Arthrogryposis Multiplex Congenita (AMC)PARARTNCT05673265
Pediatric and Adult Registry for Patients With ARThrogryposis
An observational study of Arthrogryposis Multiplex Congenita (AMC), run by University Hospital, Grenoble at 1 site in France.
Trial summary
The aim of the study is Epidemiological Evaluation of a single-centre national cohort of patients with Arthrogryposis multiplex congenita (AMC) Read more about this study
- Who is it for?
- Ages Up to 90 yearsHealthy volunteers can take part
- Conditions the study is for
- Arthrogryposis Multiplex Congenita (AMC)
- How many people
- 230 participants
- Where
- 1 siteFrance
- Study dates
- 1 Nov 2021to 1 Jul 2023
- 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 Up to 90 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Pediatric and adult individuals are addressed to the reference centre of the University Hospital Grenoble Alpes for arthrogryposis multiplex congenita (AMC). The assessment is based on multidisciplinary consultations (physical medicine and rehabilitation, orthopedics, genetics for children and adults, and pulmonologist, rheumatologist for adults). The aim of the study is to obtain more comprehensive prognostic data, particularly in relation to complications and possible comorbidities related to older ages.
Who may be able to join
- Patients diagnosed with arthrogryposis multiplex congenita prenatally or postnatally seen at least once at the reference center from January 2008 to July 2023.
- pediatric and adult individuals.
- Addressed to the reference centre of the University Hospital Grenoble Alpes.
- living in France.
Who cannot join
- Individuals who did not consent to use their data (or the data of their children).
- Individuals with less than two affected joint levels.
- Individuals under guardianship or deprived of liberty.
- Inability to collect comprehensive medical information (individuals recently arrived in France)
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
CHU Grenoble Alpes
La Tronche, 38700
Klaus DIETERICH, MD, PhD, 0476767285, kdieterich@chu-grenoble.fr
About this study
The aim of the study is Epidemiological Evaluation of a single-centre national cohort of patients with Arthrogryposis multiplex congenita (AMC)
Read the detailed description
Arthrogryposis multiplex congenita (AMC) is a group of rare diseases characterized by joint limitation at least two distinct articular levels at birth which represents about 100 to 200 births with AMC in France per year.
The Reference Center (CR) at Grenoble Alpes University Hospital set up multidisciplinary consultations for pediatric and adult patients with AMC such as (MPR, orthopedics, genetics for children and adults, and pulmonologist, rheumatologist for adults , also including individual or group therapeutic education sessions) .
For develop the diagnostic and follow-up approach, the Reference center initiated the drafting of a diagnostic and care protocol (PNDS), on the one hand based on the data of the literature and on the other hand on expert opinions.
The project is based on four elements :
- This project is pediatric and adult registry. It should be possible to obtain more comprehensive prognostic data, particularly in relation to complications and possible comorbidities related to older ages.
- The Recruitment of the patient is done immediately in France who's followed at the reference center in Grenoble Alpes University Hospital.
3-There are several ways for patient addressing. Indeed these are also addressed by the professionals or patients contact the center directly
4-The Patient's assessments are multidisciplinary from the outset, this should lead to get comprehensive functional and diagnostic data.
- Conditions
- Arthrogryposis Multiplex Congenita (AMC)
- Medical subject headings
- Arthrogryposis
What is being measured
The primary outcome is the main question the study is designed to answer.
Frequency of etiologies
The etiologies will be drawn up either by the confirmation of a genetic cause by a high-throughput sequencing analysis (NGS), a chromosomal analysis on a DNA chip (ACPA) and / or a leukocyte karyotype, or on anamnestic, clinical and paraclinical data for entities currently without genetic cause retained
Measured: 2 years
Secondary outcomes (10)
Data from complementary examinations (molecular analyses)
Data from complementary examinations (molecular analyses); patients admitted since 2008 to ensure the quality and completeness of the data collected on the historical cohort)
Measured: 2 years
Data from complementary examinations ( medical imaging including muscular MRI)
Data from complementary examinations ( medical imaging including muscular MRI); patients admitted since 2008 to ensure the quality and completeness of the data collected on the historical cohort)
Measured: 2 years
Data from complementary examinations(biochemical analyses)
Data from complementary examinations ( biochemical analyses); patients admitted since 2008 to ensure the quality and completeness of the data collected on the historical cohort)
Measured: 2 years
Data from complementary examinations (pathology)
Data from complementary examinations (pathology); patients admitted since 2008 to ensure the quality and completeness of the data collected on the historical cohort)
Measured: 2 years
Results of phenotypic and functional assessment
Physical examination
Measured: 2 years
Results of phenotypic and functional assessment
Antenatal data
Measured: 2 years
Results of phenotypic and functional assessment
Medical Research Council(MRC) score for muscle strength
Measured: 2 years
Results of phenotypic and functional assessment
Goniometry for joint involvement
Measured: 2 years
Results of phenotypic and functional assessment
Measurement of functional independence(FIM)
Measured: 2 years
Number and types of surgical procedures
Number and types of surgical procedures
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jan 2023
- Study start1 Nov 2021
- Primary completion1 Jul 2023 (estimated)
- Study completion1 Jul 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Arthrogryposis Multiplex Congenita (AMC)Studies of the same condition, open and under way.
- More trials run by University Hospital, GrenobleThe 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
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 230 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Grenoble
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Klaus DIETERICH, MD, PhD, Principal investigator, Univ. Grenoble Alpes Inserm U1209 IAB CHU Grenoble Alpes
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05673265
- Sponsor's protocol ID
- 38RC21.055
- Acronym
- PARART
- Status last verified
- Jun 2022
- First submitted
- 20 Sep 2022
- Last updated
- 6 Jan 2023
- 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 6 Jan 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pediatric and Adult Registry for Patients With ARThrogryposis
- ClinicalTrials.gov ID
- NCT05673265
- Acronym / sponsor ID
- PARART / 38RC21.055
- Conditions
- Arthrogryposis Multiplex Congenita (AMC)
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 230 participants (estimated)
- Lead sponsor
- University Hospital, GrenobleUniversity, hospital or other
- Study start
- 1 Nov 2021 (actual)
- Primary completion
- 1 Jul 2023 (estimated)
- Study completion
- 1 Jul 2023 (estimated)
- First posted
- 6 Jan 2023 (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 aim of the study is Epidemiological Evaluation of a single-centre national cohort of patients with Arthrogryposis multiplex congenita (AMC)
Detailed description
Arthrogryposis multiplex congenita (AMC) is a group of rare diseases characterized by joint limitation at least two distinct articular levels at birth which represents about 100 to 200 births with AMC in France per year.
The Reference Center (CR) at Grenoble Alpes University Hospital set up multidisciplinary consultations for pediatric and adult patients with AMC such as (MPR, orthopedics, genetics for children and adults, and pulmonologist, rheumatologist for adults , also including individual or group therapeutic education sessions) .
For develop the diagnostic and follow-up approach, the Reference center initiated the drafting of a diagnostic and care protocol (PNDS), on the one hand based on the data of the literature and on the other hand on expert opinions.
The project is based on four elements :
- This project is pediatric and adult registry. It should be possible to obtain more comprehensive prognostic data, particularly in relation to complications and possible comorbidities related to older ages.
- The Recruitment of the patient is done immediately in France who's followed at the reference center in Grenoble Alpes University Hospital.
3-There are several ways for patient addressing. Indeed these are also addressed by the professionals or patients contact the center directly
4-The Patient's assessments are multidisciplinary from the outset, this should lead to get comprehensive functional and diagnostic data.
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Ages
- Up to 90 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Pediatric and adult individuals are addressed to the reference centre of the University Hospital Grenoble Alpes for arthrogryposis multiplex congenita (AMC). The assessment is based on multidisciplinary consultations (physical medicine and rehabilitation, orthopedics, genetics for children and adults, and pulmonologist, rheumatologist for adults). The aim of the study is to obtain more comprehensive prognostic data, particularly in relation to complications and possible comorbidities related to older ages.
Key inclusion criteria (4 listed)
- Patients diagnosed with arthrogryposis multiplex congenita prenatally or postnatally seen at least once at the reference center from January 2008 to July 2023.
- pediatric and adult individuals.
- Addressed to the reference centre of the University Hospital Grenoble Alpes.
- living in France.
Key exclusion criteria (4 listed)
- Individuals who did not consent to use their data (or the data of their children).
- Individuals with less than two affected joint levels.
- Individuals under guardianship or deprived of liberty.
- Inability to collect comprehensive medical information (individuals recently arrived in France)
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
Frequency of etiologies
Time frame: 2 years
The etiologies will be drawn up either by the confirmation of a genetic cause by a high-throughput sequencing analysis (NGS), a chromosomal analysis on a DNA chip (ACPA) and / or a leukocyte karyotype, or on anamnestic, clinical and paraclinical data for entities currently without genetic cause retained
10 secondary outcomes
Data from complementary examinations (molecular analyses)
Time frame: 2 years
Data from complementary examinations ( medical imaging including muscular MRI)
Time frame: 2 years
Data from complementary examinations(biochemical analyses)
Time frame: 2 years
Data from complementary examinations (pathology)
Time frame: 2 years
Results of phenotypic and functional assessment
Time frame: 2 years
Results of phenotypic and functional assessment
Time frame: 2 years
Results of phenotypic and functional assessment
Time frame: 2 years
Results of phenotypic and functional assessment
Time frame: 2 years
Results of phenotypic and functional assessment
Time frame: 2 years
Number and types of surgical procedures
Time frame: 2 years
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Jan 2023.
- Individual participant dataSharing planned: No
Related trials for Arthrogryposis Multiplex Congenita (AMC)
Recruiting
Technical Feasibility Study of Ultrasound Muscle Imaging in Antenatal Ultrasound
Arthrogryposis Multiplex Congenita (AMC)
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.
Klaus DIETERICH, MD, PhD principal investigator
Univ. Grenoble Alpes Inserm U1209 IAB CHU Grenoble Alpes
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 Arthrogryposis Multiplex Congenita (AMC), run by University Hospital, Grenoble 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 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: status not confirmed, as of the sponsor's last update on 6 Jan 2023. 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. 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 Sarah UNEISI, PharmD (0476768709, SUneisi@chu-grenoble.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Frequency of etiologies (time frame: 2 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 6 Jan 2023.