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

Primary Purpose

Ataxia Telangiectasia, Louis Bar Syndrome

Status
Recruiting
Phase
Phase 2
Locations
International
Study Type
Interventional
Intervention
IB1001
Sponsored by
IntraBio Inc
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional treatment trial for Ataxia Telangiectasia

Eligibility Criteria

6 Years - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

Inclusion Criteria

Individuals who meet all of the following criteria are eligible to participate in the study:

  1. Written informed consent signed by the patient and/or their legal representative/ parent
  2. Male or female aged ≥6 years with a confirmed diagnosis of A-T at the time of signing informed consent.
  3. Females of childbearing potential, defined as a premenopausal female capable of becoming pregnant, will be included if they are either sexually inactive (sexually abstinent for 14 days prior to the first dose continuing through 28 days after the last dose) or using one of the following highly effective contraceptives (i.e. results in <1% failure rate when used consistently and correctly) 14 days prior to the first dose continuing through 28 days after the last dose:

    1. intrauterine device (IUD);
    2. surgical sterilization of the partner (vasectomy for 6 months minimum);
    3. combined (estrogen or progestogen containing) hormonal contraception associated with the inhibition of ovulation (either oral, intravaginal, or transdermal);
    4. progestogen-only hormonal contraception associated with the inhibition of ovulation (either oral, injectable, or implantable);
    5. intrauterine hormone-releasing system (IUS);
    6. bilateral tubal occlusion.
  4. Females of non-childbearing potential must have undergone one of the following sterilization procedures at least 6 months prior to the first dose:

    1. hysteroscopic sterilization;
    2. bilateral tubal ligation or bilateral salpingectomy;
    3. hysterectomy;
    4. bilateral oophorectomy;

    OR

    be postmenopausal with amenorrhea for at least 1 year prior to the first dose and follicle stimulating hormone (FSH) serum levels consistent with postmenopausal status. FSH analysis for postmenopausal women will be done at screening. FSH levels should be in the postmenopausal range as determined by the central laboratory.

  5. Non-vasectomized male patient agrees to use a condom with spermicide or abstain from sexual intercourse during the study until 90 days beyond the last dose of study medication and the female partner agrees to comply with inclusion criteria 3 or 4. For a vasectomized male who has had his vasectomy 6 months or more prior to study start, it is required that they use a condom during sexual intercourse. A male who has been vasectomized less than 6 months prior to study start must follow the same restrictions as a non-vasectomized male.
  6. If male, the patient agrees not to donate sperm from the first dose until 90 days after dosing.
  7. Patients must fall within:

    a) A SARA score of 5 ≤ X ≤ 33 points (out of 40) AND i. Within the 2-7 range (out of 0-8 range) of the Gait subtest of the SARA scale OR ii. Be able to perform the 9 Hole Peg Test with Dominant Hand (9HPT-D) (SCAFI subtest) in 20 ≤ X ≤150 seconds.

  8. Weight ≥15 kg at screening.
  9. Patients are willing to disclose their existing medications/therapies for (the symptoms) of A-T, including those on the prohibited medication list. Non-prohibited medications/therapies (e.g. concomitant speech therapy, and physiotherapy) are permitted provided:

    1. The Investigator does not believe the medication/therapy will interfere with the study protocol/results
    2. Patients have been on a stable dose/duration and type of therapy for at least 6 weeks before Visit 1 (Baseline 1)
    3. Patients are willing to maintain a stable dose/do not change their therapy throughout the duration of the study.
  10. An understanding of the implications of study participation, provided in the written patient information and informed consent by patients or their legal representative/parent, and demonstrates a willingness to comply with instructions and attend required study visits (for children this criterion will also be assessed in parents or appointed guardians).

Exclusion Criteria

Individuals who meet any of the following criteria are not eligible to participate in the study:

  1. Asymptomatic patients
  2. Patient has clinical features of A-T, but a completely negative result on a previous genetic test for A-T.
  3. Patients who have any of the following:

    1. Chronic diarrhea;
    2. Unexplained visual loss;
    3. Malignancies;
    4. Insulin-dependent diabetes mellitus.
    5. Known history of hypersensitivity to the N-Acetyl-Leucine (DL-, L-, D-) or derivatives.
    6. History of known hypersensitivity to excipients of Ora-Blend® (namely sucrose, sorbitol, cellulose, carboxymethylcellulose, xanthan gum, carrageenan, dimethicone, methylparaben, and potassium sorbate).
  4. Simultaneous participation in another clinical study or participation in any clinical study involving administration of an investigational medicinal product (IMP; 'study drug') within 6 weeks prior to Visit 1.
  5. Patients with a physical or psychiatric condition which, at the investigator's discretion, may put the patient at risk, may confound the study results, or may interfere with the patient's participation in the clinical study.
  6. Known clinically-significant (at the discretion of the investigator) laboratories in hematology, coagulation, clinical chemistry, or urinalysis, including, but not limited to:

    1. Aspartate aminotransferase (AST) or alanine aminotransferase (ALT) >5x upper limit of normal (ULN);
    2. Total bilirubin >1.5x ULN, unless Gilbert's syndrome is present in which case total bilirubin >2x ULN.
  7. Known or persistent use, misuse, or dependency of medication, drugs, or alcohol.
  8. Current or planned pregnancy or women who are breastfeeding.
  9. Patients with severe vision or hearing impairment (that is not corrected by glasses or hearing aids) that, at the investigator's discretion, interferes with their ability to perform study assessments.
  10. Patients who have been diagnosed with arthritis or other musculoskeletal disorders affecting joints, muscles, ligaments, and/or nerves that by themselves affects patient's mobility and, at the investigator's discretion, interferes with their ability to perform study assessments.
  11. Patients unwilling and/or not able to undergo a 6-week washout period from any of the following prohibited medication prior to Visit 1 (Baseline 1) and remain without prohibited medication through Visit 6.

    1. Aminopyridines (including sustained-release form);
    2. N-Acetyl-DL-Leucine (e.g. Tanganil®);
    3. N-Acetyl-L-Leucine (prohibited if not provided as IMP);
    4. Riluzole;
    5. Gabapentin;
    6. Varenicline;
    7. Chlorzoxazone;
    8. Sulfasalazine;
    9. Rosuvastatin.

Sites / Locations

  • University of California - Los AngelesRecruiting
  • University of GiessenRecruiting
  • Ludwig Maximilian University of MunichRecruiting
  • Hospital Universitario La PazRecruiting
  • Royal Papworth Hospital NHS Foundation TrustRecruiting

Arms of the Study

Arm 1

Arm 2

Arm Type

Experimental

No Intervention

Arm Label

Treatment with IB1001

Post-Treatment Washout

Arm Description

6-weeks treatment with IB1001 administered orally. Patients ≥13 years old will receive a total daily dose of 4 g/day (administered as 3 doses per day). Patients 6-12 years old will receive weight-tiered doses: Patients aged 6-12 years weighing 15 to <25 kg will take 2 g per day: 1 g in the morning and 1 g in the evening. Patients aged 6-12 years weighing 25 to <35 kg will take 3 g per day: 1 g in the morning, 1 g in the afternoon, and 1 g in the evening. Patients aged 6-12 years weighing ≥35 kg will take 4 g per day: 2 g in the morning, 1g in the afternoon and 1 g in the evening (as per adults) After the 6-week treatment period, patients will enter a 6-week post-treatment washout period.

After the 6-week treatment period, patients will enter a 6-week post-treatment washout period.

Outcomes

Primary Outcome Measures

Clinical Impression of Change in Severity (CI-CS)
The primary evaluation of the CI-CS will be performed by two independent neurologists whose assessments will be based on videos of the anchor test taken at each visit. These raters will be blinded to the treatment phases and the chronological order of the videos to reduce detection and performance bias. The CI-CS assessment will instruct the blinded rater to consider: 'compared to the first video, how has the severity of their performance on the 9HPT-D or 8MWT changed (improved or worsened) in 6-weeks as observed in the second video?' The CI-CS is evaluated on a 7 point Likert scale (+3=significantly improved to -3= significantly worse).

Secondary Outcome Measures

Spinocerebellar Ataxia Functional Index (SCAFI)
The SCAFI scale is a validated ataxia rating scale and is an objective measure of ataxia and physical functioning which consists of three subscales: the 8 Meter Walk Test (8MWT), the 9-hole peg test with both dominant and non-dominant hands (9HPT-D; 9HPT-ND) and the "PATA" test to measure speech performance. For the 8MWT and 9HPT tests, a lower score/time indicates a clinical improvement. A higher "PATA" test score indicates improvement in speech performance. The SCAFI total score, and three subscales (8MWT, 9HPT-D, and PATA) are reported for statistical analysis.
Change in the Scale for Assessment and Rating of Ataxia (SARA) score
The SARA scale is an eight-item clinical rating scale (gait, stance, sitting, speech, fine motor function and taxis) with a total score range of 0-40, where 0 is the best neurological status and 40 the worst. SARA is a reliable and validated clinical scale with a high internal consistency that measures the severity and progression of ataxia.
EuroQuol- 5 Dimension (EQ-5D) Quality of Life Scale
The EQ-5D is a standardized measure of health status consists of two parts: a multiple-choice questionnaire (descriptive system) and a visual analogue scale. The EQ-5D descriptive system comprises the following 5 dimensions (mobility, self-care, usual activities, pain/discomfort and anxiety/depression). Each dimension has 5 levels: no problems, slight problems, moderate problems, severe problems, and extreme problems.
Investigator's Clinical Global Impressions (CGI)
The CGI Scale is a widely validated scale that long been implemented in neurodegenerative disease trials to provide an index of clinical importance that cannot be obtained from quantitative assessment measures. The CGI comprises of two companion one-item measures evaluating: (A) The severity of the patient's condition and (B) the change from the initiation of treatment. Both measures are evaluated on a 1 to 7 point Likert scale, with 1 indicating the best clinical status and 7 indicating the worst.
Parent/Caregiver's Clinical Global Impressions (CGI)
The CGI Scale is a widely validated scale that long been implemented in neurodegenerative disease trials to provide an index of clinical importance that cannot be obtained from quantitative assessment measures. The CGI comprises of two companion one-item measures evaluating: (A) The severity of the patient's condition and (B) the change from the initiation of treatment. Both measures are evaluated on a 1 to 7 point Likert scale, with 1 indicating the best clinical status and 7 indicating the worst.
Patient's Clinical Global Impressions (CGI) if able
The CGI Scale is a widely validated scale that long been implemented in neurodegenerative disease trials to provide an index of clinical importance that cannot be obtained from quantitative assessment measures. The CGI comprises of two companion one-item measures evaluating: (A) The severity of the patient's condition and (B) the change from the initiation of treatment. Both measures are evaluated on a 1 to 7 point Likert scale, with 1 indicating the best clinical status and 7 indicating the worst.

Full Information

First Posted
November 27, 2018
Last Updated
August 29, 2023
Sponsor
IntraBio Inc
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1. Study Identification

Unique Protocol Identification Number
NCT03759678
Brief Title
N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)
Official Title
Effects of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T): A Multinational, Multicenter, Open-label, Rater-blinded Phase II Study
Study Type
Interventional

2. Study Status

Record Verification Date
August 2023
Overall Recruitment Status
Recruiting
Study Start Date
January 8, 2020 (Actual)
Primary Completion Date
December 1, 2024 (Anticipated)
Study Completion Date
March 1, 2025 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
IntraBio Inc

4. Oversight

Studies a U.S. FDA-regulated Drug Product
Yes
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
Yes

5. Study Description

Brief Summary
This is a multinational, multicenter, open-label, rater-blinded prospective Phase II study which will assess the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the treatment of Ataxia-Telangiectasia (A-T). There are two phases to this study: the Parent Study, and the Extension Phase. The Parent Study evaluates the safety and efficacy of N-Acetyl-L-Leucine (IB1001) for the symptomatic treatment of A-T. The Extension Phase evaluates the long-term safety and efficacy of IB1001 for the neuroprotective, disease-modifying treatment of A-T.
Detailed Description
The primary purpose of the study is to evaluate the safety and efficacy of N-Acetyl-L-Leucine (IB1001) in the treatment of A-T investigating the efficacy in terms of improving symptoms, functioning, and quality of life against the defined endpoints in patients with A-T. Patients will be assessed during three study phases: a baseline period, a 6-week treatment period, and a 6-week post-treatment washout period. If within 6 weeks prior to the initial screening visit, a patient has received any of the prohibited medications defined in the eligibility criteria (irrespective of the preceding treatment duration) a wash-out study-run in of 6 weeks is required prior to the first baseline assessment. All patients will receive the study drug during this study. For each individual patient, the study lasts for approximately 3.5 - 4 months during which there are 6 study visits to the study site. This Extension Phase allows patients who have completed the Parent Study to, at the discretion of the Principal Investigator (PI), continue treatment with N-Acetyl-L-Leucine (IB1001). Patients will receive treatment with IB1001 for two one-year treatment periods, separated by a 6-week washout. All patients will receive the study drug during the treatment period. For each individual patient, the Extension Phase lasts for approximately 25.5 months, during which there are 6 visits to the study site.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Ataxia Telangiectasia, Louis Bar Syndrome

7. Study Design

Primary Purpose
Treatment
Study Phase
Phase 2
Interventional Study Model
Single Group Assignment
Model Description
Patients will be assessed during three study phases: a baseline period (with or without a study run-in), a treatment period, and a washout period.
Masking
Outcomes Assessor
Masking Description
The primary evaluation of the Clinical Impression of Change in Severity (CI-CS; Primary Endpoint) will be performed by two independent neurologists whose assessments are based on videos of patient's performance on either the 9 Hole Peg Test of the Dominant Hand (9HPT-D) or the 8 Meter Walk Test (8MWT) taken at each visit.
Allocation
Non-Randomized
Enrollment
39 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
Treatment with IB1001
Arm Type
Experimental
Arm Description
6-weeks treatment with IB1001 administered orally. Patients ≥13 years old will receive a total daily dose of 4 g/day (administered as 3 doses per day). Patients 6-12 years old will receive weight-tiered doses: Patients aged 6-12 years weighing 15 to <25 kg will take 2 g per day: 1 g in the morning and 1 g in the evening. Patients aged 6-12 years weighing 25 to <35 kg will take 3 g per day: 1 g in the morning, 1 g in the afternoon, and 1 g in the evening. Patients aged 6-12 years weighing ≥35 kg will take 4 g per day: 2 g in the morning, 1g in the afternoon and 1 g in the evening (as per adults) After the 6-week treatment period, patients will enter a 6-week post-treatment washout period.
Arm Title
Post-Treatment Washout
Arm Type
No Intervention
Arm Description
After the 6-week treatment period, patients will enter a 6-week post-treatment washout period.
Intervention Type
Drug
Intervention Name(s)
IB1001
Other Intervention Name(s)
N-Acetyl-L-Leucine
Intervention Description
IB1001 (N-Acetyl-L-Leucine) is a modified amino-acid ester that is orally administered.
Primary Outcome Measure Information:
Title
Clinical Impression of Change in Severity (CI-CS)
Description
The primary evaluation of the CI-CS will be performed by two independent neurologists whose assessments will be based on videos of the anchor test taken at each visit. These raters will be blinded to the treatment phases and the chronological order of the videos to reduce detection and performance bias. The CI-CS assessment will instruct the blinded rater to consider: 'compared to the first video, how has the severity of their performance on the 9HPT-D or 8MWT changed (improved or worsened) in 6-weeks as observed in the second video?' The CI-CS is evaluated on a 7 point Likert scale (+3=significantly improved to -3= significantly worse).
Time Frame
CI-CS comparing Baseline (Day 1) with IB1001 verses the end of 6-weeks treatment with IB1001 (Approximately Day 42) MINUS the CI-CS comparing the end of 6-weeks treatment with IB1001 (Approximately Day 42) verses the end of 6-weeks post-treatment washout
Secondary Outcome Measure Information:
Title
Spinocerebellar Ataxia Functional Index (SCAFI)
Description
The SCAFI scale is a validated ataxia rating scale and is an objective measure of ataxia and physical functioning which consists of three subscales: the 8 Meter Walk Test (8MWT), the 9-hole peg test with both dominant and non-dominant hands (9HPT-D; 9HPT-ND) and the "PATA" test to measure speech performance. For the 8MWT and 9HPT tests, a lower score/time indicates a clinical improvement. A higher "PATA" test score indicates improvement in speech performance. The SCAFI total score, and three subscales (8MWT, 9HPT-D, and PATA) are reported for statistical analysis.
Time Frame
Baseline (Day 1) to end of treatment with IB1001 (Approximately Day 42); End of treatment with IB1001 (Approximately Day 42) to the end of post-treatment washout (Approximately Day 84)
Title
Change in the Scale for Assessment and Rating of Ataxia (SARA) score
Description
The SARA scale is an eight-item clinical rating scale (gait, stance, sitting, speech, fine motor function and taxis) with a total score range of 0-40, where 0 is the best neurological status and 40 the worst. SARA is a reliable and validated clinical scale with a high internal consistency that measures the severity and progression of ataxia.
Time Frame
Baseline (Day 1) to end of treatment with IB1001 (Approximately Day 42); End of treatment with IB1001 (Approximately Day 42) to the end of post-treatment washout (Approximately Day 84)
Title
EuroQuol- 5 Dimension (EQ-5D) Quality of Life Scale
Description
The EQ-5D is a standardized measure of health status consists of two parts: a multiple-choice questionnaire (descriptive system) and a visual analogue scale. The EQ-5D descriptive system comprises the following 5 dimensions (mobility, self-care, usual activities, pain/discomfort and anxiety/depression). Each dimension has 5 levels: no problems, slight problems, moderate problems, severe problems, and extreme problems.
Time Frame
Baseline (Day 1) to end of treatment with IB1001 (Approximately Day 42); End of treatment with IB1001 (Approximately Day 42) to the end of post-treatment washout (Approximately Day 84)
Title
Investigator's Clinical Global Impressions (CGI)
Description
The CGI Scale is a widely validated scale that long been implemented in neurodegenerative disease trials to provide an index of clinical importance that cannot be obtained from quantitative assessment measures. The CGI comprises of two companion one-item measures evaluating: (A) The severity of the patient's condition and (B) the change from the initiation of treatment. Both measures are evaluated on a 1 to 7 point Likert scale, with 1 indicating the best clinical status and 7 indicating the worst.
Time Frame
Baseline (Day 1) to end of treatment with IB1001 (Approximately Day 42); End of treatment with IB1001 (Approximately Day 42) to the end of post-treatment washout (Approximately Day 84)
Title
Parent/Caregiver's Clinical Global Impressions (CGI)
Description
The CGI Scale is a widely validated scale that long been implemented in neurodegenerative disease trials to provide an index of clinical importance that cannot be obtained from quantitative assessment measures. The CGI comprises of two companion one-item measures evaluating: (A) The severity of the patient's condition and (B) the change from the initiation of treatment. Both measures are evaluated on a 1 to 7 point Likert scale, with 1 indicating the best clinical status and 7 indicating the worst.
Time Frame
Baseline (Day 1) to end of treatment with IB1001 (Approximately Day 42); End of treatment with IB1001 (Approximately Day 42) to the end of post-treatment washout (Approximately Day 84)
Title
Patient's Clinical Global Impressions (CGI) if able
Description
The CGI Scale is a widely validated scale that long been implemented in neurodegenerative disease trials to provide an index of clinical importance that cannot be obtained from quantitative assessment measures. The CGI comprises of two companion one-item measures evaluating: (A) The severity of the patient's condition and (B) the change from the initiation of treatment. Both measures are evaluated on a 1 to 7 point Likert scale, with 1 indicating the best clinical status and 7 indicating the worst.
Time Frame
Baseline (Day 1) to end of treatment with IB1001 (Approximately Day 42); End of treatment with IB1001 (Approximately Day 42) to the end of post-treatment washout (Approximately Day 84)

10. Eligibility

Sex
All
Minimum Age & Unit of Time
6 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria Individuals who meet all of the following criteria are eligible to participate in the study: Written informed consent signed by the patient and/or their legal representative/ parent Male or female aged ≥6 years with a confirmed diagnosis of A-T at the time of signing informed consent. Females of childbearing potential, defined as a premenopausal female capable of becoming pregnant, will be included if they are either sexually inactive (sexually abstinent for 14 days prior to the first dose continuing through 28 days after the last dose) or using one of the following highly effective contraceptives (i.e. results in <1% failure rate when used consistently and correctly) 14 days prior to the first dose continuing through 28 days after the last dose: intrauterine device (IUD); surgical sterilization of the partner (vasectomy for 6 months minimum); combined (estrogen or progestogen containing) hormonal contraception associated with the inhibition of ovulation (either oral, intravaginal, or transdermal); progestogen-only hormonal contraception associated with the inhibition of ovulation (either oral, injectable, or implantable); intrauterine hormone-releasing system (IUS); bilateral tubal occlusion. Females of non-childbearing potential must have undergone one of the following sterilization procedures at least 6 months prior to the first dose: hysteroscopic sterilization; bilateral tubal ligation or bilateral salpingectomy; hysterectomy; bilateral oophorectomy; OR be postmenopausal with amenorrhea for at least 1 year prior to the first dose and follicle stimulating hormone (FSH) serum levels consistent with postmenopausal status. FSH analysis for postmenopausal women will be done at screening. FSH levels should be in the postmenopausal range as determined by the central laboratory. Non-vasectomized male patient agrees to use a condom with spermicide or abstain from sexual intercourse during the study until 90 days beyond the last dose of study medication and the female partner agrees to comply with inclusion criteria 3 or 4. For a vasectomized male who has had his vasectomy 6 months or more prior to study start, it is required that they use a condom during sexual intercourse. A male who has been vasectomized less than 6 months prior to study start must follow the same restrictions as a non-vasectomized male. If male, the patient agrees not to donate sperm from the first dose until 90 days after dosing. Patients must fall within: a) A SARA score of 5 ≤ X ≤ 33 points (out of 40) AND i. Within the 2-7 range (out of 0-8 range) of the Gait subtest of the SARA scale OR ii. Be able to perform the 9 Hole Peg Test with Dominant Hand (9HPT-D) (SCAFI subtest) in 20 ≤ X ≤150 seconds. Weight ≥15 kg at screening. Patients are willing to disclose their existing medications/therapies for (the symptoms) of A-T, including those on the prohibited medication list. Non-prohibited medications/therapies (e.g. concomitant speech therapy, and physiotherapy) are permitted provided: The Investigator does not believe the medication/therapy will interfere with the study protocol/results Patients have been on a stable dose/duration and type of therapy for at least 6 weeks before Visit 1 (Baseline 1) Patients are willing to maintain a stable dose/do not change their therapy throughout the duration of the study. An understanding of the implications of study participation, provided in the written patient information and informed consent by patients or their legal representative/parent, and demonstrates a willingness to comply with instructions and attend required study visits (for children this criterion will also be assessed in parents or appointed guardians). Exclusion Criteria Individuals who meet any of the following criteria are not eligible to participate in the study: Asymptomatic patients Patient has clinical features of A-T, but a completely negative result on a previous genetic test for A-T. Patients who have any of the following: Chronic diarrhea; Unexplained visual loss; Malignancies; Insulin-dependent diabetes mellitus. Known history of hypersensitivity to the N-Acetyl-Leucine (DL-, L-, D-) or derivatives. History of known hypersensitivity to excipients of Ora-Blend® (namely sucrose, sorbitol, cellulose, carboxymethylcellulose, xanthan gum, carrageenan, dimethicone, methylparaben, and potassium sorbate). Simultaneous participation in another clinical study or participation in any clinical study involving administration of an investigational medicinal product (IMP; 'study drug') within 6 weeks prior to Visit 1. Patients with a physical or psychiatric condition which, at the investigator's discretion, may put the patient at risk, may confound the study results, or may interfere with the patient's participation in the clinical study. Known clinically-significant (at the discretion of the investigator) laboratories in hematology, coagulation, clinical chemistry, or urinalysis, including, but not limited to: Aspartate aminotransferase (AST) or alanine aminotransferase (ALT) >5x upper limit of normal (ULN); Total bilirubin >1.5x ULN, unless Gilbert's syndrome is present in which case total bilirubin >2x ULN. Known or persistent use, misuse, or dependency of medication, drugs, or alcohol. Current or planned pregnancy or women who are breastfeeding. Patients with severe vision or hearing impairment (that is not corrected by glasses or hearing aids) that, at the investigator's discretion, interferes with their ability to perform study assessments. Patients who have been diagnosed with arthritis or other musculoskeletal disorders affecting joints, muscles, ligaments, and/or nerves that by themselves affects patient's mobility and, at the investigator's discretion, interferes with their ability to perform study assessments. Patients unwilling and/or not able to undergo a 6-week washout period from any of the following prohibited medication prior to Visit 1 (Baseline 1) and remain without prohibited medication through Visit 6. Aminopyridines (including sustained-release form); N-Acetyl-DL-Leucine (e.g. Tanganil®); N-Acetyl-L-Leucine (prohibited if not provided as IMP); Riluzole; Gabapentin; Varenicline; Chlorzoxazone; Sulfasalazine; Rosuvastatin.
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Michael Strupp, MD
Phone
+44 8081 641283
Email
mstrupp@intrabio.com
First Name & Middle Initial & Last Name or Official Title & Degree
Taylor Fields, MSt
Phone
+44 8081 641283
Email
tfields@intrabio.com
Facility Information:
Facility Name
University of California - Los Angeles
City
Los Angeles
State/Province
California
ZIP/Postal Code
90095
Country
United States
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Aaron Fisher
Phone
310-206-8153
Email
ADFisher@mednet.ucla.edu
First Name & Middle Initial & Last Name & Degree
Susan Perlman, MD
Facility Name
University of Giessen
City
Gießen
Country
Germany
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Kyriakos Martakis, MD
Phone
+49 (0)641 985 43543
Email
Kyriakos.Martakis@paediat.med.uni-giessen.de
First Name & Middle Initial & Last Name & Degree
Andreas Hahn, MD
Facility Name
Ludwig Maximilian University of Munich
City
München
Country
Germany
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Anita Hennig, MD
Phone
+49 (0)89 4400 7677
Email
Anita.Hennig@med.uni-muenchen.de
First Name & Middle Initial & Last Name & Degree
Susanne Schneider, MD
Facility Name
Hospital Universitario La Paz
City
Madrid
Country
Spain
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Ignacio Pascual Pascual, MD
Phone
+34 917277388
Email
ipascual@salud.madrid.org
First Name & Middle Initial & Last Name & Degree
Ignacio Pascual Pascual, MD
Facility Name
Royal Papworth Hospital NHS Foundation Trust
City
Cambridge
State/Province
Cambridgeshire
ZIP/Postal Code
CB2 0AY
Country
United Kingdom
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Hannah Munday
Phone
+44 (0) 1223 639716
Email
hannahmunday@nhs.net
First Name & Middle Initial & Last Name & Degree
Nicholas Oscroft, MD
First Name & Middle Initial & Last Name & Degree
Anke Hensiek, MD

12. IPD Sharing Statement

Citations:
PubMed Identifier
34620022
Citation
Brueggemann A, Bicvic A, Goeldlin M, Kalla R, Kerkeni H, Mantokoudis G, Abegg M, Kolnikova M, Mohaupt M, Bremova-Ertl T. Effects of Acetyl-DL-Leucine on Ataxia and Downbeat-Nystagmus in Six Patients With Ataxia Telangiectasia. J Child Neurol. 2022 Jan;37(1):20-27. doi: 10.1177/08830738211028394. Epub 2021 Oct 7.
Results Reference
derived
PubMed Identifier
34349180
Citation
Churchill GC, Strupp M, Factor C, Bremova-Ertl T, Factor M, Patterson MC, Platt FM, Galione A. Acetylation turns leucine into a drug by membrane transporter switching. Sci Rep. 2021 Aug 4;11(1):15812. doi: 10.1038/s41598-021-95255-5.
Results Reference
derived
PubMed Identifier
33482890
Citation
Fields T, Patterson M, Bremova-Ertl T, Belcher G, Billington I, Churchill GC, Davis W, Evans W, Flint S, Galione A, Granzer U, Greenfield J, Karl R, Kay R, Lewi D, Mathieson T, Meyer T, Pangonis D, Platt FM, Tsang L, Verburg C, Factor M, Strupp M. A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia. Trials. 2021 Jan 22;22(1):84. doi: 10.1186/s13063-020-05009-3.
Results Reference
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N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)

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