NCT lookup

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.

• Los Angeles, California, United States
• Atlanta, Georgia, United States
• Bethesda, Maryland, United States
• Boston, Massachusetts, United States
• New York, New York, United States
• Pilar, Buenos Aires, Argentina
• Córdoba, Argentina
• Porto Alegre, Rio Grande do Sul, Brazil
• Prague, Czechia
• Paris, France
• Giessen, Germany
• Milan, Italy
• Akita, Akita, Japan
• Sendai, Miyagi, Japan
• Lisbon, Portugal
• Moscow, Russia
• L'Hospitalet de Llobregat, Barcelona [Barcelona], Spain
• Esplugues de Llobregat, Catalunya [Cataluña], Spain
• Santiago de Compostela, Galicia [Galicia], Spain
• Ankara, Turkey (Türkiye)
• Cambridge, Cambridgeshire, United Kingdom
• Manchester, United Kingdom
• Salford, United Kingdom