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Study on the Safety and Effects of Acetylcysteine Amide for Patients Aged 12 and Over with Hereditary Cystatin C Amyloid Angiopathy

Investigational
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What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial is focused on studying a rare condition called Hereditary Cystatin C Amyloid Angiopathy (HCCAA). This is a genetic disorder that can lead to problems with blood vessels in the brain, sometimes causing bleeding. The trial will test a new treatment called NPI-001, which is also known as acetylcysteine amide. This treatment is taken as a tablet by mouth.

The purpose of the study is to see how safe and well-tolerated NPI-001 is for patients with HCCAA. Researchers will also look at how effective the treatment is in reducing the frequency of brain bleeding events compared to past rates. Additionally, the study will examine changes in certain proteins and markers in the skin, which are related to the disease, using advanced techniques.

Participants in the study will take the medication for up to 12 months. During this time, they will have regular check-ups, including skin biopsies and blood tests, to monitor their health and the effects of the treatment. The study will also involve MRI scans of the brain to assess any changes. The goal is to gather information that could help improve the understanding and management of HCCAA in the future.

The research process

The trial runs in 5 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Initial assessment

    Upon joining the clinical trial, an initial assessment will be conducted. This includes a review of medical history and confirmation of eligibility criteria, such as age and genetic testing results.

    A baseline skin biopsy and blood tests will be performed to gather initial data. These procedures are necessary to monitor changes throughout the trial.

  2. Step 2

    Medication administration

    The medication NPI-001 will be administered orally in the form of a tablet. The dosage and frequency will be determined by the study protocol and communicated to you by the clinical team.

    The duration of medication administration is up to 12 months, during which regular monitoring will occur.

  3. Step 3

    Regular follow-up visits

    Regular follow-up visits will be scheduled to monitor your health and the effects of the medication. These visits will include physical and neurological examinations, as well as safety laboratory tests.

    During these visits, additional skin biopsies and blood tests may be conducted to assess the impact of the treatment.

  4. Step 4

    MRI evaluations

    You will undergo MRI evaluations of the brain at specified intervals. These evaluations help in assessing any changes in brain structure and function.

    The frequency of MRI scans will be determined by the study protocol and communicated to you in advance.

  5. Step 5

    Final assessment

    At the end of the trial period, a final assessment will be conducted. This includes a comprehensive review of all collected data, including skin biopsies, blood tests, and MRI results.

    The final assessment aims to evaluate the overall safety, tolerability, and efficacy of the medication.

Who can join the trial?

8 criteria

  • The patient must be a male or female aged 12 or older and of Icelandic ancestry. Patients aged 12-17 can only join if approved by a safety board after reviewing adult safety data for at least 3 months.
  • The patient must have a specific genetic change called the L68Q mutation in the cystatin C gene, confirmed by genetic testing.
  • The patient must agree to have a small piece of skin removed (a skin biopsy) at the start and during the study, up to 12 months.
  • The patient must agree to have blood tests at the start and during the study, up to 12 months.
  • The patient must agree to have MRI scans of the brain. An MRI is a type of scan that uses magnets and radio waves to create pictures of the inside of the body.
  • The patient must provide informed consent, meaning they understand the study and agree to participate.
  • The patient must agree to use birth control methods as required by local rules. This applies to women who can have children and men who can father children. Acceptable methods include hormonal birth control, intrauterine devices, barrier methods like condoms, or surgical procedures like tubal ligation or vasectomy.
  • Patients with mild memory or thinking problems can participate if they can follow the study instructions.

Who cannot join the trial?

10 criteria

  • Patients who are not diagnosed with Hereditary Cystatin C Amyloid Angiopathy (HCCAA) cannot participate.
  • Patients under the age of 12 are not eligible to join the study.
  • Patients who are unable to take oral medication will be excluded.
  • Patients with a history of severe allergic reactions to similar medications are not allowed to participate.
  • Patients with other serious health conditions that might interfere with the study will be excluded.
  • Pregnant or breastfeeding women cannot participate in the study.
  • Patients who are currently participating in another clinical trial are not eligible.
  • Patients who have had a major surgery within the last 3 months are excluded.
  • Patients with a history of drug or alcohol abuse in the past year cannot join the study.
  • Patients who are unable to comply with the study procedures and visits will be excluded.
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Investigated drugs

NPI-001 is a medication being tested in this clinical trial for its safety, tolerability, and effectiveness in patients with a condition called Hereditary Cystatin C Amyloid Angiopathy (HCCAA). This condition can lead to bleeding in the brain. The medication is taken by mouth and aims to reduce the frequency of these bleeding events. Additionally, it is being studied for its potential to decrease certain harmful protein complexes in the skin, which are linked to the disease. Researchers are using advanced techniques to measure these changes and see if the medication can help improve the condition of patients with HCCAA.

What is already known about the treatment

NPI-001 (AT-001) – This medication is taken orally and is currently being studied for its safety, tolerability, and effectiveness in treating Hereditary Cystatin C Amyloid Angiopathy (HCCAA), a rare genetic condition. The main goal of the research is to see if NPI-001 can reduce the frequency of brain bleeding events and decrease specific protein complexes in the body. At the molecular level, it works by targeting and reducing amyloid-cystatin C complexes, which are associated with the disease. NPI-001 is classified as a therapeutic agent aimed at addressing amyloid-related conditions.

Investigated diseases

Hereditary Cystatin C Amyloid Angiopathy (HCCAA) – This is a genetic disorder characterized by the accumulation of amyloid proteins in the walls of blood vessels, particularly in the brain. The disease progresses as these amyloid deposits lead to the weakening of blood vessel walls, increasing the risk of bleeding in the brain. Over time, the buildup of amyloid proteins can also affect skin tissues, leading to changes detectable through skin biopsies. The condition is associated with changes in the structure of proteins, such as cystatin C, which can form complexes that further contribute to the disease process. As the disease advances, it may impact cognitive functions due to the effects on cerebral blood vessels. The progression of HCCAA is marked by the increasing frequency of cerebral bleeding events and changes in protein deposition patterns.
Trial detailsLast updated 2 Oct 2026
Age18+ yearsPhasePhase IITrial ID2023-503969-36-00Protocol code2023-503969-36-00Estimated enrolment25 patientsSponsorArctic Therapeutics ehf.

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On this site, “treatment” means an investigational medicine being studied in a clinical trial. Its safety and efficacy for the use being studied have not yet been confirmed, some participants may receive a placebo or a comparator medicine, and taking part does not guarantee any health benefit. The decision to take part is made by the doctor at the research site. This site is for information only and does not replace medical advice.

This service is not affiliated with the European Commission, the EMA, or the official CTIS system. Most information comes from publicly available international clinical-trial registries, supplemented by data from academic sites, national regulators and commercial sponsors. On this site, “treatment” and “therapy” mean a medicine being tested in a clinical trial. Its safety and effectiveness in the use being studied are not yet confirmed, some participants may receive a placebo or a comparator, and taking part does not guarantee a health benefit. The doctor at the research site decides who can take part. This site provides information, not medical advice. Certain content and visual elements on this website have been generated or enhanced using artificial intelligence (AI).