Hope fades: trial of Tay-Sachs drug venglustat terminated early
NCT ID NCT04221451
First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This Phase 3 trial tested an oral drug called venglustat in 75 adults and children with late-onset Tay-Sachs or Sandhoff disease, rare genetic disorders that cause progressive nerve damage. The drug aimed to lower toxic fat buildup in the brain and slow disease worsening. However, the study was terminated early, so we don't have clear results on whether it worked.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- venglustat (oral tablet)
- What this could lead to
- If it had succeeded, venglustat could have slowed or stabilized symptoms of Tay-Sachs and Sandhoff diseases by reducing harmful fat buildup in the brain.
- What could go wrong
- The trial was terminated early, so results are limited. It was a small study (75 people) and the drug may not have worked or caused side effects. These are ultra-rare diseases, so findings may not apply broadly.
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 3
Large-scale testing in a bigger group. Usually the last step before a treatment can be approved.
- Participants
-
75 people
The number who actually took part.
- Started
-
Jun 2020
- Finished
-
Dec 2024
- 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
-
2 years and older
- Sex
-
Anyone
- Healthy volunteers
-
Accepted
You do not need to have the condition being studied to take part.
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 : * Primary population and adult secondary population: age ≥ 18 years * Juvenile/adolescent secondary population: 2 ≥ age \< 18 years with weight ≥ 10 kg * Participants with a diagnosis of late onset GM2 gangliosidosis (Tay-Sachs disease and Sandhoff disease) caused by genetic β-hexosaminidase deficiency resulting from mutations in the HEXA or HEXB genes (primary population only); a secondary population will enroll patients with diagnosis of juvenile/adolescent GM2 gangliosidosis, GM1 gangliosidosis, saposin C deficiency, sialidosis type 1 or juvenile adult galactosialidosis * For primary population, the participant has the ability to perform the 9-HPT at the screening visit in \< = 240 seconds for the 2 consecutive trials of the dominant hand and the 2 consecutive trials of the nondominant hand. * Participants with a history of seizures well controlled by medication other than strong or moderate inducer or inhibitor of CYP3A4 * Participant is cooperative, able to ingest oral medication, willing to travel to a study site (if applicable), and able to comply with all aspects of the study, including all assessments, according to the Investigator's judgement * Signed written informed assent/consent * Contraception for sexually active male participants or female patient; not pregnant or breastfeeding; no sperm donating for male participant Exclusion criteria: * Participant has clinical features of Tay-Sachs or Sandhoff disease, not caused by β-hexosaminidase deficiency resulting from mutations in the HEXA or HEXB genes and/or is without clinical features * For primary population and participants with juvenile/adolescent late onset GM2 gangliosidosis and GM1 gangliosidosis, the participant cannot understand and perform all age-appropriate study assessments with the exception of 25FWT and PROs. * Relevant medical disorders that would compromise his/her safety * Documented diagnosis of hepatitis B, C, human immunodeficiency virus 1 or 2 * World Health Organization (WHO) grade \>= 2 cortical cataract or a grade \>= 2 posterior subcapsular cataract; patients with nuclear cataracts will be accepted * Participant who requires invasive ventilatory support * Current treatment by anticoagulants, cataractogenic medications or any medications that may worsen the vision of patient with cataract * Previous treatment with substrate reduction therapy (SRT) within 3 months prior to study enrollment, strong or moderate inducers or inhibitors of CYP3A4 within 14 days or 5 half-lives prior to enrollment. This also includes the consumption of grapefruit, grapefruit juice or grapefruit products within 72hrs prior to starting investigational medicinal product (IMP) administration. * Current participation in another study * Use of investigational medicinal product (IMP) within 3 months or 5 half-lives, whichever is longer, before study enrollment (for N-acetyl-leucine, within 5 half-lives before study enrollment). * Liver enzymes (alanine aminotransferase \[ALT\]/aspartate aminotransferase \[AST\]) or total bilirubin \> 2 x the upper limite of normal (ULN) at the time of screening unless the participant has the diagnosis of Gilbert syndrome and maintains a level of bilirubin \< 5 mg/dl and direct bilirubin \< 20% (1 mg/dl) of total bilirubin level * Renal insufficiency is defined by estimated glomerular filtration rate (eGFR) \< 30 mL/min/1.73m2 at the screening visit The above information is not intended to contain all considerations relevant to a patient's potential participation in a clinical trial.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for GM1 gangliosidosis are added.
Genom att skicka in godkänner du våra Användarvillkor
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
-
APHP - Centre Hospitalier la Pitié Salpetrière, Service de Neurologie, 47-83 Boulevard De l'Hôpital_Investigational site number 2500001
Paris, 75013, France
-
Ataxia Center and HD Center of Excellence, 300 UCLA Med Plaza, Suite B200 - Investigational site number 8400004
Los Angeles, California, 90095, United States
-
Cambridge University Hospitals NHS Foundation Trust Addenbrookes Hospital Hills Road_investigational site number 8260001
Cambridge, Cambridgeshire, CB2 OQQ, United Kingdom
-
Centro Hospitalar Universitário Lisboa Norte- Hospital Santa Maria Avenida Professor Egas Moniz_investigational site number 6200002
Lisbon, 1649-035, Portugal
-
Clínica Universitaria Reina Fabiola Córdoba_investigational site number 0320001
Córdoba, X5004FHP, Argentina
-
Emory Genetics - Investigational site number 8400006
Atlanta, Georgia, 30322, United States
-
Gazi Universitesi Tip Fakultesi Emniyet Street Mevlana Blv Besevler Yenimahalle_investigational site number 7920001
Ankara, 06500, Turkey (Türkiye)
-
Hospital Clínico Universitario de Santiago-CHUS. Travesia de Chopuana, s/n_investigational site number 7240002
Santiago de Compostela, Galicia [Galicia], 15706, Spain
-
Hospital Maternoinfantil Sant Joan de Déu Paseo de Sant Joan de Déu, 2_investigational site number 7240001
Esplugues de Llobregat, Catalunya [Cataluña], 08950, Spain
-
Hospital Universitari de Bellvitge. Feixa Llarga, S / N_investigational site number 7240004
L'Hospitalet de Llobregat, Barcelona [Barcelona], 08907, Spain
-
Hospital Universitario Austral Pilar, Buenos Aires_Unidad de Investigación Clínica_investigational site number 0320002
Pilar, Buenos Aires, B1629ODT, Argentina
-
Hospital de Clinicas de Porto Alegre _investigational site number 0760001
Porto Alegre, Rio Grande do Sul, 90035 003, Brazil
-
Investigational Site Number : 3800001
Milan, 20133, Italy
-
Investigational Site Number : 8260003
Manchester, M13 9WL, United Kingdom
-
Japanese Red Cross Akita Hospital 222-1 Nawashirosawa, Kamikitatesaruta_investigational site number 3920001
Akita, Akita, 010-1495, Japan
-
Massachusetts General Hospital - Charles River Plaza 175 Cambridge St. Ste 340 - Investigational site number 8400002
Boston, Massachusetts, 02114, United States
-
NIH National Human Genome Research Institute - 10 Center Dr - Bldg. 10 CRC3-2551 MSC 1205 - Investigational site number 8400005
Bethesda, Maryland, 20892, United States
-
NYU Langone - 550 First Avenue-Investigational site number 8400001
New York, New York, 10016, United States
-
Research Center Of Neurology 80, Volokolamskoye shosse_investigational site number 6430001
Moscow, 125367, Russia
-
Salford Royal NHS Foundation Trust Salford Royal Hospital Stott Lane_investigational site number 8260002
Salford, M6 8HD, United Kingdom
-
Tohoku Medical and Pharmaceutical University Hospital_investigation site number 3920002
Sendai, Miyagi, 983-8512, Japan
-
Universitätsklinikum der Justus-Liebig-Universität Gießen Zentrum für Kinderheilkunde und Jugendmedizin Feulgenstraße 10-12_investigational site number 2760001
Giessen, 35390, Germany
-
Vseobecna Fakultni Nemocnice V Praze Metabolicke centrum U Nemocnice 2_investigational site number 2030001
Prague, 12808, Czechia
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- Can a repurposed drug slow rare childhood brain diseases?
- One-Time gene therapy aims to halt rare, fatal brain disease in children
- New pill shows promise for rare brain disorders in early trial
- Small study tracks rare disease to pave way for future treatments
- Scientists track rare brain diseases to pave way for future cures
- Major study tracks rare brain diseases to unlock their secrets