Could a daily pill replace IV infusions for gaucher type 3?
NCT ID NCT05222906
First seen Jun 27, 2026 · Last updated Jul 14, 2026 · Updated 2 times
Summary
This phase 3 trial tests venglustat, a daily oral drug, against the standard IV treatment Cerezyme in 43 people with Gaucher disease type 3. Participants must have been on enzyme replacement therapy for at least 3 years. The goal is to see if venglustat can stabilize or improve neurological symptoms while keeping the body stable.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- venglustat
- What this could lead to
- If it works, this could offer a daily pill option for Gaucher type 3 patients, potentially replacing or reducing the need for regular IV infusions.
- What could go wrong
- This is a small, early-phase 3 trial with only 43 participants. It may not show clear benefit over the current standard treatment, and side effects are still being studied.
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
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Phase 3
Large-scale testing in a bigger group. Usually the last step before a treatment can be approved.
- Participants
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43 people
The number who actually took part.
- Started
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Apr 2022
- Expected to finish
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Oct 2026
An estimate. End dates often move.
- Lead sponsor
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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
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12 years and older
- Sex
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Anyone
- Healthy volunteers
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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 Hide 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 has received ERT (Cerezyme or other ERT; as deemed appropriate by local regulations) for at least 3 years prior to enrollment, on a stable dose for at least 6 months, is deemed clinically stable for at least 1 year by the Investigator and is within the therapeutic goals as all of the following: * Hemoglobin level of ≥11.0 g/dL for females and ≥12.0 g/dL for males * Platelet count ≥100 000/mm3 * Spleen volume \<10 multiples of normal (MN) * Liver volume \<1.5 MN * No bone crisis and free of symptomatic bone disease such as bone pain attributable to osteonecrosis and/or pathological fractures within 3 months prior to screening * Adult participant is ≥18 years of age * Pediatric participant is ≥12 years \<18 years of age * The participant has a clinical diagnosis of GD3 and a documented deficiency of acid beta-glucosidase activity confirming this diagnosis. * The participant has a modified SARA score of 1 or above. * The presence of gaze palsy, predominantly horizontal, with slow or absent saccades. * If the participant has a history of seizures, they are well controlled under appropriate medication not identified as a strong or moderate inducer or inhibitor of CYP3A. * Participants ≥ 30 kg of weight * Contraception for sexually active male or female participants; not pregnant or breastfeeding; no sperm donating for male participant * Signed written informed assent/consent Exclusion Criteria: * The participant is blood transfusion-dependent. * Prior esophageal varices or liver infarction or current liver enzymes (alanine aminotransferase \[ALT\]/ aspartate aminotransferase \[AST\]) or total bilirubin \>2 times the upper limit of normal, unless the participant has a diagnosis of Gilbert Syndrome. * The participant has any clinically significant disease, other than GD, including cardiovascular (congenital cardiac defect, coronary artery disease, valve disease or left sided heart failure; clinically significant arrhythmias or conduction defect), hepatic, gastrointestinal, pulmonary, neurologic, endocrine, metabolic (eg, hypokalemia, hypomagnesemia) or psychiatric disease, other medical conditions, or serious intercurrent illnesses that may preclude participation in the opinion of the Investigator. * The participant has renal insufficiency, as defined by an estimated glomerular filtration rate \<30 mL/min/1.73m2 at the screening visit. * The participant has a history of cancer, except for basal cell carcinoma. * The participant has progressive myoclonic epilepsy. * The participant is pregnant (has a positive serum beta-human chronic gonadotropin \[β-hCG\]) or lactating. * The participant requires use of invasive ventilatory support. * The participant requires use of noninvasive ventilator support while awake for longer than 12 hours daily. * The participant is scheduled for in-patient hospitalization including elective surgery, during the study. * The participant has had a major organ transplant (eg, bone marrow or liver). * A history of drug and/or alcohol abuse within the past year prior to the screening visit. * Chaperone therapy within 6 months, substrate reduction therapy other than venglustat within 6 months or venglustat substrate reduction therapy prior to enrollment. * Exposure to any investigational drug within the last 30 days or 5 half-lives from screening, whichever is longer. * The participant has received strong or moderate inducers or inhibitors of CYP3A within 14 days or 5 half-lives from screening, whichever is longer, prior to screening. This also includes the consumption of grapefruit, grapefruit juice, or grapefruit containing products within 72 hours of starting venglustat. The participant is unwilling to abstain from consumption of grapefruit, grapefruit juice, or grapefruit containing products for the duration of the treatment period. * The participant, in the opinion of the investigator, is unable to adhere to the requirements of the study or unable to undergo study assessments (eg, contraindication for MRI). * Type of participant and disease characteristic: the participant has had a total splenectomy prior to enrollment. The patient had a partial splenectomy within 3 years prior to randomization. * Participant not suitable for participation, whatever the reason, as judged by the Investigator, including medical or clinical conditions, or participants potentially at risk of noncompliance to study procedures * Sensitivity to any of the study interventions, or components thereof, or drug or other allergy that, in the opinion of the Investigator, contraindicates participation in the study The above information is not intended to contain all considerations relevant to a potential participation in a clinical trial.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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47-87, boulevard de l'hôpital - Investigational Site Number: 2500003
Paris, 75013, France
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Azienda Ospedaliera Universitaria (AOU) "Federico II" - Investigational Site Number: 3800002
Naples, 80131, Italy
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Children's Hospital Research Institute of Manitoba - Investigational Site Number: 1240001
Winnipeg, Manitoba, R3E 3P4, Canada
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Cukurova University Medical School Hospital-Investigational Site Number : 7920001
Adana, 01790, Turkey (Türkiye)
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Debreceni Egyetem, Klinikai Központ, Reumatológiai Klinika - Investigational Site Number: 3480001
Debrecen, H-4032, Hungary
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Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico - Investigational Site Number : 3800003
Milan, Lombardy, 20122, Italy
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Gazi University Medical Hospital-Investigational Site Number : 7920002
Ankara, 06500, Turkey (Türkiye)
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Hopital Necker - Investigational Site Number: 2500001
Paris, 75015, France
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Hospital de Ninos - Investigational Site Number: 320001
Buenos Aires, 1426, Argentina
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Investigational Site Number : 8260001
London, NW3-2PF, United Kingdom
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Istanbul University Medical Faculty Hospital-Investigational Site Number : 7920004
Istanbul, 34093, Turkey (Türkiye)
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Lysosomal & Rare Disorders Research & Treatment Center, Inc - Investigational Site Number: 8400001
Fairfax, Virginia, 22030, United States
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National Taiwan University Hospital-Investigational Site Number: 1580001
Taipei, Taiwan, 10041, China
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Odawara Municipal Hospital-Investigational Site Number : 3920002
Odawara, Kanagawa, 250-8558, Japan
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Peking Union Medical College Hospital - Investigational Site Number: 1560001
Beijing, 100005, China
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SphinCS GmbH - Investigational Site Number: 2760001
Hochheim am Main, 65239, Germany
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Texas Oncology - Medical City Dallas Site Number : 8400008
Dallas, Texas, 75230, United States
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The First Affiliated Hospital - Investigational Site Number: 1560002
Guangzhou, 510080, China
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Tohoku University School of Medicine - Investigational Site Number: 3920001
Sendai, 980-8574, Japan
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University of Iowa - Investigational Site Number: 8400002
Iowa City, Iowa, 52242, United States
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Xinhua Hospital - Investigational Site Number: 1560004
Shanghai, 200092, China
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Yale University School of Medicine - Investigational Site Number: 8400003
New Haven, Connecticut, 06511, United States
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