Joint Research Office


First global dosing at CRF for a new drug to treat the rare disease, homocystinuria

7 July 2021

The first patient in the world has been dosed at the NIHR UCLH Clinical Research Facility (CRF) in a first-in-human trial of a new drug for the rare disease classical homocystinuria.

First global dosing at CRF for a new drug to treat the rare disease, homocystinuria

Homocystinuria is caused by a defect in a specific gene that causes a deficiency of an enzyme called cystathionine-β-synthase (CBS) in the body.

The job of CBS is to break down homocysteine – a common amino acid in the blood – but when CBS is not working properly, homocysteine can build up in the blood. This can cause serious effects on vision, learning ability and bone health, and can cause thromboembolism – a very dangerous event where a blood vessel is obstructed by a blood clot.

The pharmaceutical company Aeglea BioTherapeutics, Inc. (Aeglea) has developed a drug called ACN00177/ AGLE-177, a human enzyme changed for use as an investigational drug in this research. The aim of the study is to find out if the drug is safe and can lower homocysteine levels in patients with CBS deficiency. Between 16-20 people are expected to take part in the study worldwide.

The study undertaken by Aeglea will take place at the Leonard Wolfson Experimental Neurology Centre, part of the CRF within the National Hospital for Neurology and Neurosurgery (NHNN) at UCLH, as well as several other sites in the UK and Australia.

Dr Elaine Murphy is principal investigator of the study at the CRF, which provides crucial support for novel and early phase trials such as this one, offering dedicated clinical and regulatory expertise to support study investigators and patients. The CRF also provides state-of-the-art facilities required to undertake complex and intense clinical trials in rare diseases, including homocystinuria.

Dr Murphy, of the Charles Dent Metabolic Unit at the NHNN, said: “Untreated homocystinuria is a severe disease as a result of which individuals can develop significant complications including visual impairment, skeletal abnormalities, reduced intellectual capacity, and recurrent thromboembolic events which may be life-threatening.

“Currently available treatment options are complex and do not always result in optimal metabolic control of the condition, leaving patients at risk of lifelong complications.  There is an unmet need therefore for new therapies that can improve the outcomes and quality of life for this patient community.”