Hereditary metabolic disease NPC
Conditions
Interventions
The study drug is N-Acetyl-L-Leucine (internal development name: IB1001)
formulated as 1000 mg granules for oral suspension in sachet.
Chemical name: 2(S)-(acetylamino)-4-methylpentanoic acid
Generi
Sponsors
IntraBio Ltd
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
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/ impartial witness 2. Male or female aged >=4 years with a confirmed diagnosis of NPC at the time of signing informed consent. Confirmed diagnosis includes on of the following [Patterson et al, 2017]: a) Clinical features and positive biomarker screen and/or filipin test without genetic tests results (has not been performed) b) Clinical features and positive genetic test c) Clinical features and positive biomarker screen and/or filipin test but only one NPC mutation identified on genetic test d) Clinical features with positive biomarker screen and/or filipin test and positive genetic test 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 =15 kg at screening. 9. Patients are willing to disclose their existing medications/therapies for
Exclusion criteria
Exclusion criteria: Individuals who meet any of the following criteria are not eligible to participate in the study: 1. Patients who have any known hypersensitivity or history of hypersensitivity to: a. Acetyl-Leucine (DL-, L-, D-) or derivatives. b. Excipients the IB1001 sachet (namely isomalt, Hypromellose, and Strawberry Flavour). c. Excipients the placebo sachet (namely isomalt, Hypromellose, Strawberry Flavour, Citric acide, 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. a) N-Acetyl-DL-Leucine (e.g. Tanganil®); b) N-Acetyl-L-Leucine (prohibited if not provided as IMP in the IB1001-301 trial); c) Sulfasalazine; d) Rosuvastatin.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Primary Endpoint: In Europe and Australia, the primary endpoint 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. In the United States (US), the primary endpoint is the modified Scale for the Assessment and Rating of Ataxia (mSARA). The mSARA is a six-item clinical rating scale (range 0-30, where 0 is the best neurological status and 30 the worst). The primary endpoint is defined as the total SARA / mSARA value at the end of Period I (Visit 4) versus the end of Period II (Visit 6). | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary Endpoints: The following secondary assessments will be evaluated: • Spinocerebellar Ataxia Functional Index (SCAFI) • SARA (key secondary endpoint - US only) • Quality of Life EQ-5D-5L for patients aged >=18; EQ-5D-Y for children aged | — |
Countries
Netherlands
Outcome results
None listed