Homocystinuria - Pipeline Insight, 2025

DelveInsight's, "Homocystinuria - Pipeline Insight, 2025" report provides comprehensive insights about 3+ companies and 3+ pipeline drugs in Homocystinuria pipeline landscape. It covers the pipeline drug profiles, including clinical and nonclinical stage products. It also covers the therapeutics assessment by product type, stage, route of administration, and molecule type. It further highlights the inactive pipeline products in this space.

Geography Covered:

• Global coverage

Homocystinuria: Understanding

Homocystinuria: Overview

Homocystinuria is a rare genetic disorder caused by enzyme deficiencies in homocysteine metabolism, leading to tall stature, eye lens dislocation, brittle bones, and increased blood clot risks. Symptoms, typically appearing in childhood, may include intellectual disability and seizures. Inherited in an autosomal recessive pattern, treatment involves vitamin supplements or a low-methionine diet and betaine. Early diagnosis can prevent complications, but there is no cure. Homocystinuria typically presents in infancy or early childhood, though some may not show symptoms until adulthood. Common signs include nearsightedness, lens dislocation, tall stature, and long, thin limbs. Affected individuals may develop weak bones (osteoporosis), scoliosis, and chest deformities like pectus carinatum or excavatum. Developmental delays, learning disabilities, and behavioral problems are also common. Less frequent symptoms include megaloblastic anemia, seizures, and movement issues, with the risk of blood clots posing serious complications like stroke. Symptoms may worsen after consuming protein-rich foods or during illness.

Homocystinuria is a metabolic disorder caused by enzyme deficiencies that impair the breakdown of the amino acid homocysteine, leading to its accumulation in the body. The most common form, classical homocystinuria, results from mutations in the CBS gene, which encodes the enzyme cystathionine beta-synthase. This enzyme requires vitamin B6 to metabolize homocysteine and serine, and its deficiency causes a toxic buildup of homocysteine that damages the nervous and vascular systems. Less common forms of the disease are linked to mutations in genes like MTHFR, MTR, or MTRR, which are involved in folate and vitamin B12 metabolism. Homocystinuria follows an autosomal recessive inheritance pattern, where both parents must pass on a defective gene for the condition to manifest. The diagnosis of homocystinuria often begins with newborn screening through a blood test to measure amino acid levels, particularly methionine and homocysteine. Elevated levels of these, along with the detection of homocystine in urine, suggest the condition. Confirmation is achieved via further testing, including enzyme function assays in liver samples, genetic testing to identify mutations in the CBS gene, and skin fibroblast cultures to assess enzyme activity. Clinical signs such as lens dislocation, skeletal abnormalities, and developmental delays can also raise suspicion. Due to the risk of serious complications, regular follow-up and monitoring are essential in managing homocystinuria.

Treatment for homocystinuria aims to manage symptoms and prevent complications, as there is no cure. About half of patients respond to lifelong vitamin B6 (pyridoxine) along with folate and vitamin B12 supplements. Non-responders require a low-methionine diet and may take trimethylglycine (betaine) to lower homocysteine levels. Regular monitoring is essential to adjust treatments and prevent serious complications like blood clots and intellectual disabilities.

"Homocystinuria- Pipeline Insight, 2025" report by DelveInsight outlays comprehensive insights of present scenario and growth prospects across the indication. A detailed picture of the Homocystinuria pipeline landscape is provided which includes the disease overview and Homocystinuria treatment guidelines. The assessment part of the report embraces, in depth Homocystinuria commercial assessment and clinical assessment of the pipeline products under development. In the report, detailed description of the drug is given which includes mechanism of action of the drug, clinical studies, NDA approvals (if any), and product development activities comprising the technology, Homocystinuria collaborations, licensing, mergers and acquisition, funding, designations and other product related details.

Report Highlights:

• The companies and academics are working to assess challenges and seek opportunities that could influence Homocystinuria R&D. The therapies under development are focused on novel approaches to treat/improve Homocystinuria.

Homocystinuria Emerging Drugs Chapters

This segment of the Homocystinuria report encloses its detailed analysis of various drugs in different stages of clinical development, including Phase III, II, I, Preclinical and Discovery. It also helps to understand clinical trial details, expressive pharmacological action, agreements and collaborations, and the latest news and press releases.

Homocystinuria Emerging Drugs

• TVT-058: Travere Therapeutics

Pegtibatinase (TVT-058) is an investigational PEGylated, recombinant enzyme replacement therapy designed to address the underlying cause of classical homocystinuria (HCU). In preclinical studies, pegtibatinase has demonstrated an ability to reduce total homocysteine levels and improve clinical parameters. Pegtibatinase is currently advancing in the Phase III Study to assess its safety, tolerability, pharmacokinetics, pharmacodynamics and clinical effects in patients with classical HCU. Pegtibatinase has been granted Rare Pediatric Disease and Fast Track designations by the US Food and Drug Administration (FDA), as well as Orphan Drug designation in the US and Europe.

Homocystinuria: Therapeutic Assessment

This segment of the report provides insights about the different Homocystinuria drugs segregated based on following parameters that define the scope of the report, such as:

• Major Players in Homocystinuria
• There are approx. 3+ key companies which are developing the therapies for Homocystinuria. The companies which have their Homocystinuria drug candidates in the most advanced stage, i.e. Phase III include, Travere Therapeutics.
• Phases

DelveInsight's report covers around 3+ products under different phases of clinical development like

• Late stage products (Phase III)
• Mid-stage products (Phase II)
• Early-stage product (Phase I) along with the details of
• Pre-clinical and Discovery stage candidates
• Discontinued & Inactive candidates
• Route of Administration

Homocystinuria pipeline report provides the therapeutic assessment of the pipeline drugs by the Route of Administration. Products have been categorized under various ROAs such as

• Oral
• Intravenous
• Subcutaneous
• Parenteral
• Topical
• Molecule Type

Products have been categorized under various Molecule types such as

• Recombinant fusion proteins
• Small molecule
• Monoclonal antibody
• Peptide
• Polymer
• Gene therapy
• Product Type

Drugs have been categorized under various product types like Mono, Combination and Mono/Combination.

Homocystinuria: Pipeline Development Activities

The report provides insights into different therapeutic candidates in Phase III, II, I, preclinical and discovery stage. It also analyses Homocystinuria therapeutic drugs key players involved in developing key drugs.

Pipeline Development Activities

The report covers the detailed information of collaborations, acquisition and merger, licensing along with a thorough therapeutic assessment of emerging Homocystinuria drugs.

Homocystinuria Report Insights

• Homocystinuria Pipeline Analysis
• Therapeutic Assessment
• Unmet Needs
• Impact of Drugs

Homocystinuria Report Assessment

• Pipeline Product Profiles
• Therapeutic Assessment
• Pipeline Assessment
• Inactive drugs assessment
• Unmet Needs

Key Questions:

Current Treatment Scenario and Emerging Therapies:

• How many companies are developing Homocystinuria drugs?
• How many Homocystinuria drugs are developed by each company?
• How many emerging drugs are in mid-stage, and late-stage of development for the treatment of Homocystinuria?
• What are the key collaborations (Industry-Industry, Industry-Academia), Mergers and acquisitions, licensing activities related to the Homocystinuria therapeutics?
• What are the recent trends, drug types and novel technologies developed to overcome the limitation of existing therapies?
• What are the clinical studies going on for Homocystinuria and their status?
• What are the key designations that have been granted to the emerging drugs?

Key Players

• Travere Therapeutics
• Syntis Bio

Key Products

• TVT-058
• SYNT 202