CamptodactylyCACPNCT07468461
CACP: Study on Camptodactyly - Arthropathy - Coxa Vara - Pericarditis (CACP) Syndrome
An observational study of Camptodactyly and Arthropathy, run by Meyer Children's Hospital IRCCS at 10 sites in 3 countries.
Trial summary
CACP syndrome is a rare autosomal recessive disorder characterized by the triad of camptodactyly, non-inflammatory arthropathy with synovial hyperplasia, and coxa vara. Occasionally, non-inflammatory pericarditis and pleural effusion may also occur. This syndrome is likely underdiagnosed due to its rarity. Read more about this study
- Who is it for?
- Ages Up to 18 years
- Conditions the study is for
- Camptodactyly, Arthropathy, Coxa Vara
- How many people
- 15 participants
- Where
- 10 sitesin 3 countries
- Study dates
- 1 Aug 2025to 1 Jan 2038
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Study population will be selected at the participating centers according to inclusion criteria.
Who may be able to join
- Patients with clinical diagnosis and genetic confirmation of CACP syndrome.
- Patients diagnosed during pediatric age (<18 years).
- Time frame: Patients diagnosed with CACP between January 2005 and January 1, 2026.
- Informed consent obtained from parents or legal guardians.
Who cannot join
- Patients without genetic confirmation of the diagnosis.
- Lack of informed consent from parents or legal guardians.
- Patients diagnosed before January 1, 2005, or after January 1, 2026.
Trial locations and contacts
10 sites in 3 countries. Contact the study team or a site near you to ask about taking part.
10 sites in 3 countries
Italy8 sites, 8 recruiting
- Not yet recruiting
Ospedale Pediatrico Giovanni XXIII
Bari
Francesco Latorre
- Recruiting
Rheumatology Unit, Meyer Children's Hospital
Florence
Teresa Giani, MD, PhD, +39 0555662924, teresa.giani@gmail.com
- Recruiting
IRCCS Istituto Giannina Gaslini,
Genova
Riccardo Papa
- Not yet recruiting
ASST Fatebenefratelli
Milan
Angela Mauro
- Recruiting
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Milan
Giovanni Filocamo
- Not yet recruiting
Azienda Ospedaliera di Padova
Padova
Alessandra Meneghel
- Not yet recruiting
Santa Maria Goretti Hospital
Roma
Emanuela Delgiudice
- Not yet recruiting
Centro di Reumatologia Pediatrica
Udine
Giorgia Martini
Spain1 site, 1 recruiting
- Not yet recruiting
Hiospedal Sant Joan de Déu
Barcelona, 208950
Jordi Anton Lopez
Turkey (Türkiye)1 site, 1 recruiting
- Not yet recruiting
Ankara Pediatrik Romatoloji Bilim Dalý Hacettepe Üniversitesi
Ankara, 06105
Ezgi Deniz Batu
About this study
Official title: Profiling Camptodactyly - Arthropathy - Coxa Vara - Pericarditis (CACP) Syndrome: A Multicenter European Study
CACP syndrome is a rare autosomal recessive disorder characterized by the triad of camptodactyly, non-inflammatory arthropathy with synovial hyperplasia, and coxa vara. Occasionally, non-inflammatory pericarditis and pleural effusion may also occur. This syndrome is likely underdiagnosed due to its rarity. Epidemiological information is limited to isolated case reports or small patient series, with the largest reported cohort including 35 patients.
The genetic cause of CACP syndrome is associated with mutations in the PRG4 gene, located on chromosome 1q31.1. While clinical signs (camptodactyly, non-inflammatory arthropathy, and coxa vara) and radiological findings suggest the diagnosis, genetic testing confirms it by identifying pathogenic biallelic mutations in PRG4.
Read more
To date, twenty-two mutations have been identified, all leading to premature stop codons and the absence of functional lubricin. However, the exact pathophysiology of CACP syndrome remains incompletely understood.
Clinical manifestations of CACP syndrome can vary, even within the same family. The progressive and slow onset can initially present as an incomplete clinical picture. However, camptodactyly (85- 100%) and arthropathy (100%) are constant features.
Although genetically homogeneous, CACP exhibits significant intra- and interfamilial phenotypic variability due to secondary genetic factors, environmental modifiers, and complex molecular mechanisms.
Camptodactyly is symmetrical, with variable distribution. It may affect fingers or toes and can be congenital or develop during childhood.
Arthropathy is symmetrical, primarily involving large joints (wrists, knees, ankles, elbows, and hips).
Coxa vara is present in 50-90% of cases, is progressive, and tends to worsen with age. Spinal abnormalities such as lordosis, scoliosis, and kyphosis are possible, though the cervical spine is generally spared.
The articular manifestations of CACP syndrome may mimic juvenile idiopathic arthritis (JIA), and patients are often initially misdiagnosed and treated inappropriately.
Joints appear swollen due to non-inflammatory synovial effusion and synovial thickening. They develop contractures, functional limitations, and sometimes musculoskeletal pain.
Non-inflammatory pericarditis is reported in 30% of published cases, with variable clinical courses that may require surgical intervention in cases of constrictive pericarditis.
The routine pathway of assessments and follow-up for patients with CACP syndrome includes an initial detailed evaluation and regular monitoring. Following the diagnosis, which is based on clinical history, imaging studies, and genetic confirmation of PRG4 mutations, patients undergo periodic clinical visits, generally scheduled every six months. During these visits, the progression of the disease, articular symptoms (e.g., camptodactyly, mobility limitations), and possible extraarticular complications, such as pericarditis, are assessed.
Radiological (e.g., X-rays, MRI) and laboratory assessments, however, can be spaced out over longer intervals compared to the schedule of clinical visits, typically every 1-2 years, unless specific indications arise. Nonetheless, these examinations may be requested based on contingent clinical needs, such as a sudden worsening of symptoms or suspicion of complications. This flexible approach helps to balance thorough disease monitoring with minimizing the burden on patients, while ensuring personalized and timely management of the condition.
At present, there is no specific pharmacological treatment for CACP. Management is primarily symptomatic and aimed at preventing joint deformities and extra-articular complications.
Currently, no experimental therapies are available for CACP syndrome, but future research could explore gene therapy, regenerative medicine, and biologics.
This study, involving pediatric and pediatric rheumatology centers across Italy and Europe, aims to collect epidemiological, clinical, and therapeutic data from a large cohort of patients. Its goals include better defining the disease's characteristics, understanding its natural history, and evaluating different therapeutic approaches and their efficacy. The study will also analyze potential genotypephenotype correlations.
- Conditions
- Camptodactyly, Arthropathy, Coxa Vara, Pericarditis
- Keywords
- Camptodactyly - Arthropathy - Coxa Vara - Pericarditis (CACP) Syndrome
- Medical subject headings
- Joint Diseases, Coxa Vara, Pericarditis, Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence of CACP Syndrome
Number of newly diagnosed cases of CACP syndrome identified during the study period, reported per population at risk.
Measured: From enrollment to the next 10 years
Geographic and Ethnic Distribution of CACP Cases
Number and proportion of confirmed CACP cases per participating country and center and stratified by self-reported ethnicity.
Measured: From the enrollment to the next 10 years
Clinical Characteristics
- Frequency of Individual Clinical Manifestations: Proportion of patients presenting with each predefined clinical feature (camptodactyly, non-inflammatory arthropathy, coxa vara, non-inflammatory pericarditis), reported individually as present/absent.
- Interindividual Clinical Variability: Exploration of variations in symptom presentation and disease progression among individuals.
Measured: From enrollment to the next 10 years
Disease progression
Assessment of the clinical and radiological course of CACP syndrome, including measurement of disease severity and progression rate.
Measured: From enrollment to the next 10 years
Disease Complications
- Incidence of Complications: Proportion of patients developing predefined complications (e.g., constrictive pericarditis, pleural effusion), each reported separately.
- Management of Complications: Type and frequency of therapeutic interventions used for the management of CACP-related complications.
Measured: From enrollment to the next 10 years
Distribution of PRG4 Gene Variants
- Number and proportion of participants carrying each identified pathogenic or likely pathogenic variant in the PRG4 gene.
- Classification of participants into subgroups based on specific PRG4 variants, with descriptive comparison of associated clinical characteristics.
Measured: from the enrollment to the next 10 years
Genotype-Phenotype Association
Statistical association between specific PRG4 variants and predefined clinical manifestations or severity disease.
Measured: From enrollment to the next 10 years
Geographic and Ethic Distribution of PRG4 Variants
Number and proportion of specific PRG4 variants stratified by country and center and ethnicity.
Measured: From enrollment to the next 10 years
Post-Diagnosis Treatments
After a definitive diagnosis, treatments focus on symptom management and improving patients' quality of life. Commonly used medications include:
- Non-steroidal anti-inflammatory drugs (NSAIDs)
- Corticosteroids
- Intra-articular hyaluronic acid (HA) injections
Measured: from the enrollment to the next 10 years
Secondary outcomes (7)
Number of participants with treatment-related adverse events as assessed by CTCAE v4.0
Treatment safety will be evaluated by recording the number and type of treatment-related adverse events as assessed by CTCAE v4.0 during the study period.
Measured: from the enrollment to the next 10 years
Change from baseline in functional disability assessed by Childhood Health Assessment Questionnaire (CHAQ) score
Functional disability and quality of life will be assessed using the Childhood Health Assessment Questionnaire (CHAQ). The CHAQ evaluates motor function, ability to perform daily activities, and level of autonomy. Scores range from 0 to 3, with higher scores indicating greater disability. The change in CHAQ score from baseline to follow-up visits will be analyzed.
Measured: from the enrollment to the next 10 years
Change from baseline in musculoskeletal pain intensity assessed by Visual Analogue Scale (VAS)
Pain intensity will be evaluated using the Visual Analogue Scale (VAS), a continuous scale ranging from 0 (no pain) to 10 (worst imaginable pain). The change in VAS score from baseline during follow-up will be analyzed to assess the relationship between pain, disease progression, and treatment response.
Measured: from enrollement to the next 10 years
Change from baseline in patient global well-being assessed by Patient Global Assessment (PGA) scale
Psychological and overall well-being will be assessed using the Patient Global Assessment (PGA), a patient-reported outcome measured on a visual analogue scale from 0 to 10, where higher scores indicate worse perceived health status. Changes from baseline will be analyzed during follow-up.
Measured: from enrollement to the next 10 years
Time from symptom onset to confirmed diagnosis of CACP syndrome
The time between the first reported clinical symptoms and the confirmed diagnosis of CACP syndrome will be recorded for each participant. The average diagnostic delay will be calculated and reported in months.
Measured: from the enrollment to the next 10 years
Number of participants with prior misdiagnosis before confirmed diagnosis of CACP syndrome
The number and proportion of participants who received an alternative diagnosis prior to the confirmed diagnosis of CACP syndrome will be recorded. Misdiagnoses may include conditions such as juvenile idiopathic arthritis or other rheumatologic or orthopedic disorders.
Measured: from the enrollement to the next 10 years
Types of alternative diagnoses prior to confirmed CACP diagnosis
The different clinical diagnoses assigned before the final diagnosis of CACP syndrome will be collected and categorized to identify the most common diagnostic errors leading to delayed recognition of CACP syndrome.
Measured: from the enrollement to the next 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Mar 2026
- Study start1 Aug 2025
- Primary completion1 Jan 2029 (estimated)
- Study completion1 Jan 2038 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for CamptodactylyStudies of the same condition, open and under way.
- More trials run by Meyer Children's Hospital IRCCSThe 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
- Retrospective
- Enrolment
- 15 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Meyer Children's Hospital IRCCS
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Teresa Giani, Meyer Children's Hospital IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07468461
- Sponsor's protocol ID
- CACP
- Acronym
- CACP
- Status last verified
- Mar 2026
- First submitted
- 17 Feb 2026
- Last updated
- 16 Mar 2026
- Results posted
- No
Publications
Al-Mayouf SM, Almutairi N, Alismail K. The Efficacy of Yttrium-90 Radiosynovectomy in Patients with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome. Mol Imaging Radionucl Ther. 2017 Feb 5;26(1):33-37. doi: 10.4274/mirt.29484.
PubMed 28291008Albuhairan I, Al-Mayouf SM. Camptodactyly-arthropathy-coxavara-pericarditis syndrome in Saudi Arabia: clinical and molecular genetic findings in 22 patients. Semin Arthritis Rheum. 2013 Oct;43(2):292-6. doi: 10.1016/j.semarthrit.2012.11.004. Epub 2013 Jan 2.
PubMed 23290693Singh S, Badiger VA, Balan S, Nampoothiri S, Rao AP, Shah H, Bhavani GS, Narayanan DL, Girisha KM. Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Clin Dysmorphol. 2024 Oct 1;33(4):152-159. doi: 10.1097/MCD.0000000000000500. Epub 2024 Mar 22.
PubMed 38856641Ciullini Mannurita S, Vignoli M, Bianchi L, Kondi A, Gerloni V, Breda L, Ten Cate R, Alessio M, Ravelli A, Falcini F, Gambineri E. CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort. Eur J Hum Genet. 2014 Feb;22(2):197-201. doi: 10.1038/ejhg.2013.123. Epub 2013 Jun 12.
PubMed 23756439Sathiyaseelan SL, Krishna K, Agarwal D, Oswal JS. Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. BMJ Case Rep. 2024 Jul 1;17(7):e260146. doi: 10.1136/bcr-2024-260146.
PubMed 38955384Yilmaz S, Uludag Alkaya D, Kasapcopur O, Barut K, Akdemir ES, Celen C, Youngblood MW, Yasuno K, Bilguvar K, Gunel M, Tuysuz B. Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. Mol Genet Genomic Med. 2018 Mar;6(2):230-248. doi: 10.1002/mgg3.364. Epub 2018 Feb 4.
PubMed 29397575
Study at a glance
From the registry record, last updated by the sponsor on 16 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Profiling Camptodactyly - Arthropathy - Coxa Vara - Pericarditis (CACP) Syndrome: A Multicenter European Study
- ClinicalTrials.gov ID
- NCT07468461
- Acronym / sponsor ID
- CACP / CACP
- Conditions
- Camptodactyly, Arthropathy, Coxa Vara, Pericarditis
- Keywords
- Camptodactyly - Arthropathy - Coxa Vara - Pericarditis (CACP) Syndrome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 15 participants (estimated)
- Lead sponsor
- Meyer Children's Hospital IRCCSUniversity, hospital or other
- Study start
- 1 Aug 2025 (actual)
- Primary completion
- 1 Jan 2029 (estimated)
- Study completion
- 1 Jan 2038 (estimated)
- First posted
- 12 Mar 2026 (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.
CACP syndrome is a rare autosomal recessive disorder characterized by the triad of camptodactyly, non-inflammatory arthropathy with synovial hyperplasia, and coxa vara. Occasionally, non-inflammatory pericarditis and pleural effusion may also occur. This syndrome is likely underdiagnosed due to its rarity. Epidemiological information is limited to isolated case reports or small patient series, with the largest reported cohort including 35 patients.
The genetic cause of CACP syndrome is associated with mutations in the PRG4 gene, located on chromosome 1q31.1. While clinical signs (camptodactyly, non-inflammatory arthropathy, and coxa vara) and radiological findings suggest the diagnosis, genetic testing confirms it by identifying pathogenic biallelic mutations in PRG4.
To date, twenty-two mutations have been identified, all leading to premature stop codons and the absence of functional lubricin. However, the exact pathophysiology of CACP syndrome remains incompletely understood.
Clinical manifestations of CACP syndrome can vary, even within the same family. The progressive and slow onset can initially present as an incomplete clinical picture. However, camptodactyly (85- 100%) and arthropathy (100%) are constant features.
Although genetically homogeneous, CACP exhibits significant intra- and interfamilial phenotypic variability due to secondary genetic factors, environmental modifiers, and complex molecular mechanisms.
Camptodactyly is symmetrical, with variable distribution. It may affect fingers or toes and can be congenital or develop during childhood.
Arthropathy is symmetrical, primarily involving large joints (wrists, knees, ankles, elbows, and hips).
Coxa vara is present in 50-90% of cases, is progressive, and tends to worsen with age. Spinal abnormalities such as lordosis, scoliosis, and kyphosis are possible, though the cervical spine is generally spared.
The articular manifestations of CACP syndrome may mimic juvenile idiopathic arthritis (JIA), and patients are often initially misdiagnosed and treated inappropriately.
Joints appear swollen due to non-inflammatory synovial effusion and synovial thickening. They develop contractures, functional limitations, and sometimes musculoskeletal pain.
Non-inflammatory pericarditis is reported in 30% of published cases, with variable clinical courses that may require surgical intervention in cases of constrictive pericarditis.
The routine pathway of assessments and follow-up for patients with CACP syndrome includes an initial detailed evaluation and regular monitoring. Following the diagnosis, which is based on clinical history, imaging studies, and genetic confirmation of PRG4 mutations, patients undergo periodic clinical visits, generally scheduled every six months. During these visits, the progression of the disease, articular symptoms (e.g., camptodactyly, mobility limitations), and possible extraarticular complications, such as pericarditis, are assessed.
Radiological (e.g., X-rays, MRI) and laboratory assessments, however, can be spaced out over longer intervals compared to the schedule of clinical visits, typically every 1-2 years, unless specific indications arise. Nonetheless, these examinations may be requested based on contingent clinical needs, such as a sudden worsening of symptoms or suspicion of complications. This flexible approach helps to balance thorough disease monitoring with minimizing the burden on patients, while ensuring personalized and timely management of the condition.
At present, there is no specific pharmacological treatment for CACP. Management is primarily symptomatic and aimed at preventing joint deformities and extra-articular complications.
Currently, no experimental therapies are available for CACP syndrome, but future research could explore gene therapy, regenerative medicine, and biologics.
This study, involving pediatric and pediatric rheumatology centers across Italy and Europe, aims to collect epidemiological, clinical, and therapeutic data from a large cohort of patients. Its goals include better defining the disease's characteristics, understanding its natural history, and evaluating different therapeutic approaches and their efficacy. The study will also analyze potential genotypephenotype correlations.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Study population will be selected at the participating centers according to inclusion criteria.
Key inclusion criteria (4 listed)
- Patients with clinical diagnosis and genetic confirmation of CACP syndrome.
- Patients diagnosed during pediatric age (<18 years).
- Time frame: Patients diagnosed with CACP between January 2005 and January 1, 2026.
- Informed consent obtained from parents or legal guardians.
Key exclusion criteria (3 listed)
- Patients without genetic confirmation of the diagnosis.
- Lack of informed consent from parents or legal guardians.
- Patients diagnosed before January 1, 2005, or after January 1, 2026.
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
Incidence of CACP Syndrome
Time frame: From enrollment to the next 10 years
Number of newly diagnosed cases of CACP syndrome identified during the study period, reported per population at risk.
Geographic and Ethnic Distribution of CACP Cases
Time frame: From the enrollment to the next 10 years
Number and proportion of confirmed CACP cases per participating country and center and stratified by self-reported ethnicity.
Clinical Characteristics
Time frame: From enrollment to the next 10 years
* Frequency of Individual Clinical Manifestations: Proportion of patients presenting with each predefined clinical feature (camptodactyly, non-inflammatory arthropathy, coxa vara, non-inflammatory pericarditis), reported individually as present/absent. * Interindividual Clinical Variability: Exploration of variations in symptom presentation and disease progression among individuals.
Disease progression
Time frame: From enrollment to the next 10 years
Assessment of the clinical and radiological course of CACP syndrome, including measurement of disease severity and progression rate.
Disease Complications
Time frame: From enrollment to the next 10 years
* Incidence of Complications: Proportion of patients developing predefined complications (e.g., constrictive pericarditis, pleural effusion), each reported separately. * Management of Complications: Type and frequency of therapeutic interventions used for the management of CACP-related complications.
Distribution of PRG4 Gene Variants
Time frame: from the enrollment to the next 10 years
* Number and proportion of participants carrying each identified pathogenic or likely pathogenic variant in the PRG4 gene. * Classification of participants into subgroups based on specific PRG4 variants, with descriptive comparison of associated clinical characteristics.
Genotype-Phenotype Association
Time frame: From enrollment to the next 10 years
Statistical association between specific PRG4 variants and predefined clinical manifestations or severity disease.
Geographic and Ethic Distribution of PRG4 Variants
Time frame: From enrollment to the next 10 years
Number and proportion of specific PRG4 variants stratified by country and center and ethnicity.
Post-Diagnosis Treatments
Time frame: from the enrollment to the next 10 years
After a definitive diagnosis, treatments focus on symptom management and improving patients' quality of life. Commonly used medications include: * Non-steroidal anti-inflammatory drugs (NSAIDs) * Corticosteroids * Intra-articular hyaluronic acid (HA) injections
7 secondary outcomes
Number of participants with treatment-related adverse events as assessed by CTCAE v4.0
Time frame: from the enrollment to the next 10 years
Change from baseline in functional disability assessed by Childhood Health Assessment Questionnaire (CHAQ) score
Time frame: from the enrollment to the next 10 years
Change from baseline in musculoskeletal pain intensity assessed by Visual Analogue Scale (VAS)
Time frame: from enrollement to the next 10 years
Change from baseline in patient global well-being assessed by Patient Global Assessment (PGA) scale
Time frame: from enrollement to the next 10 years
Time from symptom onset to confirmed diagnosis of CACP syndrome
Time frame: from the enrollment to the next 10 years
Number of participants with prior misdiagnosis before confirmed diagnosis of CACP syndrome
Time frame: from the enrollement to the next 10 years
Types of alternative diagnoses prior to confirmed CACP diagnosis
Time frame: from the enrollement to the next 10 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Mar 2026.
- Background: PubMed 28291008Al-Mayouf SM, Almutairi N, Alismail K. The Efficacy of Yttrium-90 Radiosynovectomy in Patients with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome. Mol Imaging Radionucl Ther. 2017 Feb 5;26(1):33-37. doi: 10.4274/mirt.29484.
- Background: PubMed 23290693Albuhairan I, Al-Mayouf SM. Camptodactyly-arthropathy-coxavara-pericarditis syndrome in Saudi Arabia: clinical and molecular genetic findings in 22 patients. Semin Arthritis Rheum. 2013 Oct;43(2):292-6. doi: 10.1016/j.semarthrit.2012.11.004. Epub 2013 Jan 2.
- Background: PubMed 38856641Singh S, Badiger VA, Balan S, Nampoothiri S, Rao AP, Shah H, Bhavani GS, Narayanan DL, Girisha KM. Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Clin Dysmorphol. 2024 Oct 1;33(4):152-159. doi: 10.1097/MCD.0000000000000500. Epub 2024 Mar 22.
- Background: PubMed 23756439Ciullini Mannurita S, Vignoli M, Bianchi L, Kondi A, Gerloni V, Breda L, Ten Cate R, Alessio M, Ravelli A, Falcini F, Gambineri E. CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort. Eur J Hum Genet. 2014 Feb;22(2):197-201. doi: 10.1038/ejhg.2013.123. Epub 2013 Jun 12.
- Background: PubMed 38955384Sathiyaseelan SL, Krishna K, Agarwal D, Oswal JS. Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. BMJ Case Rep. 2024 Jul 1;17(7):e260146. doi: 10.1136/bcr-2024-260146.
- Background: PubMed 29397575Yilmaz S, Uludag Alkaya D, Kasapcopur O, Barut K, Akdemir ES, Celen C, Youngblood MW, Yasuno K, Bilguvar K, Gunel M, Tuysuz B. Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. Mol Genet Genomic Med. 2018 Mar;6(2):230-248. doi: 10.1002/mgg3.364. Epub 2018 Feb 4.
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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.
10 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Camptodactyly and Arthropathy, run by Meyer Children's Hospital IRCCS at 10 sites in 3 countries.
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 3 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: looking for participants now, as of the sponsor's last update on 16 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 10 sites in Italy, Spain, Turkey (Türkiye). 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Teresa Giani, MD, PhD (+39 0555662924, teresa.giani@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence of CACP Syndrome (time frame: From enrollment to the next 10 years). The study lists 9 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07468461, which also lists 6 linked publications.
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 16 Mar 2026.