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
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.