Rare Genetic DiseaseNCT05236595
Research for Individualized Therapeutics in Rare Genetic Disease
An observational study of Rare Genetic Disease and Undiagnosed Diseases, run by Mayo Clinic at 3 sites in United States.
Trial summary
The purpose of this research study is to identify individuals that have a rare genetic disease without an adequate therapeutic strategy that might be treatable with drug developed to target the disease-causing genetic alteration. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Rare Genetic Disease, Undiagnosed Diseases
- What is being tested?
- Individualized drug matching per genetic disease
- How many people
- 50 participants
- Where
- 3 sitesUnited States
- Study dates
- 24 Nov 2021to Nov 2026
- How long will I take part?
- 5 Years
- 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 who have been diagnosed with a rare genetic disorder for which adequate or curative treatment is not currently available.
Who may be able to join
- Has Mayo Clinic or other medical health system ID, or another unique identifier.
- Able to provide informed consent.
- Individual must have evidence of a genetic disorder as determined by a provider or genetic counselor with causative or likely causative genetic variants identified by molecular testing.
- Genetic variants must be hypothesized to be targetable using antisense oligonucleotide drugs (such as: knockdown gain of function alterations, increase protein production for reduced function alterations, or modulate mRNA splicing to correct abnormal splicing, promote normal splicing, or return reading frame to an out-of-frame transcript to restore function, etc.) based on current acceptable understanding of ASO mechanisms of action and tissue/organ targeting efficiency.
- Biological family member of an enrolled individual.
- Would be able to travel to a Mayo Clinic site for ongoing treatment should a therapeutic be developed.
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- Treatment at the individual's current disease state would likely provide benefit based on current clinical data and understanding of the progression of the disease.
- -Or-
- Biological family member of an enrolled individual
- Able to provide informed consent or has a LAR available to provide informed consent
Who cannot join
- Individuals who have situations that would limit compliance with the study requirements.
- Institutionalized (i.e. Federal Medical Prison).
Trial locations and contacts
3 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States3 sites
Mayo Clinic Florida
Jacksonville, Florida, 32224
Mayo Clinic Rochester
Minneota, Minnesota, 55905
Mayo Clinic in Arizona
Scottsdale, Arizona, 85259
About this study
The purpose of this research study is to identify individuals that have a rare genetic disease without an adequate therapeutic strategy that might be treatable with drug developed to target the disease-causing genetic alteration.
- Conditions
- Rare Genetic Disease, Undiagnosed Diseases
- Being tested
- Individualized drug matching per genetic disease
- Medical subject headings
- Undiagnosed Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Individualized drug matching per genetic diseaseOther
Patient phenotype and samples will be evaluated for individualized therapeutic drug development
| Study group | Role | What they receive |
|---|---|---|
| Rare genetic disease individualized drug development screening candidate | Patients with targetable disease-causing genetic alterations will be evaluated on a case by case basis. The research study will utilize biospecimens to determine if an individualized therapeutic may be developed as a possible treatment option. If an individualized therapeutic drug can be developed, a future IND FDA application (n=1) will be filed. Receives: Other: Individualized drug matching per genetic disease |
What is being measured
The primary outcome is the main question the study is designed to answer.
Enrollment of study participants
To recruit and enroll participants with a confirmed rare genetic disease whose genetic variants may be targetable by an ASO and/or other drug.
Measured: 5 years
Collection of biospecimens
Total number of biopecimens collected which may include blood samples, skin biopsy and fibroblast culture, organ biopsy specimens
Measured: 5 years
Partnered research with external entities
To engage in partnered research with external entities (foundations, academia, and drug companies) to facilitate the ASO and/or other drug development and testing.
Measured: 5 years
Future IND applications
To submit an IND application with the FDA following successful drug development and safety/toxicity testing outcomes.
Measured: 5 years
Determine natural history and clinical baseline
To determine the natural history and clinical baseline of patient's disease status. This will be used to determine efficacy when treated with experimental ASO and/or other drug.
Measured: 5 years
Determine individualized therapeutic efficacy
To determine clinical efficacy of treatment with experimental ASO and/or other drug.
Measured: 5 years
Publish findings
To publish and/or share findings to improve patient specific ASO and/or other drug development and increase the number of therapeutic options for individuals with rare genetic disease.
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Feb 2022
- Study start24 Nov 2021
- Primary completionNov 2026 (estimated)
- Study completionNov 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare Genetic DiseaseStudies of the same condition, open and under way.
- More trials run by Mayo ClinicThe 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
- Prospective
- Enrolment
- 50 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Margot A. Cousin, Mayo Clinic
- Investigators
- Margot A Cousin, Ph.D., Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05236595
- Sponsor's protocol ID
- 21-006562
- Status last verified
- Jan 2026
- First submitted
- 27 Dec 2021
- Last updated
- 20 Jan 2026
- 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 20 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Research for Individualized Therapeutics in Rare Genetic Disease
- ClinicalTrials.gov ID
- NCT05236595
- Acronym / sponsor ID
- 21-006562
- Conditions
- Rare Genetic Disease, Undiagnosed Diseases
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Study start
- 24 Nov 2021 (actual)
- Primary completion
- Nov 2026 (estimated)
- Study completion
- Nov 2026 (estimated)
- First posted
- 11 Feb 2022 (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 purpose of this research study is to identify individuals that have a rare genetic disease without an adequate therapeutic strategy that might be treatable with drug developed to target the disease-causing genetic alteration.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Rare genetic disease individualized drug development screening candidate | – | Other: Individualized drug matching per genetic diseasePatients with targetable disease-causing genetic alterations will be evaluated on a case by case basis. The research study will utilize biospecimens to determine if an individualized therapeutic may be developed as a possible treatment option. If an individualized therapeutic drug can be developed, a future IND FDA application (n=1) will be filed. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals who have been diagnosed with a rare genetic disorder for which adequate or curative treatment is not currently available.
Key inclusion criteria (10 listed)
- Has Mayo Clinic or other medical health system ID, or another unique identifier.
- Able to provide informed consent.
- Individual must have evidence of a genetic disorder as determined by a provider or genetic counselor with causative or likely causative genetic variants identified by molecular testing.
- Genetic variants must be hypothesized to be targetable using antisense oligonucleotide drugs (such as: knockdown gain of function alterations, increase protein production for reduced function alterations, or modulate mRNA splicing to correct abnormal splicing, promote normal splicing, or return reading frame to an out-of-frame transcript to restore function, etc.) based on current acceptable understanding of ASO mechanisms of action and tissue/organ targeting efficiency.
- Biological family member of an enrolled individual.
Key exclusion criteria (2 listed)
- Individuals who have situations that would limit compliance with the study requirements.
- Institutionalized (i.e. Federal Medical Prison).
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 |
|---|---|---|
| Individualized drug matching per genetic diseasePatient phenotype and samples will be evaluated for individualized therapeutic drug development | Other | Rare genetic disease individualized drug development screening candidate |
Primary outcome
Enrollment of study participants
Time frame: 5 years
To recruit and enroll participants with a confirmed rare genetic disease whose genetic variants may be targetable by an ASO and/or other drug.
Collection of biospecimens
Time frame: 5 years
Total number of biopecimens collected which may include blood samples, skin biopsy and fibroblast culture, organ biopsy specimens
Partnered research with external entities
Time frame: 5 years
To engage in partnered research with external entities (foundations, academia, and drug companies) to facilitate the ASO and/or other drug development and testing.
Future IND applications
Time frame: 5 years
To submit an IND application with the FDA following successful drug development and safety/toxicity testing outcomes.
Determine natural history and clinical baseline
Time frame: 5 years
To determine the natural history and clinical baseline of patient's disease status. This will be used to determine efficacy when treated with experimental ASO and/or other drug.
Determine individualized therapeutic efficacy
Time frame: 5 years
To determine clinical efficacy of treatment with experimental ASO and/or other drug.
Publish findings
Time frame: 5 years
To publish and/or share findings to improve patient specific ASO and/or other drug development and increase the number of therapeutic options for individuals with rare genetic disease.
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 20 Jan 2026.
- Mayo Clinic Clinical TrialsLink provided by the sponsor.
- Individual participant dataSharing planned: No
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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.
Margot A Cousin, Ph.D. principal investigator
Mayo Clinic
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rare Genetic Disease and Undiagnosed Diseases, run by Mayo Clinic at 3 sites in United States.
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 10 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: enrolling by invitation, as of the sponsor's last update on 20 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States. 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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Enrollment of study participants (time frame: 5 years). The study lists 7 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 20 Jan 2026.