A study to evaluate the safety and effectiveness of pegtibatinase in patients aged 12 to 65 years with classical homocystinuria.

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What is this study about?

This study is being conducted to evaluate the effectiveness and safety of a medication called pegtibatinase in individuals living with Classical Homocystinuria. This condition is caused by a deficiency in the cystathionine beta synthase enzyme, which leads to high levels of certain substances in the blood. Participants in the study will continue to receive their usual standard of care treatments while also receiving either pegtibatinase or a placebo via subcutaneous injection, which is a method of delivering medicine through a needle just under the skin.

The goal of the study is to see how pegtibatinase affects levels of total homocysteine (tHcy) and methionine (Met) in the blood. High levels of these substances are common in people with this disease. During the study, blood samples will be taken to monitor these levels and to ensure that the treatment is being tolerated well by the body.

Who Can Join the Study?

  • You must have a diagnosis of Classical Homocystinuria, which is a rare condition, confirmed through medical exams, blood tests, or molecular genetic testing (tests that look at your DNA to find changes in your genes).
  • Your plasma tHcy levels, which is the amount of a substance called homocysteine found in your blood, must be measured during the screening process. Most participants will have a level of 80 µM (micromoles per liter) or higher, but some may be included if their level is between 50 and 80 µM.
  • You must be between 12 and 65 years old at the time of the initial screening.
  • You must be willing to follow a stable diet, meaning you keep your food intake consistent, specifically regarding DIPI (dietary intake of protein and specific nutrients).
  • You must be willing to continue your current HCU-related therapies, such as taking betaine, pyridoxine (a form of vitamin B6), or using medical food (specialized nutritional formulas designed for your condition) as part of your regular treatment.

Who Cannot Join the Study?

  • You cannot participate if you have Marfan syndrome, which is a genetic condition that affects the body’s connective tissues, methylenetetrahydrofolate reductase (MTHFR) deficiency, which is a genetic issue affecting how your body processes certain nutrients, or disorders of cobalamin metabolism, which means your body has trouble using vitamin B12.
  • You cannot participate if your body weight is 160 kg (352 pounds) or more.
  • You cannot participate if you have previously used pegtibatinase or pegtarviliase.
  • You cannot participate if you are currently using or plan to use any injectable medicine that contains PEG (polyethylene glycol, a common ingredient in many medicines), unless it is the study medicine or a vaccine containing PEG.
  • You cannot participate if you have a history of a severe immune reaction (a strong, harmful reaction by your body’s defense system) to any product containing PEG.
  • You cannot participate if you have had an organ transplant.
  • You cannot participate if you have received intensive chronic immunosuppressive treatment (strong medicine used to lower your body’s ability to fight infections) within the 6 months before the screening process began.

Where you can join this trial?

Verified and Recommended Sites

No sites found in this category

Verified Sites

Site Name City Country Status
Hopital Necker Enfants Malades Paris France
Unidade Local De Saúde De Santa Maria, E.P.E. Lisbon Portugal

Other Sites

Site Name City Country Status
Hospital Sant Joan De Deu Barcelona Esplugues De Llobregat Spain
Hospital Universitario 12 De Octubre Madrid Spain
Virgen del Rocío University Hospital Sevilla Spain
Instytut Pomnik Centrum Zdrowia Dziecka Warsaw Poland
Universidade De Santiago De Compostela Santiago De Compostela Spain
Samodzielny Publiczny Zaklad Opieki Zdrowotnej Szpital Uniwersytecki W Krakowie Cracow Poland
Children’s Health Ireland Dublin Ireland
Universitaetsklinikum Leipzig AöR Leipzig Germany
Azienda Universitaria Ospedaliera Consorziale Policlinico Bari Bari Italy
Cvadvwake Umabccdzcqewjn Saqoledae Woluwe-Saint-Lambert Belgium
Cwvrko Hfnmgnsvvfi Rcyvflxs Uixfuibvjgjvb Dk Tmovy Tours France
Udxhuswsfpiikeahhpxjt Mknpfnak Ayu Munster Germany
Cicm De Ncrqf Vandoeuvre Les Nancy France
Ubalspwzba Od Aisxlil Edegem Belgium
Czxssg Hysnfhvszu E Uuubpadevtnzz Du Cypkonl Eonjpv Coimbra Portugal

Want to learn more about this study or check if you can participate? Contact us.

Trial status

Country Status Recruitment Start
Belgium Belgium
Not yet recruiting
01.07.2026
France France
Not yet recruiting
01.07.2026
Germany Germany
Not yet recruiting
01.07.2026
Ireland Ireland
Not yet recruiting
01.07.2026
Italy Italy
Not yet recruiting
01.07.2026
Poland Poland
Not yet recruiting
01.07.2026
Portugal Portugal
Not yet recruiting
01.07.2026
Spain Spain
Not yet recruiting
01.07.2026

Trial locations

Pegtibatinase is an experimental medication given as a shot under the skin. In this study, it is used alongside standard care to see if it can help lower levels of certain substances in the blood, specifically homocysteine and methionine, in people with a condition called classical homocystinuria.

Classical Homocystinuria – This is a genetic metabolic disorder caused by a deficiency in an enzyme needed to break down the amino acid methionine. Because this process is interrupted, high levels of homocysteine build up in the blood and urine. As the condition progresses, the excess homocysteine can affect various bodily systems. This imbalance often leads to changes in the structure of connective tissues and physical development. The metabolic buildup can also impact the eyes and the central nervous system over time.

Trial ID:
2023-504135-40-00
Protocol code:
TVTX-TVT058-301
NCT ID:
NCT06247085
Trial Phase:
Therapeutic confirmatory (Phase III)

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