Acute Intermittent Porphyria (AIP)NCT05502133
Identification of Acute Intermittent Porphyria Modifying Genes
An observational study of Acute Intermittent Porphyria (AIP), run by Icahn School of Medicine at Mount Sinai at 1 site in United States.
Trial summary
This study proposes to identify the predisposing/protective modifying genes that underlie the acute attacks in symptomatic patients with Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis. Read more about this study
- Who is it for?
- Ages 12 years and older
- Conditions the study is for
- Acute Intermittent Porphyria (AIP)
- How many people
- 150 participants
- Where
- 1 siteUnited States
- Study dates
- 23 Sep 2022to Jun 2029
- 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 12 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: A member of an AIP family who possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks). Parents with no known HMBS mutations or heterozygote with familial mutation or a first, second or third degree relative of the above.
Who may be able to join
- Willing and able to give informed consent
- 12 years of age or older
- Willingness to provide blood/saliva and urine samples, and clinical information
- A member of an AIP family, defined as (must meet one of the following):
- proband: possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks in the opinion of the investigator)
- Parents (no known HMBS mutations or heterozygote with familial mutation)
- First, second, or third degree relative of (a) or (b)
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Icahn School of Medicine at Mount Sinai
New York, New York, 10029
Chloe Cheung, 646-369-2045, chloeyihang.cheung@mssm.edu
Robert J Desnick
About this study
This study proposes to identify the predisposing/protective modifying genes that underlie the acute attacks in symptomatic patients with Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis.
- Conditions
- Acute Intermittent Porphyria (AIP)
- Medical subject headings
- Porphyria, Acute Intermittent
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Acute Intermittent Porphyria (AIP) | Symptomatic patients with Acute Intermittent Porphyria (AIP) A member of an AIP family who possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks). Parents with no known HMBS mutations or heterozygote with familial mutation or a first, second or third degree relative of the above. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Odds ratios (OR) of the effects of identified modifier genes/variants
There are no primary and secondary endpoints. This is an exploratory genetic study.
Exploratory Endpoints: Odds ratios (OR) of the effects of identified modifier genes/variants.
(If putative predisposing or protective gene variants are identified)
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Aug 2022
- Study start23 Sep 2022
- Primary completionJun 2029 (estimated)
- Study completionJun 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Acute Intermittent Porphyria (AIP)Studies of the same condition, open and under way.
- More trials run by Icahn School of Medicine at Mount SinaiThe 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
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Icahn School of Medicine at Mount Sinai
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Robert Desnick, Icahn School of Medicine at Mount Sinai
- Investigators
- Robert J Desnick, Ph.D, MD, Principal investigator, Icahn School of Medicine at Mount Sinai
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05502133
- Sponsor's protocol ID
- GCO 18-1800
- Status last verified
- Sep 2026
- First submitted
- 4 Aug 2022
- Last updated
- 10 Sep 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Not feasible.
Study at a glance
From the registry record, last updated by the sponsor on 10 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Acute Intermittent Porphyria Modifying Genes
- ClinicalTrials.gov ID
- NCT05502133
- Acronym / sponsor ID
- GCO 18-1800
- Conditions
- Acute Intermittent Porphyria (AIP)
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Icahn School of Medicine at Mount SinaiUniversity, hospital or other
- Study start
- 23 Sep 2022 (actual)
- Primary completion
- Jun 2029 (estimated)
- Study completion
- Jun 2029 (estimated)
- First posted
- 16 Aug 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.
This study proposes to identify the predisposing/protective modifying genes that underlie the acute attacks in symptomatic patients with Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Acute Intermittent Porphyria (AIP) | – | –Symptomatic patients with Acute Intermittent Porphyria (AIP) A member of an AIP family who possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks). Parents with no known HMBS mutations or heterozygote with familial mutation or a first, second or third degree relative of the above. |
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- A member of an AIP family who possesses an AIP pathogenic mutation and is/has been symptomatic (experienced acute attacks). Parents with no known HMBS mutations or heterozygote with familial mutation or a first, second or third degree relative of the above.
Key inclusion criteria (7 listed)
- Willing and able to give informed consent
- 12 years of age or older
- Willingness to provide blood/saliva and urine samples, and clinical information
- A member of an AIP family, defined as (must meet one of the following):
Key exclusion criteria (0 listed)
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
Odds ratios (OR) of the effects of identified modifier genes/variants
Time frame: Day 1
There are no primary and secondary endpoints. This is an exploratory genetic study. Exploratory Endpoints: Odds ratios (OR) of the effects of identified modifier genes/variants. (If putative predisposing or protective gene variants are identified)
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 10 Sep 2026.
- Individual participant dataSharing planned: No. Not feasible.
Related trials for Acute Intermittent Porphyria (AIP)
RecruitingObservational study
Longitudinal Study of the Porphyrias
Acute Porphyrias, Cutaneous Porphyrias
Active, not recruitingObservational study
Acute Porphyria Biomarkers for Disease Activity
Acute Intermittent Porphyria, Hereditary Coproporphyria
Recruiting
Clinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment
Porphyria, Acute Intermittent
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.
Robert J Desnick, Ph.D, MD principal investigator
Icahn School of Medicine at Mount Sinai
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 Acute Intermittent Porphyria (AIP), run by Icahn School of Medicine at Mount Sinai at 1 site 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 7 inclusion and 0 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 10 Sep 2026. 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 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?
Contact Chloe Cheung (646-369-2045, chloeyihang.cheung@mssm.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Odds ratios (OR) of the effects of identified modifier genes/variants (time frame: Day 1). 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 10 Sep 2026.