
Study group	Role	What they receive
OTL-200 gene therapy	Experimental	Eligible subjects will receive intravenous (IV) infusion of OTL-200 gene therapy. Subjects will also receive conditioning regimen with busulfan. Receives: Genetic: OTL-200

What is being measured

The primary outcome is the main question the study is designed to answer.

Change in Gross Motor Function Measure (GMFM) score
GMFM will evaluate subject's ability to perform specific tasks in different positions. The scoring range is between 100 percent and 0 percent, with 0 percent corresponding to loss of all voluntary movement.
Measured: At 24 months post gene-therapy

Secondary outcomes (18)

Change in Gross Motor Function Measure (GMFM) score
GMFM will evaluate subject's ability to perform specific tasks in different positions. The scoring range is between 100 percent and 0 percent, with 0 percent corresponding to loss of all voluntary movement.
Measured: At 24 months and multiple visits up to 5 years post-gene therapy
Change in Gross Motor Function Classification (GMFC)-MLD score
GMFC-MLD will evaluate the change in motor function according to seven clinically relevant levels of walking, sitting, locomotion, trunk and head control. The scoring range is from 0 (walking without support with quality of performance normal for age) to 6 (loss of any locomotion as well as loss of any head and trunk control).
Measured: At 24 months and multiple visits up to 5 years post-gene therapy
Change in neurological examinations
Neurological examinations will be performed to identify any signs and symptoms of MLD disease.
Measured: At 24 months and multiple visits up to 5 years post-gene therapy
Change in Nerve Conduction Velocity (NCV)
NCV will be assessed by electroneurography which is a technique used to test and quantify the nerve conduction and impulse propagation along motor and sensory peripheral nerves.
Measured: At 24 months and multiple visits up to 5 years post-gene therapy
Change in total score for brain magnetic resonance (MR) imaging
Brain MR will be assessed using modified Loes score where normal brain has a score of zero and increasing score reflects worsening disease and demyelination.
Measured: At 24 months and multiple visits up to 5 years post-gene therapy
Change in neurocognitive function (Intelligence Quotient [IQ])
Standardized, age-appropriate IQ tests will be administered.
Measured: At 24 months and multiple visits up to 5 years post-gene therapy
Engraftment measured by percent Lentiviral (LV) positive clonogenic progenitors in bone marrow
Engraftment of transduced cells will be determined by measuring the percentage of hematopoietic colony-forming cells harboring the integrated vector by quantitative polymerase chain reaction (qPCR).
Measured: At Day 30 and multiple visits up to 5 years post-gene therapy
Vector copy number (VCN) level in bone marrow mononuclear cells
Engraftment of transduced cells will be determined by measuring the VCN per genome in bone marrow-derived cells.
Measured: At Day 30 and multiple visits up to 5 years post-gene therapy
VCN level in peripheral blood mononuclear cell (PBMCs)
Engraftment of transduced cells will be determined by measuring the VCN per genome in PBMCs.
Measured: At Day 60 and multiple visits up to 5 years post-gene therapy
Change in Arylsulfatase A (ARSA) activity in total PBMCs
Measured to assess the pharmacodynamic activity of OTL-200 in circulating total PBMCs post-treatment.
Measured: At Day 60 and multiple visits up to 5 years post-gene therapy
Change in ARSA activity in PB CD15+ cells
Measured to assess the pharmacodynamic activity of OTL-200 in circulating CD15+ cells post-treatment.
Measured: At Day 60 and multiple visits up to 5 years post-gene therapy
Change in ARSA activity in PB CD14+ cells
Measured to assess the pharmacodynamic activity of OTL-200 in circulating CD14+ cells post-treatment.
Measured: At Day 60 and multiple visits up to 5 years post-gene therapy
Change in ARSA activity in cerebrospinal fluid (CSF)
Measured to assess the pharmacodynamic activity of OTL-200 in the Central Nervous System (CNS) post-treatment.
Measured: At Day 90 and multiple visits up to 5 years post-gene therapy
Safety and tolerability as measured by recording of adverse events (AEs), including conditioning regimen related toxicity and AEs, and non-conditioning related AEs
An AE is any untoward medical occurrence in a clinical study subjects, temporally associated with the use of a study treatment, whether or not considered related to the study treatment. Any untoward event resulting in death, life threatening, requires hospitalization or prolongation of existing hospitalization, results in disability/incapacity, congenital anomaly/birth defect or any other situation according to medical or scientific judgment will be categorized as an serious adverse event (SAE).
Measured: Up to 5 years post-gene therapy
Safety and tolerability as measured by number of subjects not achieving hematological recovery (i.e., engraftment failure)
Hematological recovery will be defined as reconstitution of absolute neutrophil count (ANC ) > 500 neutrophils per microliter, associated with evidence of bone marrow recovery by Day 60.
Measured: By Day 60 post-gene therapy
Safety and tolerability as measured by incidences and titers of anti-ARSA antibodies
Serum samples will be collected for anti-ARSA antibody analysis.
Measured: Up to 5 years post-gene therapy
Safety and tolerability as measured by absence of abnormal clonal proliferation (ACP)
Malignancy or ACP due to insertional oncogenesis will be evaluated using different tests and procedures.
Measured: Up to 5 years post gene-therapy
Safety and tolerability as measured by absence of replication competent lentivirus (RCL)
Molecular monitoring of RCL will be carried out using an enzyme-linked immunosorbent assay (ELISA) test for serum human immunodeficiency virus (HIV) p24 antigen. A positive HIV p24 test result is subject to second level testing including: a) DNA PCR for vesicular stomatitis virus G (VSV-G) envelope (PBMC), and b) reverse transcription (RT)-PCR for serum HIV-pol ribonucleic acid (RNA) (plasma).
Measured: baseline, 1, 3, 6, and 12 months, then once a year up to 5 years post gene-therapy

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

25 Jan 201810 Mar 2026

First posted8 Jan 2018
Study start25 Jan 2018
Primary completion6 Apr 2022
Study completion10 Mar 2026

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Publications (1)Papers the sponsor has linked to this study.
Other trials for Lysosomal Storage DiseaseStudies 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 2
Primary purpose: Treatment
Allocation: Not applicable
Intervention model: Single group
Model description: This will be a single arm study. All subjects will receive OTL-200 gene therapy and will be followed up for 5 years post-gene therapy.
Masking: None (open label)
Enrolment: 10 participants (actual)

IDs, dates and publications

ClinicalTrials.gov ID: NCT03392987
Sponsor's protocol ID: 205756
Other IDs: 2017-001730-26, 2017
Status last verified: Jan 2025
First submitted: 12 Dec 2017
Last updated: 16 Mar 2026
Results posted: No
Data monitoring committee: No
FDA-regulated drug: No
FDA-regulated device: No

Publications

Fumagalli F, Calbi V, Gallo V, Zambon AA, Recupero S, Ciotti F, Sarzana M, Fraschini M, Scarparo S, De Mattia F, Miglietta S, Pierini C, Soncini M, Morena F, Montini E, Barzaghi F, Consiglieri G, Ferrua F, Migliavacca M, Tucci F, Fratini ES, Ippolito A, Silvani P, Calvi MR, Clerici A, Corti A, Facchini M, Locatelli S, Sangalli M, Zancan S, Miotto F, Natali Sora MG, Baldoli C, Martino S, Cordoba-Claros A, Moro SL, Gollop ND, Abate J, Yarzi MN, Nutkins P, Shenker A, Calissano M, Brooks J, Richardson A, Campbell L, Filippi M, Naldini L, Cicalese MP, Ciceri F, Bernardo ME, Aiuti A. Long-Term Effects of Atidarsagene Autotemcel for Metachromatic Leukodystrophy. N Engl J Med. 2025 Apr 24;392(16):1609-1620. doi: 10.1056/NEJMoa2405727.
PubMed 40267426

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

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Study at a glance

From the registry record, last updated by the sponsor on 16 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: A Single Arm, Open Label, Clinical Study of Cryopreserved Autologous CD34+ Cells Transduced With Lentiviral Vector Containing Human ARSA cDNA (OTL-200), for the Treatment of Early Onset Metachromatic Leukodystrophy (MLD)
ClinicalTrials.gov ID: NCT03392987
Acronym / sponsor ID: 205756
Conditions: Lysosomal Storage Disease, Metachromatic Leukodystrophy
Keywords: OTL-200, Cryopreserved formulation, Gene therapy, Metachromatic leukodystrophy, MLD, Previously GSK2696274
Phase: Phase 2
Study type: Interventional
Recruitment status: Completed
Enrolment: 10 participants (actual)
Lead sponsor: Orchard TherapeuticsIndustry (pharma, biotech, devices)
Collaborators: Ospedale San Raffaele
Study start: 25 Jan 2018 (actual)
Primary completion: 6 Apr 2022 (actual)
Study completion: 10 Mar 2026 (actual)
First posted: 8 Jan 2018 (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.

Study design

Primary purpose: Treatment
Allocation: Not applicable
Intervention model: Single group
Masking: None (open label)
Number of arms: 1
Model description: This will be a single arm study. All subjects will receive OTL-200 gene therapy and will be followed up for 5 years post-gene therapy.

Arm	Type	Receives
OTL-200 gene therapy	Experimental	Genetic: OTL-200Eligible subjects will receive intravenous (IV) infusion of OTL-200 gene therapy. Subjects will also receive conditioning regimen with busulfan.

Who may qualify

Ages: Up to 6 years
Sex: All
Healthy volunteers: Not accepted
Age groups: Child

Key inclusion criteria (5 listed)

Documented biochemical and molecular diagnosis of MLD, based on ARSA activity below the normal range and identification of two disease-causing ARSA alleles, either known or novel mutations. Novel mutations will be analyzed with in silico prediction tools and excluded from being known common polymorphisms. In the case of a novel mutation(s), a 24-hour urine collection must show elevated sulfatide levels.
Eligible subjects must have EITHER
Parental/guardian signed and dated informed consent.

Key exclusion criteria (20 listed)

If LI MLD variant, clinical manifestations of the disease defined as EITHER of the following:
If EJ MLD variant, symptoms of MLD resulting in the loss of capacity of walking independently as defined by a GMFC level ≥2 or symptoms consistent with cognitive impairment as defined by an IQ<85 using age-appropriate neurocognitive instruments.
Seizures
Signs of the disease revealed at instrumental evaluations (Electroneurography [ENG] and brain MR)

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
OTL-200Also: Previously GSK2696274OTL-200 is an autologous CD34+ enriched cell fraction that contains CD34+ cells transduced with lentiviral vector that encodes for the human ARSA cDNA sequence	Genetic	OTL-200 gene therapy

Primary outcome

Change in Gross Motor Function Measure (GMFM) score
Time frame: At 24 months post gene-therapy
GMFM will evaluate subject's ability to perform specific tasks in different positions. The scoring range is between 100 percent and 0 percent, with 0 percent corresponding to loss of all voluntary movement.

18 secondary outcomes

Change in Gross Motor Function Measure (GMFM) score
Time frame: At 24 months and multiple visits up to 5 years post-gene therapy
Change in Gross Motor Function Classification (GMFC)-MLD score
Time frame: At 24 months and multiple visits up to 5 years post-gene therapy
Change in neurological examinations
Time frame: At 24 months and multiple visits up to 5 years post-gene therapy
Change in Nerve Conduction Velocity (NCV)
Time frame: At 24 months and multiple visits up to 5 years post-gene therapy
Change in total score for brain magnetic resonance (MR) imaging
Time frame: At 24 months and multiple visits up to 5 years post-gene therapy
Change in neurocognitive function (Intelligence Quotient [IQ])
Time frame: At 24 months and multiple visits up to 5 years post-gene therapy
Engraftment measured by percent Lentiviral (LV) positive clonogenic progenitors in bone marrow
Time frame: At Day 30 and multiple visits up to 5 years post-gene therapy
Vector copy number (VCN) level in bone marrow mononuclear cells
Time frame: At Day 30 and multiple visits up to 5 years post-gene therapy
VCN level in peripheral blood mononuclear cell (PBMCs)
Time frame: At Day 60 and multiple visits up to 5 years post-gene therapy
Change in Arylsulfatase A (ARSA) activity in total PBMCs
Time frame: At Day 60 and multiple visits up to 5 years post-gene therapy
Change in ARSA activity in PB CD15+ cells
Time frame: At Day 60 and multiple visits up to 5 years post-gene therapy
Change in ARSA activity in PB CD14+ cells
Time frame: At Day 60 and multiple visits up to 5 years post-gene therapy
Change in ARSA activity in cerebrospinal fluid (CSF)
Time frame: At Day 90 and multiple visits up to 5 years post-gene therapy
Safety and tolerability as measured by recording of adverse events (AEs), including conditioning regimen related toxicity and AEs, and non-conditioning related AEs
Time frame: Up to 5 years post-gene therapy
Safety and tolerability as measured by number of subjects not achieving hematological recovery (i.e., engraftment failure)
Time frame: By Day 60 post-gene therapy
Safety and tolerability as measured by incidences and titers of anti-ARSA antibodies
Time frame: Up to 5 years post-gene therapy
Safety and tolerability as measured by absence of abnormal clonal proliferation (ACP)
Time frame: Up to 5 years post gene-therapy
Safety and tolerability as measured by absence of replication competent lentivirus (RCL)
Time frame: baseline, 1, 3, 6, and 12 months, then once a year up to 5 years post gene-therapy

Results and safety

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 16 Mar 2026.
Derived from this study: PubMed 40267426Fumagalli F, Calbi V, Gallo V, Zambon AA, Recupero S, Ciotti F, Sarzana M, Fraschini M, Scarparo S, De Mattia F, Miglietta S, Pierini C, Soncini M, Morena F, Montini E, Barzaghi F, Consiglieri G, Ferrua F, Migliavacca M, Tucci F, Fratini ES, Ippolito A, Silvani P, Calvi MR, Clerici A, Corti A, Facchini M, Locatelli S, Sangalli M, Zancan S, Miotto F, Natali Sora MG, Baldoli C, Martino S, Cordoba-Claros A, Moro SL, Gollop ND, Abate J, Yarzi MN, Nutkins P, Shenker A, Calissano M, Brooks J, Richardson A, Campbell L, Filippi M, Naldini L, Cicalese MP, Ciceri F, Bernardo ME, Aiuti A. Long-Term Effects of Atidarsagene Autotemcel for Metachromatic Leukodystrophy. N Engl J Med. 2025 Apr 24;392(16):1609-1620. doi: 10.1056/NEJMoa2405727.

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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.

Orchard Clinical Trials study director

Orchard Therapeutics

1 site in 1 country: see every site and its status.

Questions about this trial

What is this clinical trial studying?

A Phase 2 study testing OTL-200 in people with Lysosomal Storage Disease and Metachromatic Leukodystrophy, run by Orchard Therapeutics at 1 site in Italy.

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 5 inclusion and 20 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: finished, as of the sponsor's last update on 16 Mar 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 Italy. 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 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?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

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?

Change in Gross Motor Function Measure (GMFM) score (time frame: At 24 months post gene-therapy). 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 NCT03392987, which also lists 1 linked publication.

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 16 Mar 2026.