Genetic Skeletal DiseasesSKDLANDNCT05876416
Decoding the Genetic Landscape of Skeletal Diseases
An observational study of Genetic Skeletal Diseases and Skeletal Dysplasia, run by Karolinska Institutet at 1 site in Sweden.
Trial summary
This 5-year project aims to (1) search for genetic causes for yet unsolved congenital skeletal disorders (GSDs); (2) study consequences of the newly identified pathogenic variants in cells and in transgenic mice, (3) summarize data on natural course and complications for different GSD groups. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Genetic Skeletal Diseases, Skeletal Dysplasia, Molecular Causes
- How many people
- 450 participants
- Where
- 1 siteSweden
- Study dates
- 1 Jan 2015to 31 Dec 2026
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Individuals of any age with congenital skeletal diseases and their healthy relatives
Who may be able to join
- Clinically suspected skeletal dysplasia based on previous investigations
- Abnormal height
- Radiographic abnormalities of the skeleton in addition to other syndromic features
- Healthy relatives of the affected study participants
Who cannot join
- No radiographic data available from clinical investigations
- Suspected environmental or multifactorial causes
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Hillevi Lindelöf, MD contact
Sweden1 site, 1 recruiting
- Recruiting
Karolinska University Hospital
Stockholm, 17176
Giedre Grigelioniene, MD, PhD, +46706287697, Giedre.Grigelioniene@ki.se
Hillevi Lindelöf, MD, Hillevi.Lindelof@ki.se
About this study
This 5-year project aims to (1) search for genetic causes for yet unsolved congenital skeletal disorders (GSDs); (2) study consequences of the newly identified pathogenic variants in cells and in transgenic mice, (3) summarize data on natural course and complications for different GSD groups. For patients with unsolved GSD, the investigators search for molecular causes of GSDs using whole genome sequencing (WGS) and total ribonucleic acid (RNA) sequencing. Candidate gene variants are selected using genome or transcriptome sequencing data, clinical findings and screening of omics databases. Causality of the new variants is studied in cells and in transgenic mice models. Molecular and clinical findings are summarized for different GSD groups.
Read the detailed description
Genetic skeletal disorders (GSDs) are a large group of rare diseases caused by abnormalities in genes regulating skeletal development. This 5-year project aims to (1) search for genetic causes for yet unsolved congenital skeletal disorders; (2) study consequences of the newly identified pathogenic variants in cells and in transgenic mice, (3) summarize data on natural course and complications for different GSD groups. The project is a collaboration between the Dept of Clinical Genetics, Karolinska University Hospital, Lab of Clinical Genetics and Lab of Bone and Cartilage Physiology, Karolinska Institutet and Sahlgrenska Academy. In a well-characterized group of 300 GSD participants whose DNA samples were analyzed using whole genome sequencing (WGS), there are 120 study participants with unsolved diagnoses. For those participants, we search for molecular causes of GSDs using WGS and total RNA sequencing. Candidate gene variants are selected using genome or transcriptome sequencing data, clinical findings and screening of omics databases. Causality of the new variants is studied in cells and in transgenic mice models. Molecular and clinical findings are summarized for different GSD groups. Our results improve diagnostics for GSDs, advance knowledge on pathogenesis and help establishing new individual follow-up and treatment strategies for patients with GSDs. This project increases understanding of skeletal pathophysiology and will contribute to the development of novel treatment methods for skeletal diseases.
- Medical subject headings
- Mucopolysaccharidosis IV
What is being measured
The primary outcome is the main question the study is designed to answer.
New gene discoveries for genetic skeletal disorders (GSDs)
2-3 new disease causes and disease entities identified and reported per year for GSDs.
Measured: 2023-2028
Improved knowledge regarding natural cause of rare GSDs
1-2 GSDs reported as small patient groups with the same condition and clinical characteristics/course.
Measured: 2023-2028
Secondary outcomes (2)
Disease (GSD) associated traits and complications
The observations include internal malformations, metabolic, biochemical and growth parameters, and secondary complications.
Measured: 2023-2028
Information on disease causing variants in GSD
During the study we identify several novel disease causing variants in known GSD genes and report them to databases.
Measured: 2023-2028
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 May 2023
- Study start1 Jan 2015
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic Skeletal DiseasesStudies of the same condition, open and under way.
- More trials run by Karolinska InstitutetThe 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
- 450 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Karolinska Institutet
- Sponsor type
- University, hospital or other
- Collaborators
- Karolinska University Hospital, Göteborg University
- Responsible party
- Principal investigator, Giedre Grigelioniene, Karolinska Institutet
- Investigators
- Giedre Grigelioniene, MD,, Principal investigator, Dept Molecular Medicine and Surgery, KI
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05876416
- Sponsor's protocol ID
- 910715
- Other IDs
- 2022-02647
- Acronym
- SKDLAND
- Status last verified
- May 2023
- First submitted
- 16 Apr 2023
- Last updated
- 25 May 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Due to GDPR we are not able to share genomic data, but in case of joined reports anonymized clinical data such as growth parameters or information on malformations will be shared.
Study at a glance
From the registry record, last updated by the sponsor on 25 May 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Decoding the Genetic Landscape of Skeletal Diseases
- ClinicalTrials.gov ID
- NCT05876416
- Acronym / sponsor ID
- SKDLAND / 910715
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 450 participants (estimated)
- Lead sponsor
- Karolinska InstitutetUniversity, hospital or other
- Collaborators
- Karolinska University Hospital, Göteborg University
- Study start
- 1 Jan 2015 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 25 May 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.
This 5-year project aims to (1) search for genetic causes for yet unsolved congenital skeletal disorders (GSDs); (2) study consequences of the newly identified pathogenic variants in cells and in transgenic mice, (3) summarize data on natural course and complications for different GSD groups. For patients with unsolved GSD, the investigators search for molecular causes of GSDs using whole genome sequencing (WGS) and total ribonucleic acid (RNA) sequencing. Candidate gene variants are selected using genome or transcriptome sequencing data, clinical findings and screening of omics databases. Causality of the new variants is studied in cells and in transgenic mice models. Molecular and clinical findings are summarized for different GSD groups.
Detailed description
Genetic skeletal disorders (GSDs) are a large group of rare diseases caused by abnormalities in genes regulating skeletal development. This 5-year project aims to (1) search for genetic causes for yet unsolved congenital skeletal disorders; (2) study consequences of the newly identified pathogenic variants in cells and in transgenic mice, (3) summarize data on natural course and complications for different GSD groups. The project is a collaboration between the Dept of Clinical Genetics, Karolinska University Hospital, Lab of Clinical Genetics and Lab of Bone and Cartilage Physiology, Karolinska Institutet and Sahlgrenska Academy. In a well-characterized group of 300 GSD participants whose DNA samples were analyzed using whole genome sequencing (WGS), there are 120 study participants with unsolved diagnoses. For those participants, we search for molecular causes of GSDs using WGS and total RNA sequencing. Candidate gene variants are selected using genome or transcriptome sequencing data, clinical findings and screening of omics databases. Causality of the new variants is studied in cells and in transgenic mice models. Molecular and clinical findings are summarized for different GSD groups. Our results improve diagnostics for GSDs, advance knowledge on pathogenesis and help establishing new individual follow-up and treatment strategies for patients with GSDs. This project increases understanding of skeletal pathophysiology and will contribute to the development of novel treatment methods for skeletal diseases.
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals of any age with congenital skeletal diseases and their healthy relatives
Key inclusion criteria (4 listed)
- Clinically suspected skeletal dysplasia based on previous investigations
- Abnormal height
- Radiographic abnormalities of the skeleton in addition to other syndromic features
- Healthy relatives of the affected study participants
Key exclusion criteria (2 listed)
- No radiographic data available from clinical investigations
- Suspected environmental or multifactorial causes
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
New gene discoveries for genetic skeletal disorders (GSDs)
Time frame: 2023-2028
2-3 new disease causes and disease entities identified and reported per year for GSDs.
Improved knowledge regarding natural cause of rare GSDs
Time frame: 2023-2028
1-2 GSDs reported as small patient groups with the same condition and clinical characteristics/course.
2 secondary outcomes
Disease (GSD) associated traits and complications
Time frame: 2023-2028
Information on disease causing variants in GSD
Time frame: 2023-2028
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 25 May 2023.
- Individual participant dataSharing planned: No. Due to GDPR we are not able to share genomic data, but in case of joined reports anonymized clinical data such as growth parameters or information on malformations will be shared.
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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.
Hillevi Lindelöf, MD contact
Giedre Grigelioniene, MD, principal investigator
Dept Molecular Medicine and Surgery, KI
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 Genetic Skeletal Diseases and Skeletal Dysplasia, run by Karolinska Institutet at 1 site in Sweden.
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 2 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 25 May 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 Sweden. 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 Giedre Grigelioniene, MD, PhD (+46706287697, giedre.grigelioniene@ki.se), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
New gene discoveries for genetic skeletal disorders (GSDs) (time frame: 2023-2028). The study lists 2 primary outcomes in all. 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 25 May 2023.