CompletedPhase 1/2

Gene Therapy for Metachromatic Leukodystrophy (MLD)

Italy20 participantsStarted 2010-04-09

Plain-language summary

This Phase I/II clinical trial consists of the application of lentiviral vector-based gene therapy to patients affected by Metachromatic Leukodystrophy (MLD), a rare inherited Lysosomal Storage Disorder (LSD) resulting from mutations in the gene encoding the Arylsulfatase A (ARSA) enzyme. The medicinal product consists of autologous CD34+ hematopoietic stem/progenitor cells in which a functional ARSA cDNA is introduced by means of 3rd generation VSV-G pseudotyped lentiviral vectors.

Who can participate

Age range

7 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * Pre-symptomatic MLD patients with the late infantile variant; * Pre- or early-symptomatic MLD patients with the early juvenile variant; * Patients for whom parental/guardian signed informed consent has been obtained. Exclusion Criteria: * HIV RNA and/or HCV RNA and/or HBV DNA positive patients; * Patients affected by neoplastic diseases; * Patients with cytogenetic alterations typical of MDS/AML; * Patients with end-organ functions or any other severe disease which, in the judgment of the investigator, would make the patient inappropriate for entry into this study; * Patients enrolled in other trials/other therapeutic approaches that might become available; * Patient who underwent allogeneic hematopoietic stem cell transplantation in the previous six months; * Patient who underwent allogenic hematopoietic stem cell transplantation with evidence of residual cells of donor origin.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Improvement of Gross Motor Function Measure (GMFM) score

Timeframe: 24 months after treatment

Increase of residual Arylsulfatase A (ARSA) activity

Timeframe: 24 months after treatment

Conditioning regimen-related safety

Timeframe: at +60 days after transplantation

Conditioning regimen-related toxicity

Timeframe: 3 years after treatment

The short-term safety and tolerability of lentiviral-transduced cell infusion

Timeframe: 48 hours after treatment infusion

The long-term safety of lentiviral-transduced cell infusion

Timeframe: baseline, 1, 3, 6, and 12 months after treatment, then once a year

The long-term safety of lentiviral-transduced cell infusion

Timeframe: baseline, 3, 6 and 12 months after treatment, then once a year

Trial details

NCT IDNCT01560182

SponsorOrchard Therapeutics

Sponsor typeINDUSTRY

Study typeINTERVENTIONAL

Primary completion2018-04-09

View on ClinicalTrials.gov More Lysosomal Storage Disease trials

Plain-language summary

Who can participate

Age range

7 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Improvement of Gross Motor Function Measure (GMFM) score

Timeframe: 24 months after treatment

Increase of residual Arylsulfatase A (ARSA) activity

Timeframe: 24 months after treatment

Conditioning regimen-related safety

Timeframe: at +60 days after transplantation

Conditioning regimen-related toxicity

Timeframe: 3 years after treatment

The short-term safety and tolerability of lentiviral-transduced cell infusion

Timeframe: 48 hours after treatment infusion

The long-term safety of lentiviral-transduced cell infusion

Timeframe: baseline, 1, 3, 6, and 12 months after treatment, then once a year

The long-term safety of lentiviral-transduced cell infusion

Timeframe: baseline, 3, 6 and 12 months after treatment, then once a year