Familial Fatal InsomniaPhase 2FFINCT04846335
Familiar Fatal Insomnia: Preventive Treatment With Doxycycline in Subject With Disease Risk
A Phase 2 study testing Doxycycline Hcl in people with Familial Fatal Insomnia, run by Mario Negri Institute for Pharmacological Research.
Trial summary
The neurodegenerative disorders is a class o pathologies including very common diseases as Alzheimer or Parkinson or very rare as fatal familial insomnia (FFI), the progression of the disease with no therapeutic remedy is the common tract of these disorders. Read more about this study
- Who is it for?
- Ages 44 to 53 years
- Conditions the study is for
- Familial Fatal Insomnia
- What is being tested?
- Doxycycline Hcl
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 29 participants
- Where
- No sites listed yet
- Study dates
- 28 Apr 2011to 30 Nov 2024
- Phase
- Phase 2
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 44 to 53 years
- All sexes
- No healthy volunteers
- Adult
Who may be able to join
- subjects aged 44 to 53 years;
- no conditions known to be contraindications to the use of tetracyclines;
- written informed consent.
Who cannot join
- end stage liver,
- heart and renal disease,
- active malignancy,
- female subjects who are pregnant or lactating
About this study
The neurodegenerative disorders is a class o pathologies including very common diseases as Alzheimer or Parkinson or very rare as fatal familial insomnia (FFI), the progression of the disease with no therapeutic remedy is the common tract of these disorders. The aim of this project is to carry out a preventive treatment in subjects with genetic risk to develop FFI to avoid the establishment of the disease. FFI is a rare genetic neurodegenerative disease characterized by disrupted sleep, autonomic hyperactivation and motor abnormalities with fatal exitus. FFI is inherited in an autosomal dominant fashion and is linked to the D178N mutation in the prion protein gene (PRNP) in association with a methionine at the polymorphic codon 129 (D178N/M129). About thirty FFI pedigrees have been described worldwide, the mfirst case being reported in 1986 in northern Italy. This patient turned out to belong to large kindred, which spans 7 generations dating back to the eighteenth century. Many people belonging to this geneaology still live in the Veneto region of Italy, and they are part of an association. The genetic screening of 85 subjects belonging to this family permitted to identify the mutation carriers. Since the disease is aggressive and the affected people usually died within thirteen months from the onset, the possibility of an efficacious therapy when the disease become evident is unrealistic. This condition indicates in a preventive approach the better condition to affect the disease. Experimental studies and clinical observation indicated the antibiotic doxycycline (DOXY) as a potential candidate for a treatment in FFI subjects. The age with maximal risk to get the disease is between 50 and 55 years old. Thus the carriers that were born between 1958 and 1969 will be recruited for a preventive treatment with DOXY for ten years, at the end of this period or before we can establish if DOXY can be useful to avoid the development of FFI.
- Conditions
- Familial Fatal Insomnia
- Being tested
- Doxycycline Hcl, Placebo
- Medical subject headings
- Insomnia, Fatal Familial
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Doxycycline HclDrug
tablets of DOXY hydrocloride (Bassado)
PlaceboDrug
tablets of placebo
| Study group | Role | What they receive |
|---|---|---|
| Active Bassado | Experimental | patients with D178N/M129 mutation on prion protein will be treated with Bassad Receives: Drug: Doxycycline Hcl |
| Placebo | Placebo comparator | subject without the mutation will be treated with plac Receives: Drug: Placebo |
What is being measured
The primary outcome is the main question the study is designed to answer.
survival
The efficacy of the preventive treatment will be evaluated on the percentage of the survivals after ten years, according to the statistical analysis if no more than three individuals will die within the ten years, the treatment can be considered active to prevent FFI insurgence.
Measured: after 10 years of treatment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Apr 2021
- Study start28 Apr 2011
- Primary completion12 Apr 2021
- Study completion30 Nov 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Familial Fatal InsomniaStudies of the same condition, open and under way.
- More trials run by Mario Negri Institute for Pharmacological ResearchThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Prevention
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind
- Who is masked
- Participant, Care provider, Investigator, Outcomes assessor
- Enrolment
- 29 participants (actual)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- Fondazione Telethon
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04846335
- Sponsor's protocol ID
- FFI
- Acronym
- FFI
- Status last verified
- Apr 2021
- First submitted
- 12 Apr 2021
- Last updated
- 5 Dec 2024
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Dec 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Familiar Fatal Insomnia: Preventive Treatment With Doxycycline in Subject With Disease Risk
- ClinicalTrials.gov ID
- NCT04846335
- Acronym / sponsor ID
- FFI / FFI
- Conditions
- Familial Fatal Insomnia
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 29 participants (actual)
- Lead sponsor
- Mario Negri Institute for Pharmacological ResearchUniversity, hospital or other
- Collaborators
- Fondazione Telethon
- Study start
- 28 Apr 2011 (actual)
- Primary completion
- 12 Apr 2021 (actual)
- Study completion
- 30 Nov 2024 (actual)
- First posted
- 15 Apr 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The neurodegenerative disorders is a class o pathologies including very common diseases as Alzheimer or Parkinson or very rare as fatal familial insomnia (FFI), the progression of the disease with no therapeutic remedy is the common tract of these disorders. The aim of this project is to carry out a preventive treatment in subjects with genetic risk to develop FFI to avoid the establishment of the disease. FFI is a rare genetic neurodegenerative disease characterized by disrupted sleep, autonomic hyperactivation and motor abnormalities with fatal exitus. FFI is inherited in an autosomal dominant fashion and is linked to the D178N mutation in the prion protein gene (PRNP) in association with a methionine at the polymorphic codon 129 (D178N/M129). About thirty FFI pedigrees have been described worldwide, the mfirst case being reported in 1986 in northern Italy. This patient turned out to belong to large kindred, which spans 7 generations dating back to the eighteenth century. Many people belonging to this geneaology still live in the Veneto region of Italy, and they are part of an association. The genetic screening of 85 subjects belonging to this family permitted to identify the mutation carriers. Since the disease is aggressive and the affected people usually died within thirteen months from the onset, the possibility of an efficacious therapy when the disease become evident is unrealistic. This condition indicates in a preventive approach the better condition to affect the disease. Experimental studies and clinical observation indicated the antibiotic doxycycline (DOXY) as a potential candidate for a treatment in FFI subjects. The age with maximal risk to get the disease is between 50 and 55 years old. Thus the carriers that were born between 1958 and 1969 will be recruited for a preventive treatment with DOXY for ten years, at the end of this period or before we can establish if DOXY can be useful to avoid the development of FFI.
Study design
- Primary purpose
- Prevention
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind (participant, care provider, investigator, outcomes assessor)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Active Bassado | Experimental | Drug: Doxycycline Hclpatients with D178N/M129 mutation on prion protein will be treated with Bassad |
| Placebo | Placebo comparator | Drug: Placebosubject without the mutation will be treated with plac |
Who may qualify
- Ages
- 44 to 53 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
Key inclusion criteria (3 listed)
- subjects aged 44 to 53 years;
- no conditions known to be contraindications to the use of tetracyclines;
- written informed consent.
Key exclusion criteria (4 listed)
- end stage liver,
- heart and renal disease,
- active malignancy,
- female subjects who are pregnant or lactating
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Doxycycline Hcltablets of DOXY hydrocloride (Bassado) | Drug | Active Bassado |
| Placebotablets of placebo | Drug | Placebo |
Primary outcome
survival
Time frame: after 10 years of treatment
The efficacy of the preventive treatment will be evaluated on the percentage of the survivals after ten years, according to the statistical analysis if no more than three individuals will die within the ten years, the treatment can be considered active to prevent FFI insurgence.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Dec 2024.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Doxycycline Hcl in people with Familial Fatal Insomnia, run by Mario Negri Institute for Pharmacological Research.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 5 Dec 2024. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
survival (time frame: after 10 years of treatment). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Dec 2024.