Tricho Hepato Enteric SyndromeTHE-RNANCT04499040
Clinical and Biological Characterization of Patients and Collection of Samples
A study testing Blood sample, Fecal samples and Neuropsychological in people with Tricho Hepato Enteric Syndrome, run by Assistance Publique Hopitaux De Marseille at 1 site in France.
Trial summary
Objectives: Collect clinical and biological data about patients with SD/THE, collect samples of patients; create a secure on line database to collect worldwide data about SD/THE Partners : APHM, HCL, APHP Currently10 patients (8 with TTC37 mutations and 2 with SKIV2l mutations) present a SD/THE and are managed in… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Tricho Hepato Enteric Syndrome
- What is being tested?
- Blood sample, Fecal samples and Neuropsychological
- Type of treatment
- Lifestyle or therapy programme
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 100 participants
- Where
- 1 siteFrance
- Study dates
- 1 Sep 2020to 31 Dec 2023
- Phase
- Interventional
- 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
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- patient < 18 year-old
- patients with SD/THE
- control group :
- patients with tufting enteropathy and short bowel syndrome.
Who cannot join
- child among whom the parents or the legal representatives refused that their child participates in this study
Trial locations and contacts
1 site in 1 country.
France1 site
Assistance Publique Hopitaux de Marseille
Marseille
ALEXANDRE FABRE, alexandre.fabre@ap-hm.fr
About this study
Official title: Tricho-hepato-enteric Syndrome: From Abnormal RNA Decay to Disease Clinical and Biological Characterization of Patients and Collection of Samples -THE-RNA
Objectives: Collect clinical and biological data about patients with SD/THE, collect samples of patients; create a secure on line database to collect worldwide data about SD/THE Partners : APHM, HCL, APHP
Currently10 patients (8 with TTC37 mutations and 2 with SKIV2l mutations) present a SD/THE and are managed in France in 5 different centers (Marseille, Paris Trousseau, Paris Necker, Paris Robert Debrés, and Lyon). Most of them are followed in hepato-gastro-enterology units for their intractable diarrhea. Three aspects of the disease: intractable diarrhea, immune defect and liver disease are responsible for the main part of the burden of the disease .For each aspect, the investigators will propose a close follow-up with collection of clinical, biochemical, functional and microbial data.
Collect of clinical date: during a programmed consultation clinical data about symptom will be collected twice a year. A detailed form will be used for better delineation of the symptoms. These data included growth, symptom (diarrhea, pain …), and clinical signs. Most of these children have recurrent sample for follow up. During them some blood will be take for study the immune side but also the platelet function.
- Conditions
- Tricho Hepato Enteric Syndrome
- Being tested
- Blood sample, Fecal samples, Neuropsychological
- Medical subject headings
- Trichohepatoenteric Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sampleBiological
Blood samples to assess biological parameters such as:
Fecal samplesOther
Microbiota analysis
NeuropsychologicalBehavioural
Neuropsychological assessment
| Study group | Role | What they receive |
|---|---|---|
| patients with SD/THE | Experimental | Not described Receives: Biological: Blood sample; Other: Fecal samples; Behavioral: Neuropsychological |
| control group | Placebo comparator | Not described Receives: Biological: Blood sample; Other: Fecal samples |
What is being measured
The primary outcome is the main question the study is designed to answer.
Assessment of detailed clinical characteristics of the phenotype of Tricho-hepato-enteric syndrome
Existence or absence of 9 clinical signs suggestive of Tricho-hepato-enteric syndrome, to know:
- neonatal characteristics,
- existence or not of the 9 clinical signs suggestive of the disease,
- initial symptoms and chronology leading to the diagnosis,
- organ damage,
- nutrition,
- treatment,
- growth,
- dermatological evaluation,
- hepatic evaluation,
- neuropsychological evaluation (score of WPPSI-III, WISC-IV, WAIS-IV),
- quality of life scale (VSPA in children between 3 and 17 years old and WHOQUOL in adults),
- self-report anxiety scale (STAI in children over 8 years)
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Aug 2020
- Study start1 Sep 2020 (estimated)
- Primary completion31 Aug 2023 (estimated)
- Study completion31 Dec 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Tricho Hepato Enteric SyndromeStudies of the same condition, open and under way.
- More trials run by Assistance Publique Hopitaux De MarseilleThe 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 N/A
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique Hopitaux De Marseille
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Jean-Olivier Arnaud, Study director, Assistance Publique Hopitaux De Marseille
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04499040
- Sponsor's protocol ID
- 2016-42
- Acronym
- THE-RNA
- Status last verified
- Jul 2020
- First submitted
- 31 Aug 2016
- Last updated
- 5 Aug 2020
- Results posted
- No
- Data monitoring committee
- No
- 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 Aug 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Tricho-hepato-enteric Syndrome: From Abnormal RNA Decay to Disease Clinical and Biological Characterization of Patients and Collection of Samples -THE-RNA
- ClinicalTrials.gov ID
- NCT04499040
- Acronym / sponsor ID
- THE-RNA / 2016-42
- Conditions
- Tricho Hepato Enteric Syndrome
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Assistance Publique Hopitaux De MarseilleUniversity, hospital or other
- Study start
- 1 Sep 2020 (estimated)
- Primary completion
- 31 Aug 2023 (estimated)
- Study completion
- 31 Dec 2023 (estimated)
- First posted
- 5 Aug 2020 (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.
Objectives: Collect clinical and biological data about patients with SD/THE, collect samples of patients; create a secure on line database to collect worldwide data about SD/THE Partners : APHM, HCL, APHP
Currently10 patients (8 with TTC37 mutations and 2 with SKIV2l mutations) present a SD/THE and are managed in France in 5 different centers (Marseille, Paris Trousseau, Paris Necker, Paris Robert Debrés, and Lyon). Most of them are followed in hepato-gastro-enterology units for their intractable diarrhea. Three aspects of the disease: intractable diarrhea, immune defect and liver disease are responsible for the main part of the burden of the disease .For each aspect, the investigators will propose a close follow-up with collection of clinical, biochemical, functional and microbial data.
Collect of clinical date: during a programmed consultation clinical data about symptom will be collected twice a year. A detailed form will be used for better delineation of the symptoms. These data included growth, symptom (diarrhea, pain …), and clinical signs. Most of these children have recurrent sample for follow up. During them some blood will be take for study the immune side but also the platelet function.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| patients with SD/THE | Experimental | Biological: Blood sample, Other: Fecal samples, Behavioral: Neuropsychological |
| control group | Placebo comparator | Biological: Blood sample, Other: Fecal samples |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- patient < 18 year-old
- patients with SD/THE
- patients with tufting enteropathy and short bowel syndrome.
Key exclusion criteria (1 listed)
- child among whom the parents or the legal representatives refused that their child participates in this study
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 |
|---|---|---|
| Blood sampleBlood samples to assess biological parameters such as: | Biological | control group, patients with SD/THE |
| Fecal samplesMicrobiota analysis | Other | control group, patients with SD/THE |
| NeuropsychologicalNeuropsychological assessment | Behavioural | patients with SD/THE |
Primary outcome
Assessment of detailed clinical characteristics of the phenotype of Tricho-hepato-enteric syndrome
Time frame: 3 years
Existence or absence of 9 clinical signs suggestive of Tricho-hepato-enteric syndrome, to know: * neonatal characteristics, * existence or not of the 9 clinical signs suggestive of the disease, * initial symptoms and chronology leading to the diagnosis, * organ damage, * nutrition, * treatment, * growth, * dermatological evaluation, * hepatic evaluation, * neuropsychological evaluation (score of WPPSI-III, WISC-IV, WAIS-IV), * quality of life scale (VSPA in children between 3 and 17 years old and WHOQUOL in adults), * self-report anxiety scale (STAI in children over 8 years)
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Aug 2020.
- Individual participant dataSharing planned: No
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.
Jean-Olivier Arnaud study director
Assistance Publique Hopitaux De Marseille
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood sample, Fecal samples and Neuropsychological in people with Tricho Hepato Enteric Syndrome, run by Assistance Publique Hopitaux De Marseille at 1 site in France.
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 4 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 Aug 2020. 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 France. 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. 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.
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 Alexandre FABRE (491382747 ext. +33, alexandre.fabre@ap-hm.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Assessment of detailed clinical characteristics of the phenotype of Tricho-hepato-enteric syndrome (time frame: 3 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 Aug 2020.