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Experimental spinal injection aims to keep kids with rare disease moving

NCT ID NCT03771898

Disease control Sponsor: Shire Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jul 10, 2026 · Updated 1 time

Summary

This study tests a drug called SHP611, given as a spinal injection, in 36 children with late infantile metachromatic leukodystrophy (MLD), a rare and severe brain disease. The main goal is to see if the treatment helps children keep their ability to walk and move for as long as possible. The study compares their progress to similar children who did not receive the drug.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Phase 2

Tests whether the treatment actually works, and watches for side effects, in a larger group.

Participants

36 people

The number who actually took part.

Started

May 2019

Finished

May 2026

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

6 to 72 months

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * The participant must have a documented diagnosis of MLD (Groups A-F): 1. Low ASA activity in leukocytes (compared to laboratory normal range). 2. Elevated sulfatides in urine. * The participant must have a gait disorder due to spastic ataxia or weakness attributable to MLD by the investigator and documented by a primary care physician or a specialist physician by 30 months of age (Groups A-C, and F), or be minimally symptomatic and greater than or equal to (\> =) 6 to less than (\<) 18 months of age (Group D) or be early symptomatic and \> =12 to \< 18 months of age (Group E). Participants in Group E must have neurological symptoms either documented by either a primary care physician or a specialist physician. * The participant's age at the time of informed consent, must be: Group A: 18 to 48 months of age; Group B: 18 to 72 months of age; Group C: 18 to 72 months of age; Group D: \>= 6 to \< 18 months of age; Group E: \> = 12 to \< 18 months of age; Group F: 18 to 72 months of age. * The participant's GMFC-MLD category at screening must be: Group A: GMFC-MLD category of 1 or 2; Group B: GMFC-MLD category of 3; Group C: GMFC-MLD category of 4; Group D: minimally symptomatic, \>= 6 to \< 18 months of age, with the same arylsulfatase (ASA) allelic constitution as an older sibling with confirmed late infantile or juvenile onset MLD; Group E: early symptomatic, \>= 12 to \< 18 months of age with a GMFC-MLD category of 1 or 2 with a history of achieving stable walking (defined as at least 1 month of independent walking); Group F: GMFC-MLD category of 5 or 6. * The participant and his/her parent/representative(s) must have the ability to comply with the clinical protocol. * Participant's parent or legally authorized representative(s) must provide written informed consent prior to performing any study-related activities. Study-related activities are any procedures that would not have been performed during normal management of the participant. Exclusion Criteria: * Multiple sulfatase disorder as determined by abnormal activity of another lysosomal sulfatase (based upon the reference laboratory's normal range) or a known genetic disorder other than MLD. * History of bone marrow transplant (BMT), hematopoietic stem cell transplantation (HSCT), or gene therapy; or undergoes BMT, HSCT, or gene therapy: at any point during the study. * Primary presentation of MLD was behavioral or cognitive symptoms (per investigator's clinical judgment); behavioral symptoms that are secondary to motor deficits (example \[eg\], tantrums in response to loss of motor skills) are not exclusionary. * The participant has any known or suspected hypersensitivity to agents used for anesthesia or has history of difficult airway or potential for airway compromise. * Any other medical condition or serious comorbid illness that in the opinion of the investigator would preclude participation in the study. * Participants with laboratory, ECG or vital sign abnormalities reflecting intercurrent illness that may compromise their safety during the trial should not be enrolled. Abnormal laboratory, vital sign and ECG results at screening should be reviewed with the Takeda medical monitor. * The participant is enrolled in another clinical study that involves use of any investigational product (drug or device) within 30 days or 5 half-lives (whichever is longer) prior to study enrollment or at any time during the study. * The participant has had prior exposure to SHP611. * The participants must weigh \> 11 pound (lbs) (5 kilograms \[kg\]). * The participant has a condition that is contraindicated as described in the SOPH-A-PORT Mini S IDDD Instructions for Use (IFU) 1. The participant has had, or may have, an allergic reaction to the materials of construction. 2. The participant has shown an intolerance to an implanted device. 3. The participant's body size is too small to support the size of the SOPH-A-PORT Mini S Access Port. 4. The participant's drug therapy requires substances known to be incompatible with the materials of construction. 5. The participant has a known or suspected local or general infection. 6. The participant is at risk of abnormal bleeding due to a medical condition or therapy. 7. The participant has one or more spinal abnormalities that could complicate safe implantation or fixation. 8. The participant has a functioning Cerebro spinal fluid(CSF) shunt device . Matched External Control Participants for Group A from Global Leukodystrophy Initiative of Metachromatic Leukodystrophy (GLIA-MLD) The matched external control group must have data for at least baseline gross motor function evaluation. Selection of the external control participants from GLIA-MLD will follow a set of criteria as similar as possible to the inclusion criteria for Group A in the SHP611-201 study protocol. A filtering process will be applied to select the external control participants from the GLIA-MLD database, by meeting all of the following 3 filtering criteria: 1. Filtering criterion 1: requiring documented diagnosis of MLD, based on * low arylsulfatase A (ASA) activity in leukocytes AND elevated sulfatides in urine. OR * biallelic variants in arylsulfatase A gene (ARSA) AND (either low ASA activity in leukocytes OR elevated sulfatides in urine). 2. Filtering criterion 2: requiring documented gait disorder. Participants will be considered qualifying if they present with a gait disorder before 2.5 years (30 months) of age and have a medical record reporting a gait abnormality including, but not limited to, the following terms: ataxia, spasticity, and hyper/hypotonia. 3. Filtering criterion 3: participants will be considered qualifying if they have at least 1 clinical encounter occurring between the age of 18 to 48 months with a GMFC-MLD category either 1 or 2.

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Conditions

The condition(s) this trial relates to.

metachromatic leukodystrophy

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Metachromatic leukodystrophy (MLD)

Contacts and locations

Locations

  • Ann & Robert H. Lurie Children's Hospital of Chicago

    Chicago, Illinois, 60611, United States

  • Attikon University General Hospital

    Chaïdári, Attica, 124 62, Greece

  • Birmingham Children's Hospital NHS Foundation Trust

    Birmingham, B4 6NH, United Kingdom

  • British Columbia Children's Hospital

    Vancouver, British Columbia, V6H 3V4, Canada

  • CHU Lenval

    Nice, 06200, France

  • Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, 19104, United States

  • Children's Hospital of Pittsburgh

    Pittsburgh, Pennsylvania, 15224, United States

  • Childrens Hospital Colorado

    Aurora, Colorado, 80045, United States

  • Cincinnati Children's Hospital Medical Center

    Cincinnati, Ohio, 45229, United States

  • Hospital Universitario Austral - PIN

    Ciudad Autónoma Buenos Aires, Buenos Aires, B1629AHJ, Argentina

  • Hospital Universitario Cruces

    Barakaldo, Vizcaya, 48903, Spain

  • Hospital Vall d'Hebrón

    Barcelona, 8035, Spain

  • Hospital de Clínicas de Porto Alegre

    Porto Alegre, 90035-903, Brazil

  • Hospital for Sick Children

    Toronto, Ontario, M5G 1X8, Canada

  • Hôpital Bicêtre - Paris Sud

    Le Kremlin-Bicêtre, 94275, France

  • IRCCS Ospedale Pediatrico Bambino Gesù - INCIPIT - PIN

    Roma, 165, Italy

  • Kanazawa University Hospital

    Kanazawa, 920-8641, Japan

  • Los Angeles Biomedical Research Institute at Harbor-UCLA

    Torrance, California, 90502, United States

  • Mayo Clinic - PPDS

    Rochester, Minnesota, 55905, United States

  • Montreal Children's Hospital

    Montreal, Quebec, H3H 1P3, Canada

  • New York University Langone Medical Center

    New York, New York, 10016, United States

  • Rare Disease Research, LLC

    Atlanta, Georgia, 30303, United States

  • Stollery Children's Hospital University of Alberta

    Edmonton, Alberta, T6G 2R7, Canada

  • Tel Aviv Sourasky Medical Center

    Tel Aviv, 64239, Israel

  • UZ Antwerpen

    Edegem, 2650, Belgium

  • University of Iowa Stead Family Children's Hospital

    Iowa City, Iowa, 52242, United States

  • University of Utah

    Salt Lake City, Utah, 84108, United States

  • Universitätsklinikum Hamburg Eppendorf

    Hamburg, 20246, Germany

  • Universitätsklinikum Tübingen

    Tübingen, 72076, Germany

  • VU Medisch Centrum

    Amsterdam, 1081 HV, Netherlands

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