Angelman Syndrome - Pipeline Insight, 2024

This “Angelman Syndrome- Pipeline Insight, 2024” report provides comprehensive insights about 10+ companies and 10+ pipeline drugs in Angelman Syndrome 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

Angelman Syndrome: Understanding

Angelman Syndrome: Overview

Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide. It is caused by a loss of function of the UBE3A gene in the 15th chromosome derived from the mother. Angelman syndrome (AS) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and unique behavior with an apparent happy demeanor that includes frequent laughing, smiling, and excitability. Angelman syndrome (AS) is characterized by severe developmental delay and intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavior with an apparent happy demeanor that includes frequent laughing, smiling, and excitability. Microcephaly and seizures are also common. Developmental delays are first noted at around age six months; however, the unique clinical features of AS do not become manifest until after age one year. Deficiency of the E3 ubiquitin protein ligase (UBE3A) gene expression causes Angelman syndrome. The gene is located in chromosome region 15 (15q11-q13). The abnormalities of UBE3A that can cause Angelman syndrome involve absence of the gene, changes in the structure of the gene, or changes in the function or expression of the gene. In approximately 70-75 percent of cases there is a microdeletion of region 15q11-13 of the maternally-derived chromosome 15 that includes deletion of the UBE3A gene. The diagnosis of AS is established in a proband who meets the consensus clinical diagnostic criteria and/or who has findings on molecular genetic testing that suggest deficient expression or function of the maternally inherited UBE3A allele. Analysis of parent-specific DNA methylation imprints in the 15q11.2-q13 chromosome region detects approximately 80% of individuals with AS, including those with a deletion, uniparental disomy, or an imprinting defect; fewer than 1% of individuals have a cytogenetically visible chromosome rearrangement (e.g., translocation or inversion). UBE3A sequence analysis detects pathogenic variants in an additional approximately 11% of individuals. Anti-seizure medication for seizures. Accommodation for hypermotoric behaviors and disruptive nighttime wakefulness. Behavior modification can be effective for disruptive or self-injurious behaviors. Physical therapy, occupational therapy, and speech therapy with an emphasis on nonverbal methods of communication, including augmentative communication aids (e.g., picture cards, communication boards) and signing. Individualization and flexibility in school settings.

Angelman Syndrome- Pipeline Insight, 2024 report outlays comprehensive insights of present scenario and growth prospects across the indication. A detailed picture of the Angelman Syndrome pipeline landscape is provided which includes the disease overview and Angelman Syndrome treatment guidelines. The assessment part of the report embraces, in depth Angelman Syndrome 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, Angelman Syndrome 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 Angelman Syndrome R&D. The therapies under development are focused on novel approaches to treat/improve Angelman Syndrome.

Angelman Syndrome Emerging Drugs Chapters

This segment of the Angelman Syndrome 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.

Angelman Syndrome Emerging Drugs

NNZ-2591: Neuren Pharmaceuticals NNZ-2591 is an analog of cyclic glycine proline, a peptide (small protein) that exists naturally in the brain and is important for the development of neurons (nerve cells). NNZ-2591 was tested in the ube3a knockout mouse model, which resembles features of Angelman syndrome in humans and includes motor deficits, learning problems and alterations in synaptic connectivity and plasticity. The study compared normal mice and knockout mice with a disrupted gene. In the knockout mice, treatment with NNZ-2591 for 6 weeks normalized the deficits in all the tests of anxiety, daily living, sociability, motor performance and cognition as well as eliminating seizures.

GTX-102: Ultragenyx Pharmaceutical GTX-102 is an investigational antisense oligonucleotide (ASO) therapy designed to inhibit expression of UBE3A-AS in order to prevent silencing of the paternally inherited allele of the UBE3A gene and reactivate expression of the deficient protein. GTX-102 is delivered as an intrathecal infusion. A Phase 1/2 study evaluating the tolerability and safety of GTX-102 and its effect on all major domains of the AS in pediatric patients is currently ongoing in the U.S., U.K. andCanada.

Angelman Syndrome: Therapeutic Assessment

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

Major Players in Angelman Syndrome

There are approx. 10+ key companies which are developing the therapies for Angelman Syndrome. The companies which have their Angelman Syndrome drug candidates in the most advanced stage, i.e. Phase II include, Neuren Pharmaceuticals.

Phases

This report covers around 10+ 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

Angelman Syndrome 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.

Angelman Syndrome: Pipeline Development Activities

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

Angelman Syndrome Report Insights

• Angelman Syndrome Pipeline Analysis
• Therapeutic Assessment
• Unmet Needs
• Impact of Drugs

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

Key Players

• Neuren Pharmaceuticals
• Ultragenyx Pharmaceutical
• Ionis Pharmaceuticals
• Roche
• GEXVal
• PTC Therapeutics
• Taysha Gene Therapies
• Ovid Therapeutics

Key Products

• NNZ-2591
• GTX-102
• ION582
• GXV-001
• RG 6091
• GT-AS
• AAV-mediated UBE3A Gene Replacement therapy
• OV 882

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