Ataxia Telangiectasia
Conditions
Keywords
Ataxia Teleangiectasia, Spirometry, Respiratory rare diseases
Brief summary
Rationale: Forced spirometry maneuvers are not routinely performed in patients with Ataxia Telangiectasia (A-T), even though they suffer from respiratory illnesses. Objectives: To study the feasibility and validity of forced spirometry in A-T patients. Methods: Patients will perform spirometry during clinical visits. Parameters studied will be technical quality, relation to predicted values, age, pulmonary illness, body mass index, mutational status and mutation.
Interventions
None listed
Sponsors
Study design
Eligibility
Inclusion criteria
* Patients with proven Ataxia Telangiectasia
Exclusion criteria
* inability to perform spirometry
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| spirometry measurements | 3 years |
Countries
Israel