Methylmalonic Acidaemia- Pipeline Insight, 2025

This “Methylmalonic Acidaemia- Pipeline Insight, 2025” report provides comprehensive insights about 4+ companies and 4+ pipeline drugs in Methylmalonic Acidaemia 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.

Methylmalonic Acidaemia: Understanding

Methylmalonic Acidaemia: Overview

Methylmalonic acidemia (MMA) refers to a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly. People with this disease can't change, or 'metabolize,' a substance called called methymalonyl-coenzyme A. The result is a buildup of methylmalonic acid in the body. Vitamin B12 deficiency states that are not due to genetic causes, such as vitamin B12 deficiency, can also cause methylmalonic acid to build up in the body.

The effects of methylmalonic acidemia vary from mild to life-threatening. This condition, which can appear in early infancy or the first year of life, is characterized by excessive tiredness (lethargy), vomiting, dehydration, weak muscle tone (hypotonia), acid-base imbalance and in some patients, high levels of ammonia. Without treatment, the disorder can lead to coma and death in some cases.

Causes

Methylmalonic acidemia can be caused by mutations (or mistakes) in several genes. Individuals with methylmalonic acidemia can be divided into two groups: 1) patients with isolated MMA, where only methylmalonic acid is elevated 2) patients with combined defects who also have increased levels of homocysteine. Isolated methylmalonic acidemia is caused by mutations (or mistakes) in the MMAA, MMAB, and MUT genes. About half of the patients with isolated methylmalonic acidemia have mutations in the MUTgene.

This gene provides instructions for making an enzyme called methylmalonyl CoA mutase, which is responsible for one step in the breakdown of several amino acids (the building blocks of proteins), certain lipids, and cholesterol. Mutations in the MUT gene alter the structure or reduce the amount of the enzyme, which prevents these molecules from being broken down properly. As a result, a substance called methylmalonyl-CoA and other potentially toxic compounds can accumulate, causing the signs and symptoms of methylmalonic acidemia.

Diagnosis

Methylmalonic Acidemias can usually be diagnosed before birth (prenatally) by measuring the concentration of methylmalonic acid in amniotic fluid or activity of the deficient enzyme in fluid or tissue samples obtained from the fetus or uterus during pregnancy (amniocentesis or chorionic villus sampling [CVS]).

In most affected infants, the disorder is diagnosed or confirmed in the first weeks of life, based upon a thorough clinical evaluation, a detailed patient and family history, and a variety of specialized tests. Laboratory studies (assays) are typically conducted on certain white blood cells (leukocytes) or cultured skin cells (fibroblasts) to confirm deficient activity of the deficient enzyme. Additional laboratory studies may reveal excessive levels of acids and increased accumulations of ketone bodies in bodily tissues and fluids (ketoacidosis), increased levels of glycine in the blood and urine (hyperglycinemia and hyperglycinuria), high levels of ammonia in the blood (hyperammonemia), and/or decreased levels of circulating platelets and white blood cells (thrombocytopenia and neutropenia).

Treatment

Unfortunately, there is no cure for methylmalonic acidemia. However, it is managed primarily with a low-protein, high-calorie diet, certain medications, antibiotics and in some cases, organ transplantation. Medication treatment consists cobalamin (vitamin B12) given as an injection, carnitine, and antibiotics. The diet is protein restricted to limit the intake of isoleucine, threonine, methionine, and valine because these substances can turn into methylmalonic acid in an affected patient. Most patients also need to take a special formula missing certain amino acids but containing others to make sure they are getting enough protein for growth. Each patient needs an individually adjusted diet and medication regimen.

'Methylmalonic Acidaemia- Pipeline Insight, 2025' report outlays comprehensive insights of present scenario and growth prospects across the indication. A detailed picture of the Methylmalonic Acidaemia pipeline landscape is provided which includes the disease overview and Methylmalonic Acidaemia treatment guidelines. The assessment part of the report embraces, in depth Methylmalonic Acidaemia 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, Methylmalonic Acidaemia 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 Methylmalonic Acidaemia R&D. The therapies under development are focused on novel approaches to treat/improve Methylmalonic Acidaemia.

Methylmalonic Acidaemia Emerging Drugs Chapters

This segment of the Methylmalonic Acidaemia report encloses its detailed analysis of various drugs in different stages of clinical development, including phase 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.

Methylmalonic Acidaemia Emerging Drugs

HST5040: HemoShear Therapeutics

HST5040 is an investigational oral small molecule therapy being developed by HemoShear to reduce the levels of toxins associated with methylmalonic acidemia (MMA) and propionic acidemia (PA), rare genetic disorders caused by the deficiency of certain enzymes required to metabolize amino acids. HST5040 is formulated for convenient daily administration at home as a liquid taken either orally or through a gastrostomy tube. The FDA has granted HST5040 Orphan Drug, Fast Track and Rare Pediatric Disease designations for the treatment of MMA and PA.Currently, the drug is in Phase II stage of Clinical trial evaluation for the treatment of Methylmalonic Acidemia.

Methylmalonic Acidaemia: Therapeutic Assessment

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

Major Players in Methylmalonic Acidaemia

There are approx. 4+ key companies which are developing the therapies for Methylmalonic Acidaemia.

Phases

The report covers around 4+ 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

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

• Intra-articular
• Intraocular
• Intrathecal
• Intravenous
• Ophthalmic
• Oral
• Parenteral
• Subcutaneous
• Topical
• Transdermal

Molecule Type

Products have been categorized under various Molecule types such as

• Oligonucleotide
• Peptide
• Small molecule

Product Type

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

Methylmalonic Acidaemia: Pipeline Development Activities

The report provides insights into different therapeutic candidates in phase II, I, preclinical and discovery stage. It also analyses Methylmalonic Acidaemia 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 Methylmalonic Acidaemia drugs.

Methylmalonic Acidaemia Report Insights

• Methylmalonic Acidaemia Pipeline Analysis
• Therapeutic Assessment
• Unmet Needs
• Impact of Drugs

Methylmalonic Acidaemia 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 Methylmalonic Acidaemia drugs?
• How many Methylmalonic Acidaemia drugs are developed by each company?
• How many emerging drugs are in mid-stage, and late-stage of development for the treatment of Methylmalonic Acidaemia?
• What are the key collaborations (Industry-Industry, Industry-Academia), Mergers and acquisitions, licensing activities related to the Methylmalonic Acidaemia 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 Methylmalonic Acidaemia and their status?
• What are the key designations that have been granted to the emerging drugs?

Key Players

• VectivBio AG
• CoA Therapeutics, Inc.

HemoShear Therapeutics

• ModernaTX, Inc.

Key Products

• VB-1197
• BBP-671
• HST5040
• mRNA-3705

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