L-ACETYLLEUCINE for CACNA1A disorders|Neurodevelopmental disorder

Inclusion criteria

• {"criterion_text":"- 1.\tWritten informed consent signed by the patient and/or their legal representative/ parent/ impartial witness"}
• {"criterion_text":"- 10.\tAn 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)."}
• {"criterion_text":"- 2.\tMale or female aged ≥4 years with a genetically confirmed diagnosis of a CACNA1A disorder (including patients with loss-of-function and fain-of-function mutations, e.g. Episodic Ataxia Type 2 [EA2], Familial Hemiplegic Migraine Type 1 [FHM1], Spinocerebellar Ataxia type C (SCA6), Developmental and Epileptic encephalopathy 42 (DEE42), Congenital ataxia or cerebellar hypoplasia due to a CACNA1A mutation ) at the time of signing informed consent"}
• {"criterion_text":"- 3.\tFemales 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: a)\tintrauterine device (IUD); b)\tsurgical sterilization of the partner (vasectomy for 6 months minimum); c)\tcombined (estrogen or progestogen containing) hormonal contraception associated with the inhibition of ovulation (either oral, intravaginal, or transdermal); d)\tprogestogen only hormonal contraception associated with the inhibition of ovulation (either oral, injectable, or implantable); e)\tintrauterine hormone releasing system (IUS); f)\tbilateral tubal occlusion."}
• {"criterion_text":"- 4.\tFemales of non-childbearing potential who have undergone one of the following sterilization procedures at least 6 months prior to the first dose: a)\thysteroscopic sterilization; b)\tbilateral salpingectomy; c)\thysterectomy; d)\tbilateral 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."}
• {"criterion_text":"- 5.\tNon-vasectomized male patient agrees to use a condom with spermicide 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"}
• {"criterion_text":"- 6.\tIf male, patient agrees not to donate sperm from the first dose until 90 days after their last dose."}
• {"criterion_text":"- 7.\tPatients who have ataxia symptoms which (outside of episodes, is applicable) fall within: a)\tA SARA score of 7 ≤ X ≤ 34 points (out of 40) AND b)\tEither: i.\tWithin the 2-7 range (0-8 range) of the Gait subtest of the SARA scale OR ii.\tBe able to perform the 9-Hole Peg Test with Dominant Hand (9HPT-D) (SCAFI subtest) in 20 ≤ X ≤150 seconds."}
• {"criterion_text":"- 8.\tWeight ≥15 kg at screening"}
• {"criterion_text":"- 9.\tPatients are willing to disclose their existing medications/therapies for (the symptoms of) CACNA1A disorder including those on the prohibited medication list. Non-prohibited medications/therapies (e.g. speech therapy, physiotherapy) are permitted provided: a)\tThe Investigator does not believe the medication/therapy will interfere with the study protocol/results b)\tPatients have been on a stable dose/duration and type of therapy for at least 42 days before Visit 1 (Baseline 1) c)\tPatients are willing to maintain a stable dose/do not change their therapy throughout the duration of the study."}

Exclusion criteria

• {"criterion_text":"- 1.\tPatients who have any known hypersensitivity or history of hypersensitivity to: a.\tAcetyl-Leucine (DL-, L-, D-) or derivatives. b.\tExcipients the IB1001 sachet (namely isomalt, hypromellose, and strawberry flavor). c.\tExcipients the placebo sachet (namely isomalt, hypromellose, strawberry flavor, citric acid, microcrystalline cellulose, lactose, denatonium benzoate)."}
• {"criterion_text":"- 2.\tSimultaneous 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."}
• {"criterion_text":"- 3.\tPatients with a physical, cognitive, 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."}
• {"criterion_text":"- 4.\tKnown or persistent use, misuse, or dependency of medication, drugs, or alcohol."}
• {"criterion_text":"- 5.\tCurrent or planned pregnancy or women who are breastfeeding."}
• {"criterion_text":"- 6.\tPatients 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"}
• {"criterion_text":"- 7.\tPatients who have been diagnosed with arthritis or other musculoskeletal disorders affecting joints, muscles, ligaments, and/or nerves that by themselves affect patient’s mobility and, at the Investigator’s discretion, interferes with their ability to perform study assessments."}
• {"criterion_text":"- 8.\tPatients at non-EU trial sites 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. a.\tN-Acetyl-DL-Leucine (e.g. Tanganil®); b.\tN-Acetyl-L-Leucine (prohibited if not provided as IMP in the IB1001-304 trial);"}
• {"criterion_text":"- 9.\tPatients at EU trial sites who have had any of the following prohibited medication 42-days prior to Visit 1 (Baseline 1) and unwilling and/or not able to remain without prohibited medication through Visit 6. a.\tN-Acetyl-DL-Leucine (e.g. Tanganil®); b.\tN-Acetyl-L-Leucine (prohibited if not provided as IMP in the IB1001-304 trial)."}

Primary endpoints

• {"endpoint_text":"- The primary endpoint measure is the Scale for the Assessment and Rating of Ataxia (SARA). SARA is an eight-item clinical rating scale (range 0–40, where 0 is the best neurological status and 40 the worst). It is a reliable and valid clinical scale with a high internal consistency that measures the severity of ataxia and increases with ataxia disease stage.","definition_or_measurement_approach":"Measured using the SARA score (eight-item clinical rating scale, range 0–40; higher scores indicate more severe ataxia)."}

Secondary endpoints

• {"endpoint_text":"- •\tSpinocerebellar Ataxia Functional Index (SCAFI)","definition_or_measurement_approach":"SCAFI composite functional index (no further measurement details provided in JSON)."}
• {"endpoint_text":"- •\tFunctional Scale for the Assessment and Rating of Ataxia (f-SARA) [US only - key secondary endpoint in the US]","definition_or_measurement_approach":"f-SARA score; specified as a key secondary endpoint in the US (no further measurement details in JSON)."}
• {"endpoint_text":"- •\tQuality of Life EQ-5D-5L for patients aged ≥18; EQ-5D-Y for children aged <18 years","definition_or_measurement_approach":"Health-related quality of life measured by EQ-5D-5L for adults and EQ-5D-Y for children."}
• {"endpoint_text":"- •\tNeuro Quality of Life – Upper Extremity Function (NeuroQOL-UEF) assessed by the Patient or the Caregiver (if patient unable to complete)","definition_or_measurement_approach":"Patient- or caregiver-reported NeuroQOL Upper Extremity Function instrument (no further measurement details in JSON)."}

Austria

Earliest CTIS Part Ii Submission Date

17-03-2026

Latest Decision Or Authorization Date

12-04-2026

Processing Time Days

26

Number Of Sites

1

Number Of Participants

5

Germany

Earliest CTIS Part Ii Submission Date

19-02-2026

Latest Decision Or Authorization Date

25-03-2026

Processing Time Days

34

Number Of Sites

2

Number Of Participants

10

Italy

Earliest CTIS Part Ii Submission Date

13-03-2026

Latest Decision Or Authorization Date

08-04-2026

Processing Time Days

26

Number Of Sites

1

Number Of Participants

5

Primary sponsor

Full Name

Intrabio Limited

Organisation Type

Pharmaceutical company

Country Of Registered Address

United Kingdom

Contract research organisations

Name

Medpace Inc.

Responsibilities

sponsorDuties codes: 1,3,5,6,7; clinical operations and study management (contact A.Krutilin@medpace.com)

Name

Fisher Clinical Services GmbH

Responsibilities

Packaging and Labelling and associated services (sponsorDuties codes: 14,15); contact laura.purrott@thermofisher.com

Name

Certara USA Inc.

Responsibilities

sponsorDuties codes: 10,11 (modeling/analysis-related responsibilities as listed); contact nicola.lama@certara.com

Name

MEDPACE LABORATORIES

Responsibilities

Laboratory/testing services (sponsorDuties code: 4); contact c.saeren@medpace.com

Third parties

• {"country":"Belgium","full_name":"MEDPACE LABORATORIES","duties_or_roles":"sponsorDuties codes: 4; contact c.saeren@medpace.com","organisation_type":"Laboratory/Research/Testing facility"}
• {"country":"Germany","full_name":"Fisher Clinical Services GmbH","duties_or_roles":"sponsorDuties codes: 14,15 (Packaging and Labelling); contact laura.purrott@thermofisher.com","organisation_type":"Pharmaceutical company"}
• {"country":"United States","full_name":"Medpace Inc.","duties_or_roles":"sponsorDuties codes: 1,3,5,6,7; contact A.Krutilin@medpace.com","organisation_type":"Pharmaceutical company"}
• {"country":"Croatia","full_name":"Primevigilance Zagreb d.o.o.","duties_or_roles":"sponsorDuties codes: 8; contact Kristina.Cmrlec@primevigilance.com","organisation_type":"Pharmaceutical company"}
• {"country":"United States","full_name":"Certara USA Inc.","duties_or_roles":"sponsorDuties codes: 10,11; contact nicola.lama@certara.com","organisation_type":"Pharmaceutical company"}
• {"country":"Germany","full_name":"Prolytic GmbH","duties_or_roles":"sponsorDuties codes: 4; contact maria.fauth@prolytic.de","organisation_type":"Pharmaceutical company"}
• {"country":"Germany","full_name":"Analytisches Zentrum Biopharm GmbH Berlin","duties_or_roles":"sponsorDuties codes: 4; contact m.reinsch@az-biopharm.de","organisation_type":"Pharmaceutical company"}
• {"country":"France","full_name":"Patheon France","duties_or_roles":"sponsorDuties codes: 14,15 (Packaging and Labelling); contact sophie.trosseille@thermofisher.com","organisation_type":"Pharmaceutical company"}
• {"country":"United Kingdom","full_name":"Fisher Clinical Services UK Limited","duties_or_roles":"sponsorDuties codes: 14,15 (Packaging and Labelling); contact Peter.Burling@thermofisher.com","organisation_type":"Pharmaceutical company"}
• {"country":"United States","full_name":"Certara USA Inc. (listed under IntraBio Inc third parties)","duties_or_roles":"sponsorDuties codes: 10,11; contact nicola.lama@certara.com","organisation_type":"Pharmaceutical company"}
• {"country":"Germany","full_name":"Fisher Clinical Services GmbH (listed under IntraBio Inc third parties)","duties_or_roles":"sponsorDuties codes: 14,15; contact Peter.Burling@thermofisher.com","organisation_type":"Pharmaceutical company"}
• {"country":"United Kingdom","full_name":"Fisher Clinical Services UK Limited (listed under IntraBio Inc third parties)","duties_or_roles":"sponsorDuties codes: 14,15; contact Peter.Burling@thermofisher.com","organisation_type":"Pharmaceutical company"}
• {"country":"Belgium","full_name":"MEDPACE LABORATORIES (listed under IntraBio Inc third parties)","duties_or_roles":"sponsorDuties codes: 4; contact c.saeren@medpace.com","organisation_type":"Laboratory/Research/Testing facility"}
• {"country":"Germany","full_name":"Prolytic GmbH (listed under IntraBio Inc third parties)","duties_or_roles":"sponsorDuties codes: 4; contact maria.fauth@prolytic.de","organisation_type":"Pharmaceutical company"}
• {"country":"France","full_name":"Patheon France (listed under IntraBio Inc third parties)","duties_or_roles":"sponsorDuties codes: 14,15 (Packaging and Labelling); contact sophie.trosseille@thermofisher.com","organisation_type":"Pharmaceutical company"}
• {"country":"Croatia","full_name":"Primevigilance Zagreb d.o.o. (listed under IntraBio Inc third parties)","duties_or_roles":"sponsorDuties codes: 8; contact Kristina.Cmrlec@primevigilance.com","organisation_type":"Pharmaceutical company"}
• {"country":"United States","full_name":"Medpace Inc. (listed under IntraBio Inc third parties)","duties_or_roles":"sponsorDuties codes: 1,3,5,6; contact A.Krutilin@medpace.com","organisation_type":"Pharmaceutical company"}

Co-sponsors

• IntraBio Inc