Ataxia-Telangiectasia Disease

Published Date : Jan 2024
Category : Genetic Diseases
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"Unlocking the Mysteries of Ataxia-Telangiectasia: A Systematic Analysis of Symptoms, Causes, and Promising Research"

In the arena of uncommon and intricate genetic illnesses, Ataxia-Telangiectasia (A-T) presents a significant challenge to both medical researchers and healthcare practitioners. A-T is a complex conundrum that requires careful investigation because it is characterized by a confluence of immune system failure, neurological impairments, and a propensity for cancer.

According to NIH, between 1:40,000 to 1:100,000 is the incidence of A-T. In certain groups, the ailment is as uncommon as 1 in 300,000. The ATM gene mutation is carried by around 1% of people in the US. Equally impacted by A-T are men and women. Atherosclerosis telangiectasia is the most prevalent hereditary ataxia that manifests in the first ten years of life. It is the second most frequent autosomal recessive ataxia in children, following Friedreich's ataxia. Numerous populations, particularly the Jewish community in North Africa, have documented a notable founder impact.

Ataxia-Telangiectasia (AT) is a multifaceted neurodegenerative disease. It is also known as Louis-Bar Syndrome. Typically, between the ages of one and four, throughout the preschool years, symptoms related to AT emerge. AT frequently manifests as ataxia, or an unstable stride. An inability to coordinate eye movements (oculomotor apraxia) and episodes of uncontrollable movements (choreoathetosis) are two symptoms that set AT apart from other illnesses. Cerebellar degeneration is linked to the progression of ataxia, and many school-age children with AT require wheelchair assistance.

Children with AT have telangiectasias, or dilated blood vessels, in their skin, eyes, or mucous membranes. The most prevalent kind of telangiectasias, ocular telangiectasias, often manifest between the ages of 4 and 6. Many patients with AT have impaired immune system functioning, often known as cellular and humoral immunodeficiency, and many of them are more susceptible to lung and sinus infections. Additionally, those who have AT are more likely to develop some cancers, especially lymphomas, leukemias, and solid organ tumors in their early adult years as well as throughout the first two decades of life.


Pathogenic variations, or mutations, in the ATM gene are the cause of AT. Protein kinase with serine/threonine coding is encoded by the ATM gene. An enzyme known as a kinase is a biological catalyst that accelerates the phosphate group addition process to other molecules.

Oxidative stress in the cell also causes the ATM proteins to become active. The ATM gene is mutated in AT patients in a way that impacts the kinase activity and functionality of the ATM protein. As a result, the signaling networks that react to DNA double strand breaks or a decrease in oxidative stress are flawed. Some symptoms of AT are brought on by mutations in the ATM gene that result in an ATM protein that is faulty.

As an autosomal recessive condition, AT is inherited. A single gene is often inherited in two copies, one from each father. Being a recessive disorder, AT only manifests in a person who carries two copies of the faulty gene.

AT does not occur in individuals with one mutant gene and one normal gene. These peoples are referred as carriers. An ATM mutation is thought to affect one person out of every 100. Compared to people without any ATM gene mutations, carriers have a higher risk of cancer and heart disease even when they do not have AT. AT carriers pass on the mutated gene to their offspring, although they usually do not exhibit any symptoms.


  • Reduced motor coordination in late childhood, also known as ataxia, which manifests as jerky, unsteady, or ataxic gait (cerebellar ataxia).
  • Mental development slows or ceases about the age of ten or twelve.
  • Walking slowly
  • Skin discoloration in sunburned areas skin discoloration (coffee with milk-colored blotches)
  • Vascular enlargement in the nose, ears, and inside the elbow and knee
  • increased blood vessel size in the eye's whites
  • Late in the disease, jerky, or irregular eye movements (nystagmus)
  • Early onset of gray hair
  • Seizures
  • Radiation sensitivity, especially with x-rays
  • severe respiratory infections with recurrent episodes.

Many conditions have symptoms or test results that are comparable to those of AT. Usually associated with the loss of motor capabilities are these symptoms.

Diagnostic Analysis of Ataxia-Telangiectasia

A physical evaluation of the patient's symptoms is the first step in the diagnosis of ataxia-telangiectasia. Imaging and blood tests are then performed to confirm the genetic mutation causing the symptoms.

Laboratory Test

Blood Test- Although it is not limited to A-T, elevated alpha-fetoprotein is a distinctive hallmark of this disease. Additionally, blood tests reveal a drop in IgG and IgA concentrations overall as well as varying IgM levels.

Genetic Test- The identification of homozygous or compound heterozygous mutations in the ATM gene—which is using targeted sequencing, sequencing included in ataxia panels, or whole-exome sequencing—is the final step towards the diagnosis of A-T. This test is also called the Karyotype test. When a new gene variant is discovered, immunoblotting of the ATM protein is carried out to verify whether the mutation results in a notable decrease in ATM levels.

Magnetic Resonance Imaging

One useful tool for identifying potential causes is brain MRI. In some cases, ataxia sufferers' MRIs reveals cerebellar and other brain structural reduction. It also reveals additional discoveries that are curable, including a benign tumor or blood clot.

Lumbar puncture

This is a useful test for ataxia in certain instances. A little sample of cerebrospinal fluid is taken by inserting a needle between two lumbar bones (vertebrae) in the lower back. The fluid that envelops and shields your spinal cord and brain is transported to a lab for analysis.

Diagnostic Market players:

Diagnostic Market players

Diagnostic Products


SURTEX® Quincke

Avanos Medical

BD® Quincke spinal needles

ICU Medical

BD® spinal kits and sets

Cardinal Health


LSL Healthcare, Inc.

GE Discovery MR450

Rocket Medical

Magnifico Open 0.4 T

Busse Hospital Disposables


Boston Scientific Corporation


Stryker Corporation


Medtronic plc.




EXELINT International, Co.


APC International, Ltd. (U.S.)


Becton, Dickinson, and Company (BD)


Foundation Medicine, Inc.


Danaher Corporation


Genomic Health, Inc.


F. Hoffmann-La Roche Ltd


Biocept, Inc.


Canon Medical Systems Corporation


Hitachi, Ltd.


Toshiba Corporation


Siemens Healthineers


GSK plc (U.K.),


Philips Healthcare



Treatment Analysis of Ataxia-Telangiectasia

As there is presently no known cure for AT, treatment focuses on managing symptoms.

Thus, it's critical to treat the disease's particular symptoms and conduct surveillance to avert consequences. Thus, it's critical to treat the disease's particular symptoms and conduct surveillance to avert consequences. There hasn't been a controlled study on the use of medications to lessen AT patients' ataxia symptoms for the past few years. The lack of universal grading scales to evaluate the complicated neurological dysfunction in AT and the varying contributions of various movement disorders to patient morbidity are obstacles to interventional trials. Thus far, there has been no success in preventing the initial signs and symptoms of AT.

Following are some treatment approaches based on the symptoms of AT:

  • Managing neurological symptoms is challenging. L-DOPA derivatives, dopamine antagonists, and anticholinergics are all used to treat basal ganglia dysfunction. Buspirone, fluoxetine, and amantadine helps with speech, coordination, and loss of balance. Gabapentin, clonazepam, and propranolol are medications that is used to treat tremors.
  • Treatment with antibiotics when clinically warranted and chest physical therapy are two effective choices for treating respiratory infections. For certain kids, regular use of a cough assisted device and bronchodilator medication helps to clear their airways. Chronic infections and/or low IgG levels are frequently treated with IVIG replacement treatment. Because affected patients have trouble swallowing, gastrostomy tube (G-tube) feedings are frequently advised to prevent asphyxiation (choking).
  • Careful observation is necessary throughout treatment for AT's subsequent symptoms, such as malignancy. Chemotherapy and radiation cause more sensitivity in AT individuals. If these medications are not used properly, patients with AT become toxic or die. To account for this increased sensitivity, chemotherapy doses are lowered by 25–50% while maintaining extended recovery times. Careful observation is necessary during surgery, particularly about breathing and eating, as anesthesia have a negative effect on afflicted individuals. Telangiectasia’s, or dilated blood vessels, is controlled in terms of severity and spread by limiting exposure to the sun.

Regulatory Framework

  • The FDA approved Reata Pharmaceuticals, Inc.’s first medicine, SKYCLARYSTM (Omaveloxolone), on February 28, 2023, for the treatment of Ataxia. The European Medicines Agency is currently reviewing the medication in Europe.
  • Seelos Therapeutics' investigational new drug (IND) application for trehalose to treat spinocerebellar ataxia (SCA) was approved by the FDA in December 2021. Trehalose has already been approved as an Orphan Drug for spinocerebellar ataxia type 3 (SCA3), but the FDA has granted the program Fast Track status for SCA. Trehalose is infused intravenously at a dose of 90.5 mg/ml.

Recent Developments

  • To find treatments for uncommon neurodegenerative diseases like ataxia, Healx partnered with Friedreich's Ataxia Research Alliance (FARA), a non-profit in the United States, and Ataxia UK, the top charity in the United Kingdom for ataxia sufferers. This partnership was established in April 2021.
  • Merck KGaA completed the construction of their new viral vector contract development production facility in October 2021. When diagnosing rare diseases like ataxia, gene therapies are typically highly beneficial.
  • In November 2022, Pfizer Inc. declared that it had successfully completed the acquisition of Arena Pharmaceuticals. This clinical-stage business is developing cutting-edge potential treatments for a range of inflammatory immune disorders. The company has been able to increase the range of products it offers thanks to this acquisition.

Clinical Trial Assessment

The DiseaseLandscape Insights consultancy firm provides valuable support in future market trends on the development of new pharmaceutical products. This support helps to streamline the planning and execution of clinical trials of novel medications and treatments, implement effective patient recruitment strategies, ensure regulatory compliance, and increase the likelihood of successful trial outcomes.

The below table gives information about some currently ongoing clinical trials, including their study titles and respective stages:

Phase 1

Phase 2

Phase 3

Testing the Combination of the Anti-Cancer Drugs Temozolomide and M1774 to Evaluate Their Safety and Effectiveness

N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)

The Cancer of the Pancreas Screening-5 CAPS5)Study

A Study of ART0380 for the Treatment of Advanced or Metastatic Solid Tumors

Testing the Combination of the Anti-Cancer Drugs Temozolomide and M1774 to Evaluate Their Safety and Effectiveness


A Study to Assess the Safety and Tolerability of AZD1390 Given with Radiation Therapy in Patients with Brain Cancer

A Study of ART0380 for the Treatment of Advanced or Metastatic Solid Tumors


M1774 in Combination with Cemiplimab in Participants with Non-Squamous NSCLC (DDRiver NSCLC 322)

A Study of Reduced-dose Radiation in People with Metastatic Tumors with a Genetic Change



M1774 in Combination with Cemiplimab in Participants with Non-Squamous NSCLC (DDRiver NSCLC 322)




DiseaseLandscape Insights (DLI) helps companies build and run effective strategies to prevent and control ACC epidemics. Furthermore, as awareness and anticipated epidemics grow, there is a growing demand for diagnostic tools, clinical evaluations, and novel therapeutics.

Major players involved in the production of medicinal items benefit from the information and experience provided by DiseaseLandscape Insights. The assistance provided by DLI facilitates patient recruitment strategies, regulatory compliance, and the planning and execution of clinical trials for novel medications and pharmaceuticals.

This ultimately motivates the leaders to conduct qualitative research, investigate manufacturing companies, and find out about raw material sources. All industry participants gain a stronger position in Ataxia-Telangiectasia disease and keep one step ahead with the help of DiseaseLandscape Insights.

Vishal SawantBusiness Development

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