Clinical trial NCT05236595: Research for Individualized Therapeutics in Rare Genetic Disease
Official title: Research for Individualized Therapeutics in Rare Genetic Disease
Study type: OBSERVATIONAL
Overall status: ENROLLING_BY_INVITATION
Conditions: Rare Genetic Disease
Undiagnosed Diseases
Lead sponsor: Mayo Clinic
Sponsor class: OTHER
First posted: 2022-02-11
Enrollment: 50
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals who have been diagnosed with a rare genetic disorder for which adequate or curative treatment is not currently available.

Brief 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.


Eligibility criteria: Inclusion Criteria:

* 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.
* 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

Exclusion Criteria

* Individuals who have situations that would limit compliance with the study requirements.
* Institutionalized (i.e. Federal Medical Prison).

Primary outcomes:
measure: Enrollment of study participants
timeFrame: 5 years
measure: Collection of biospecimens
timeFrame: 5 years
measure: Partnered research with external entities
timeFrame: 5 years
measure: Future IND applications
timeFrame: 5 years
measure: Determine natural history and clinical baseline
timeFrame: 5 years
measure: Determine individualized therapeutic efficacy
timeFrame: 5 years
measure: Publish findings
timeFrame: 5 years
Secondary outcomes:
Other outcomes:
Locations:
city: Scottsdale
country: United States
facility: Mayo Clinic in Arizona
state: Arizona
city: Jacksonville
country: United States
facility: Mayo Clinic Florida
state: Florida
city: Minnesota
country: United States
facility: Mayo Clinic Rochester
state: Minnesota
Study officials:
affiliation: Mayo Clinic
name: Brendan C Lanpher, MD
role: PRINCIPAL_INVESTIGATOR
References: