Ataxia-Telangiectasia (A-T)Phase 2NCT07820579
Sirolimus Treatment in Pediatric Patients With Ataxia-Telangiectasia
A Phase 2 study testing Rapamune (sirolimus/rapamycin) in people with Ataxia-Telangiectasia (A-T) and Ataxia-Telangiectasia, run by Sara Elva Espinosa Padilla, MD at 1 site in Mexico.
Trial summary
Ataxia-telangiectasia (A-T) is a progressive disease which is, to date, incurable, affecting motor skills, and a high cancer and recurrent infections risk. Although there has been great progress in recent years in understanding its pathophysiology, we have little information that produces any benefit for its… Read more about this study
- Who is it for?
- Ages Up to 16 years
- Conditions the study is for
- Ataxia-Telangiectasia (A-T), Ataxia-Telangiectasia
- What is being tested?
- Rapamune (sirolimus/rapamycin)
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 6 participants
- Where
- 1 siteMexico
- Study dates
- 11 Jul 2024to 20 Aug 2026
- Phase
- Phase 2
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 16 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Patients younger than 17 years with a clinical and genetic diagnosis of ataxia telangiectasia (A-T).
- Written informed consent obtained from parents or legal guardians.
Who cannot join
- Concomitant oncologic or hematologic diagnosis.
- Current treatment with immunosuppressive agents.
Trial locations and contacts
1 site in 1 country.
Mexico1 site
Instituto Nacional de Pediatría IRB
Mexico City, Mexico City, 3700
About this study
Official title: Immunological, Dermatological, and Neurological Effects of Sirolimus in Ataxia-Telangiectasia
Ataxia-telangiectasia (A-T) is a progressive disease which is, to date, incurable, affecting motor skills, and a high cancer and recurrent infections risk. Although there has been great progress in recent years in understanding its pathophysiology, we have little information that produces any benefit for its treatment. Thus, Sirolimus has a wide variety of potential mechanisms of action that could be beneficial in A-T, including neuroprotective effects, antiangiogenic, anti-infectious, antineoplastic, and aging slower. With that aim, we conducted a pilot study in our hospital evaluating the safety and potential benefit of sirolimus in the disease.
- Conditions
- Ataxia-Telangiectasia (A-T), Ataxia-Telangiectasia
- Being tested
- Rapamune (sirolimus/rapamycin)
- Keywords
- Sirolimus, Rapamycin, ATM, mTOR, Telangiectasia, Inborn error of immunity, Ataxia
- Medical subject headings
- Ataxia Telangiectasia, Telangiectasis, Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Rapamune (sirolimus/rapamycin)Drug
Also called Sirolimus
After baseline evaluation, oral sirolimus was initiated at a dose of 1 mg/m²/day divided into two daily doses. Treatment duration was 6 months, safety was assessed throughout the trial.
| Study group | Role | What they receive |
|---|---|---|
| Sirolimus Treatment | Experimental | After baseline evaluation, oral sirolimus was initiated at a dose of 1 mg/m²/day divided into two daily doses. Treatment duration was 6 months, safety was assessed throughout the trial. Laboratory studies and adverse events were assessed every 2 months. Receives: Drug: Rapamune (sirolimus/rapamycin) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Adverse effects and laboratory safety after treatment
After baseline evaluation, oral sirolimus was initiated at a dose of 1 mg/m²/day divided into two daily doses. Treatment duration was 6 months, safety was assessed throughout the trial. Laboratory studies and adverse events were assessed every 2 months.
Measured: From enrollment to the end of treatment at 6 months
Secondary outcomes (7)
Neurological function assessed by the Scale for the Assessment and Rating of Ataxia
Neurological function was assessed using the Scale for the Assessment and Rating of Ataxia (SARA). Total scores range from 0 to 40 points, with higher scores indicating greater severity of ataxia. Scores were assessed at baseline and after 6 months of sirolimus treatment.
Measured: From enrollment to the end of treatment at 6 months
Immunological and laboratory evaluation
Baseline and follow-up immunological assessments were performed every 2 months and included serum immunoglobulin levels and lymphocyte subpopulation analysis. Lymphocyte proliferation was assessed using CFSE labeling (C34554; molecular probes). In brief, peripheral blood mononuclear cells (PBMCs) were isolated by Ficoll-Paque density gradient centrifugation and labeled with carboxifluorescein succinimidyl ester (CFSE). Cells were then stimulated with anti-CD3 (clone OKT3) plus anti CD28 (clone CD28.2) monoclonal antibodies (1µg/ml each). In parallel, PBMCs were stimulated with phytohemagglutinin (PHA) plus interleukin 2 (IL-2). Lymphocyte proliferation was quantified by flow cytometric analysis of CFSE dilution. Expression of the ATM protein was assessed in peripheral blood mononuclear cells by Western blot analysis.
Measured: From enrollment to the end of treatment at 6 months
Percentage of conjunctival vascular area
Conjunctival telangiectasia was assessed using standardized digital photographs. It was quantified as the percentage of segmented vascular area relative to the total conjunctival region of interest. Measurements were obtained at baseline and after 6 months of sirolimus treatment.
Measured: From enrollment to the end of treatment at 6 months
Image Analysis
Conjunctival photographs were analyzed using Fiji (ImageJ version 2.16.0/1.54p). The conjunctival region of interest (ROI) was manually delineated, excluding eyelids, eyelashes, and surrounding background, and the total ROI area was measured in pixels. Color segmentation was performed using the Color Threshold function in the HSB color space with fixed parameters: Hue, 0-25; Saturation, 110-255; and Brightness, 90-255. Images were converted into binary masks, and the segmented vascular area within the ROI was measured in pixels. Conjunctival telangiectasia was expressed as the percentage of segmented vascular area relative to the total conjunctival ROI area. All images were analyzed by the same investigator using an identical workflow and fixed thresholding parameters.
Measured: From enrollment to the end of treatment at 6 months
Cognitive performance assessed by the Cerebellar Cognitive Affective Syndrome Scale
Cognitive performance was assessed using the Cerebellar Cognitive Affective Syndrome Scale (CCAS). The total raw score ranges from 0 to 120 points, with higher scores indicating better cognitive performance. Assessments were performed at baseline and after 6 months of sirolimus treatment.
Measured: From enrollment to the end of treatment at 6 months
Executive functioning assessed by the Behavior Rating Inventory of Executive Function, Second Edition
Everyday executive functioning was assessed using the Behavior Rating Inventory of Executive Function, Second Edition (BRIEF-2). The Global Executive Composite was analyzed using T-scores, with higher scores indicating greater executive dysfunction. Assessments were performed at baseline and after 6 months of sirolimus treatment.
Measured: From enrollment to the end of treatment at 6 months
Emotional and behavioral functioning assessed by the Child Behavior Checklist
Emotional and behavioral functioning was assessed using the Child Behavior Checklist (CBCL). The Total Problems score was analyzed using T-scores, with higher scores indicating greater emotional and behavioral problems. Assessments were performed at baseline and after 6 months of sirolimus treatment.
Measured: From enrollment to the end of treatment at 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Sep 2026
- Study start11 Jul 2024
- Primary completion13 May 2026
- Study completion20 Aug 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Ataxia-Telangiectasia (A-T)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 6 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sara Elva Espinosa Padilla, MD
- Sponsor type
- Other government
- Responsible party
- Sponsor-investigator, Sara Elva Espinosa Padilla, MD, National Institute of Pediatrics, Mexico
- Investigators
- Sara Espinosa Padilla, MD, Study director
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07820579
- Sponsor's protocol ID
- 2024/028
- Status last verified
- Sep 2026
- First submitted
- 4 Sep 2026
- Last updated
- 15 Sep 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Immunological, Dermatological, and Neurological Effects of Sirolimus in Ataxia-Telangiectasia
- ClinicalTrials.gov ID
- NCT07820579
- Acronym / sponsor ID
- 2024/028
- Conditions
- Ataxia-Telangiectasia (A-T), Ataxia-Telangiectasia
- Keywords
- Sirolimus, Rapamycin, ATM, mTOR, Telangiectasia, Inborn error of immunity, Ataxia
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 6 participants (actual)
- Lead sponsor
- Sara Elva Espinosa Padilla, MDOther government
- Study start
- 11 Jul 2024 (actual)
- Primary completion
- 13 May 2026 (actual)
- Study completion
- 20 Aug 2026 (actual)
- First posted
- 15 Sep 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Ataxia-telangiectasia (A-T) is a progressive disease which is, to date, incurable, affecting motor skills, and a high cancer and recurrent infections risk. Although there has been great progress in recent years in understanding its pathophysiology, we have little information that produces any benefit for its treatment. Thus, Sirolimus has a wide variety of potential mechanisms of action that could be beneficial in A-T, including neuroprotective effects, antiangiogenic, anti-infectious, antineoplastic, and aging slower. With that aim, we conducted a pilot study in our hospital evaluating the safety and potential benefit of sirolimus in the disease.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Sirolimus Treatment | Experimental | Drug: Rapamune (sirolimus/rapamycin)After baseline evaluation, oral sirolimus was initiated at a dose of 1 mg/m²/day divided into two daily doses. Treatment duration was 6 months, safety was assessed throughout the trial. Laboratory studies and adverse events were assessed every 2 months. |
Who may qualify
- Ages
- Up to 16 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (2 listed)
- Patients younger than 17 years with a clinical and genetic diagnosis of ataxia telangiectasia (A-T).
- Written informed consent obtained from parents or legal guardians.
Key exclusion criteria (2 listed)
- Concomitant oncologic or hematologic diagnosis.
- Current treatment with immunosuppressive agents.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Rapamune (sirolimus/rapamycin)Also: SirolimusAfter baseline evaluation, oral sirolimus was initiated at a dose of 1 mg/m²/day divided into two daily doses. Treatment duration was 6 months, safety was assessed throughout the trial. | Drug | Sirolimus Treatment |
Primary outcome
Adverse effects and laboratory safety after treatment
Time frame: From enrollment to the end of treatment at 6 months
After baseline evaluation, oral sirolimus was initiated at a dose of 1 mg/m²/day divided into two daily doses. Treatment duration was 6 months, safety was assessed throughout the trial. Laboratory studies and adverse events were assessed every 2 months.
7 secondary outcomes
Neurological function assessed by the Scale for the Assessment and Rating of Ataxia
Time frame: From enrollment to the end of treatment at 6 months
Immunological and laboratory evaluation
Time frame: From enrollment to the end of treatment at 6 months
Percentage of conjunctival vascular area
Time frame: From enrollment to the end of treatment at 6 months
Image Analysis
Time frame: From enrollment to the end of treatment at 6 months
Cognitive performance assessed by the Cerebellar Cognitive Affective Syndrome Scale
Time frame: From enrollment to the end of treatment at 6 months
Executive functioning assessed by the Behavior Rating Inventory of Executive Function, Second Edition
Time frame: From enrollment to the end of treatment at 6 months
Emotional and behavioral functioning assessed by the Child Behavior Checklist
Time frame: From enrollment to the end of treatment at 6 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Sep 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Sara Espinosa Padilla, MD study director
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Rapamune (sirolimus/rapamycin) in people with Ataxia-Telangiectasia (A-T) and Ataxia-Telangiectasia, run by Sara Elva Espinosa Padilla, MD at 1 site in Mexico.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 15 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Mexico. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Adverse effects and laboratory safety after treatment (time frame: From enrollment to the end of treatment at 6 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Sep 2026.