A Study of N-Acetyl-L-Leucine in Ataxia-Telangiectasia

Germany, Slovakia, Spain, Switzerland, United Kingdom, United States (ICTRP)

ID di studio ICTRP
NCT06673056 (ICTRP)

Titolo ufficiale (approvato dal comitato etico)
Effects of N-Acetyl-L-Leucine on Ataxia-Telangiectas ia (A-T): A Phase lii, randomized, placebo-controlled, double-blind, crossover study (BASEC)

Titolo accademico
Effects of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T: A Phase III, Randomized, Placebo-controlled, Double-blind, Crossover Study (ICTRP)

Titolo pubblico
A Pivotal Study of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T) (ICTRP)

Malattie studiate
Ataxia-TelangiectasiaAtaxia-Telangiectasia (A-T) (ICTRP)

Intervento studiato
Drug: N-Acetyl-L-LeucineOther: Placebo (ICTRP)

Tipo di studio
Interventional (ICTRP)

Disegno dello studio
Allocation: Randomized. Intervention model: Crossover Assignment. Primary purpose: Treatment. Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor). (ICTRP)

Criteri di inclusione/esclusione
Inclusion Criteria:

-

1. Written informed consent signed by the patient and/or their legal
representative / parent/ impartial witness 2. Male or female aged =4 years with
a genetically 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 and confirm to continue
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 who have
undergone one of the following sterilization procedures at least 6 months prior
to the first dose:



1. hysteroscopic sterilization

2. 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
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, patient agrees not to donate sperm from the first dose until 90
days after their last dose.

7. Patients must fall within:



1. A SARA score of 7 = X = 34 points (out of 40) AND

2. Either:

i. Within the 2-7 range (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, 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
42 days 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:

-

1. Patients who have any known hypersensitivity or history of hypersensitivity to:

1. Acetyl-Leucine (DL-, L-, D-) or derivatives.

2. Excipients the IB1001 sachet (namely isomalt, hypromellose, and strawberry
flavor).

3. Excipients the placebo sachet (namely isomalt, hypromellose, strawberry flavor,
citric acid, microcrystalline cellulose, lactose, denatonium benzoate).

2. Simultaneous participation in another clinical study or participation in
any clinical study involving administration of an investigational
medicinal product (IMP 'study drug') for at least 42 days prior to Visit
1. At the discretion of the investigator, Medical Monitor, and Sponsor,
the washout period for specific IMPs may be longer based on the
pharmacological activity and pharmacokinetics of the drug.

3. Patients with a physical or psychiatric condition which, at the
investigator's discretion and in consultation with the Medical Monitor and
Sponsor (as applicable), may put the patient at risk, may confound the
study results, or may interfere with the patient's participation in the
clinical study, i.e. reliably perform study assessments.

4. Known or persistent use, misuse, or dependency of medication, drugs, or
alcohol.

5. Current or planned pregnancy or women who are breastfeeding. 6. 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.

7. 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.

8. Patients unwilling and/or not able to undergo a 42-day washout period from
any of the following prohibited medication prior to Visit 1 (Baseline 1)
and remain without prohibited medication through Visit 6.



1. N-Acetyl-DL-Leucine (e.g. Tanganil)

2. N-Acetyl-L-Leucine (prohibited if not provided as IMP in the IB1001-303 trial)

3. Sulfasalazine

4. Rosuvastatin. (ICTRP)

non disponibile

Endpoint primari e secondari
Scale for the Assessment and Rating of Ataxia (ICTRP)

Spinocerebellar Ataxia Functional Index (SCAFI);Physician's / Caregiver's / Patient's Clinical Global Impressions (CGI);EuroQuol- 5 Dimension (EQ-5D) Quality of Life Scale;International Cooperate Ataxia Rating Scale (ICARS);Neuro Quality of Life - Upper Extremity Function (NeuroQOL-UEF) (ICTRP)

Data di registrazione
31.10.2024 (ICTRP)

Inclusione del primo partecipante
non disponibile

Sponsor secondari
non disponibile

Contatti aggiuntivi
Taylor Fields, MSt, tfields@intrabio.com, +447426956369 (ICTRP)

ID secondari
IB1001-303 (ICTRP)

Risultati-Dati individuali dei partecipanti
non disponibile

Ulteriori informazioni sullo studio
https://clinicaltrials.gov/ct2/show/NCT06673056 (ICTRP)