Rare DiseasesNCT04152876
Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power
An observational study of Rare Diseases, run by Neuromed IRCCS at 1 site in Italy.
Trial summary
The project aims to improve the understanding of a significant group of rare diseases both from a genetic/diagnostic and clinical/experimental point of view and aims to develop one or more diagnostic protocols. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Rare Diseases
- How many people
- 300 participants
- Where
- 1 siteItaly
- Study dates
- 31 Oct 2019to 31 Jul 2022
- Phase
- Observational
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients will be selected from the Center for rare diseases of the IRCCS Neuromed, and at IGB CNR according to specific inclusion criteria. Approximatey 300 subjects, recruited with a family-based approach, will be included in the study.
Who may be able to join
- Patients affected by: SLA, Incontinentia Pigmenti type II, Rett Syndrome, Paget Disease, Pompe Disease, Immunodeficiency, Centromeric instability and Facial anomalies, Cortical malformations and malignant epileptic encephalopathies
Who cannot join
- none
Trial locations and contacts
1 site in 1 country.
Italy1 site
IRCCS Neuromed
Pozzilli, 86077
Alba Di Pardo, PhD, 0865915212, dipardoa@hotmail.com
About this study
The project aims to improve the understanding of a significant group of rare diseases both from a genetic/diagnostic and clinical/experimental point of view and aims to develop one or more diagnostic protocols.
The study will be conducted through the application of complementary experimental strategies, ranging from the clinical, genetic and molecular characterization of the pathology to the search for rare variants and the development of cellular disease models.
Read the detailed description
- Clinical evaluation of patients and relatives
- High throughput analysis of genetic variants in genome exomes
- Genotype-phenotype association testing
- Identification of genetic risk variants for rare diseases
- Conditions
- Rare Diseases
- Medical subject headings
- Rare Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Cases | Patients with rare disease | |
| controls | Healthy parents and relatives |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of genetic variants responsible for rare diseases
Analysis of exome sequencing data; annotation of genetic variants; selection of variants present in cases and absent in controls
Measured: Two years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Nov 2019
- Study start31 Oct 2019 (estimated)
- Primary completion31 Jul 2021 (estimated)
- Study completion31 Jul 2022 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare DiseasesStudies of the same condition, open and under way.
- 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
- Observational
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Neuromed IRCCS
- Sponsor type
- University, hospital or other
- Collaborators
- Institute of Genetics and Biophysics CNR
- Responsible party
- Principal investigator, Diego Centonze, Neuromed IRCCS
- Investigators
- Diego Centonze, MD, Principal investigator, Head of Neurology Unit
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04152876
- Sponsor's protocol ID
- PON MISE n. F/050011/01/X32
- Status last verified
- Nov 2019
- First submitted
- 4 Nov 2019
- Last updated
- 5 Nov 2019
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Nov 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power
- ClinicalTrials.gov ID
- NCT04152876
- Acronym / sponsor ID
- PON MISE n. F/050011/01/X32
- Conditions
- Rare Diseases
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Neuromed IRCCSUniversity, hospital or other
- Collaborators
- Institute of Genetics and Biophysics CNR
- Study start
- 31 Oct 2019 (estimated)
- Primary completion
- 31 Jul 2021 (estimated)
- Study completion
- 31 Jul 2022 (estimated)
- First posted
- 5 Nov 2019 (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 project aims to improve the understanding of a significant group of rare diseases both from a genetic/diagnostic and clinical/experimental point of view and aims to develop one or more diagnostic protocols.
The study will be conducted through the application of complementary experimental strategies, ranging from the clinical, genetic and molecular characterization of the pathology to the search for rare variants and the development of cellular disease models.
Detailed description
- Clinical evaluation of patients and relatives
- High throughput analysis of genetic variants in genome exomes
- Genotype-phenotype association testing
- Identification of genetic risk variants for rare diseases
Study design
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Cases | – | –Patients with rare disease |
| controls | – | –Healthy parents and relatives |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients will be selected from the Center for rare diseases of the IRCCS Neuromed, and at IGB CNR according to specific inclusion criteria. Approximatey 300 subjects, recruited with a family-based approach, will be included in the study.
Key inclusion criteria (1 listed)
- Patients affected by: SLA, Incontinentia Pigmenti type II, Rett Syndrome, Paget Disease, Pompe Disease, Immunodeficiency, Centromeric instability and Facial anomalies, Cortical malformations and malignant epileptic encephalopathies
Key exclusion criteria (1 listed)
- none
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Identification of genetic variants responsible for rare diseases
Time frame: Two years
Analysis of exome sequencing data; annotation of genetic variants; selection of variants present in cases and absent in controls
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Nov 2019.
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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.
Diego Centonze, MD principal investigator
Head of Neurology Unit
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rare Diseases, run by Neuromed IRCCS at 1 site in Italy.
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 1 inclusion and 1 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: status not confirmed, as of the sponsor's last update on 5 Nov 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Diego Centonze, MD (+39 0865915212, centonze@uniroma2.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of genetic variants responsible for rare diseases (time frame: Two years). 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 Nov 2019.