Evicenter
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Aqneursa (levacetylleucine)

Ataxia-telangiectasia

Also known as IB1001
Manufacturer
IntraBio
Last updated
206 sources

Product information and disease descriptionPlace of product in therapyDisease descriptionBurden of Ataxia-telangiectasia

Economic impact of diagnostic testing

8 evidence topics · 9 sources

Cost of diagnostic testing specific to ataxia-telangiectasia

No evidence found.

Molecular genetic testing that establishes the diagnosis

“The diagnosis of A-T is established in a proband with suggestive findings and biallelic pathogenic (or likely pathogenic) variants in ATM identified by molecular genetic testing” (opens the source at this quote in a new tab)

MethodProportion of pathogenic variants identified
Sequence analysis“90%-95%”
Deletion/duplication analysis“5%-10%”
Diagnostic confirmation required for entry to the pivotal trial

“To be eligible for the study, patients had to be aged 4 years or older with a confirmed diagnosis of A-T.” (opens the prescribing information at this quote)

“Eligible patients were aged 4 years or older with a genetically confirmed diagnosis of ataxia-telangiectasia” (opens the source at this quote in a new tab)

Sequential genetic testing in inherited ataxia

“These investigations and the associated clinic visits incur substantial costs.” (opens the source at this quote in a new tab)

“For example, patients requiring genetic testing often undergo sequential testing for multiple genes or costly next-generation sequencing before a diagnosis is identified [9].” (opens the source at this quote in a new tab)

Delay between symptom onset and diagnosis

“All 13 AT patients initially presented with symptoms of ataxia and abnormal gait between ages 12 months and 8 years (median 17 months). Patients experienced a delay from 2 months to 10 years between onset of symptoms and AT diagnosis, which occurred between ages 1.5 and 12 years (median age 3 years 5 months).” (opens the source at this quote in a new tab)

“From the experience of our national reference center for A-T at the Radboud University Medical Center, we know that the diagnostic process for A-T may take a long time and may include many procedures, e.g., lumbar punctures, muscle biopsies, and diagnostic x-rays (which are potentially harmful in the context of a DNA-repair disorder).” (opens the source at this quote in a new tab)

Yield of newborn screening for severe combined immunodeficiency

“NBS for SCID most likely identifies about 50% of children with classic A-T” (opens the source at this quote in a new tab)

“Since variant A-T is not associated with immunodeficiencies, NBS for SCID does not detect variant A-T.” (opens the source at this quote in a new tab)

“Of 13 older AT patients for whom newborn DBS had been stored, 7 samples tested positive for SCID under the criteria of California’s newborn screening program.” (opens the source at this quote in a new tab)

“Four patients were diagnosed with AT as a result of low TRECs on NBS. In each case, whole exome sequencing was diagnostic.” (opens the source at this quote in a new tab)

“One case was identified per year, while the total rate for SCID has been five new cases per year.” (opens the source at this quote in a new tab)

Views of parents of healthy newborns on early detection, additional tests, hospital visits, and health costs

“A total of 664 of 4,000 parents sent back the questionnaire (response rate 16.6%). The vast majority of parents (81.9%) favored early diagnosis of A-T over late diagnosis.” (opens the source at this quote in a new tab)

Statement rated by parentsAgree (%)Fully agree (%)Rating mean (SD)
“Early detection of A-T prevents unnecessary additional tests”“51.5”“24.3”“3.9 (0.93)”
“Early detection of A-T prevents multiple visits to the hospital”“42.5”“20.3”“3.6 (1.05)”
“Early detection of A-T saves extra health costs”“36.3”“12.6”“3.3 (1.10)”
Views of parents of affected children on early diagnosis

“Twenty-six (74%) parents felt that the advantages of an early diagnosis outweighed the disadvantages, five parents thought that the disadvantages would outweigh the advantages (14%), and four parents did not indicate a preference.” (opens the source at this quote in a new tab)

“The majority of parents of a child with A-T would have preferred an early diagnosis during the asymptomatic phase of the disease, because the uncertainty during the diagnostic process had had a major impact on their lives.” (opens the source at this quote in a new tab)

Antenatal diagnosis and carrier detection within affected families

“Antenatal diagnosis and carrier detection can be cost effectively performed in families if the ATM mutations in an affected child have been identified.” (opens the source at this quote in a new tab)