Acute intermittent porphyria

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ORPHA:79276OMIM:176000E80.2
Who is this for?
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2FDA treatments1Active trials18Specialists8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Acute Intermittent Porphyria is treated with 1 medication in our database, including Panhematin. Medications are manufactured by Recordati. Patients and caregivers can find copay cards, patient assistance programs, and travel grants for Acute Intermittent Porphyria treatment below.

Clinical phenotype terms— hover any for plain English:

Elevated urinary delta-aminolevulinic acidHP:0003163PorphyrinuriaHP:0010473Increased urinary porphobilinogenHP:0012217Limb painHP:0009763RestlessnessHP:0000711
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

2 events
Sep 2022Identification of Acute Intermittent Porphyria Modifying Genes

Icahn School of Medicine at Mount Sinai

TrialRECRUITING
Apr 2004

Apokyn: FDA approved

For the acute, intermittent treatment of hypomobility, "off" episodes ("end-of-dose-wearing-off" and unpredictable :on/off" episodes) associated with advanced Parkinson's disease

FDAcompleted

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

2 available

Apokyn

Apomorphine HCl· MDD US Operations, LLCOrphan Drug

For the acute, intermittent treatment of hypomobility, "off" episodes ("end-of-dose-wearing-off" and unpredictable :on/off" episodes) associated with advanced Parkinson's disease

Panhematin

hemin· Recordati

* Patient Copay Amount: Not Publicly Available * Maximum Annual Benefit Limit: Not Publicly Available * Core Eligibility Restrictions: Not Publicly Available * RxBIN, PCN, and Group numbers: Not Publi

Clinical Trials

1 recruitingView all trials with filters →
Other1 trial
Identification of Acute Intermittent Porphyria Modifying Genes
Actively Recruiting
PI: Robert J Desnick, Ph.D, MD (Icahn School of Medicine at Mount Sinai) · Sites: New York, New York · Age: 1299 yrs

Specialists

18 foundView all specialists →
BK
Bård Ove Karlsen
Specialist
2 Acute intermittent porphyria publications
CS
Caroline Schmitt
Specialist
3 Acute intermittent porphyria publications
MM
Montserrat Morales-Conejo
Specialist
2 Acute intermittent porphyria publications
RS
Rafael Enríquez de Salamanca
Specialist
2 Acute intermittent porphyria publications
ES
Elin Storjord
Specialist
2 Acute intermittent porphyria publications
AD
Amy K Dickey
Specialist
3 Acute intermittent porphyria publications
JL
Jia-Jia Lei
Specialist
3 Acute intermittent porphyria publications
SL
Shuang Li
Specialist
3 Acute intermittent porphyria publications
BD
Bai-Xue Dong
Specialist
3 Acute intermittent porphyria publications
JY
Jing Yang
Specialist
3 Acute intermittent porphyria publications
YR
Yi Ren
Specialist
3 Acute intermittent porphyria publications
LG
Laurent Gouya
Specialist
3 Acute intermittent porphyria publications
HK
Hung-Chou Kuo
Specialist
3 Acute intermittent porphyria publications
CL
Chia-Ni Lin
Specialist
3 Acute intermittent porphyria publications
AF
Antonio Fontanellas
Specialist
2 Acute intermittent porphyria publications
US
Ulrich Stölzel
Specialist
3 Acute intermittent porphyria publications
TS
Thomas Stauch
EASTON, MD
Specialist
2 Acute intermittent porphyria publications

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Acute intermittent porphyria.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Acute intermittent porphyria

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Acute intermittent porphyria

What is Acute intermittent porphyria?

Acute Intermittent Porphyria is treated with 1 medication in our database, including Panhematin. Medications are manufactured by Recordati. Patients and caregivers can find copay cards, patient assistance programs, and travel grants for Acute Intermittent Porphyria treatment below.

How is Acute intermittent porphyria inherited?

Acute intermittent porphyria follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Acute intermittent porphyria typically begin?

Typical onset of Acute intermittent porphyria is adult. Age of onset can vary across affected individuals.

Are there clinical trials for Acute intermittent porphyria?

Yes — 1 recruiting clinical trial is currently listed for Acute intermittent porphyria on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Acute intermittent porphyria?

18 specialists and care centers treating Acute intermittent porphyria are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.

What treatment and support options exist for Acute intermittent porphyria?

1 FDA-approved treatment and 1 patient support program are currently tracked on UniteRare for Acute intermittent porphyria. See the treatments and support programs sections for copay assistance, eligibility, and contact details.