Homocystinuria

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Who is this for?
Show terms as
3FDA treatments6Active trials22Specialists8Treatment centers2Financial resources

Where are you in your journey?

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

Homocystinuria is treated with 3 medications in our database, including Cystadane, EnBrace HR, Betaine. 2 of these have manufacturer assistance programs available to help reduce out-of-pocket costs. Medications are manufactured by Recordati, Jaymac. Patients and caregivers can find copay cards, patient assistance programs, and travel grants for Homocystinuria treatment below.

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

NORD ↗

FDA & Trial Timeline

8 events
Jan 2025Health Related Quality of Life (HrQoL) in Classical Homocystinuria (CBS Deficiency)

University Children's Hospital, Zurich

TrialRECRUITING
Dec 2024The Effect of Dietary Management and Cysteine Supplementation on Growth Parameters and Biochemical Control for Pediatric Qatari Patients Affected with Classical B6 Non-responsive Homocystinuria.

Hamad Medical Corporation — NA

TrialNOT YET RECRUITING
Aug 2024Proof of Concept Creatine Supplementation for Homocystinuria Study

University of British Columbia — NA

TrialACTIVE NOT RECRUITING
Apr 2024A Phase 3 Long-term Extension Study to Assess the Long-term Safety and Efficacy of Pegtibatinase Treatment in Participants ≥5 to ≤65 Years of Age With Classical Homocystinuria (HCU) (ENSEMBLE)

Travere Therapeutics, Inc. — PHASE3

TrialENROLLING BY INVITATION
Dec 2023A Study to Investigate Efficacy and Safety of Pegtibatinase Compared With Placebo in Participants ≥12 to ≤65 Years of Age With Classical Homocystinuria (HCU) Due to Cystathionine Beta Synthase Deficiency Receiving Standard of Care Treatment

Travere Therapeutics, Inc. — PHASE3

TrialACTIVE NOT RECRUITING
Jan 2019Pegtibatinase As an Enzyme Therapy for Patients with Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (COMPOSE)

Travere Therapeutics, Inc. — PHASE1, PHASE2

TrialACTIVE NOT RECRUITING
Jan 2017Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)

Travere Therapeutics, Inc.

TrialRECRUITING
Oct 1996Cystadane: FDA approved

Treatment of homocystinuria to decrease elevated homocysteine blood levels.

FDAcompleted

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

Treatments

3 available

Betaine Anhydrous

BETAINE ANHYDROUS· Eton Pharmaceuticals, Inc.

indicated for the treatment of homocystinuria to decrease elevated homocysteine blood concentrations

Cystadane

BETAINE· Recordati Rare DiseasesOrphan Drug

Treatment of homocystinuria to decrease elevated homocysteine blood levels.

EnBrace HR

LEVOMEFOLATE MAGNESIUM, LEUCOVORIN, FOLIC ACID, FERROUS CYSTEINE GLYCINATE, MAGNESIUM ASCORBATE, ZINC ASCORBATE, COCARBOXYLASE, FLAVIN ADENINE DINUCLEOTIDE, NADH, PYRIDOXAL PHOSPHATE ANHYDROUS, COBAMA· Jaymac

Detailed copay and financial assistance information is not publicly available for this medication at this time. Please consult your pharmacist or the manufacturer's official patient support program fo

Clinical Trials

6 recruitingView all trials with filters →
Phase 32 trials
A Study to Investigate Efficacy and Safety of Pegtibatinase Compared With Placebo in Participants ≥12 to ≤65 Years of Age With Classical Homocystinuria (HCU) Due to Cystathionine Beta Synthase Deficiency Receiving Standard of Care Treatment
Phase 3
Active
PI: Michael Imperiale, MD (Travere Therapeutics, Inc.) · Sites: Morrisville, North Carolina · Age: 1265 yrs
A Phase 3 Long-term Extension Study to Assess the Long-term Safety and Efficacy of Pegtibatinase Treatment in Participants ≥5 to ≤65 Years of Age With Classical Homocystinuria (HCU) (ENSEMBLE)
Phase 3
Enrolling by Invitation
PI: Michael Imperiale, MD (Travere Therapeutics, Inc.) · Sites: Portland, Maine; New York, New York +2 more · Age: 565 yrs
N/A1 trial
Proof of Concept Creatine Supplementation for Homocystinuria Study
N/A
Active
PI: Rajavel Elango, PhD (University of British Columbia) · Sites: Vancouver, British Columbia · Age: 1940 yrs
Other2 trials
Health Related Quality of Life (HrQoL) in Classical Homocystinuria (CBS Deficiency)
Actively Recruiting
· Sites: Zurich · Age: 899 yrs
Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)
Actively Recruiting
PI: Michael Imperiale, MD (Travere Therapeutics, Inc.) · Sites: Culver City, California; Aurora, Colorado +9 more · Age: 165 yrs

Specialists

22 foundView all specialists →
RP
Rajavel Elango, PhD
Vancouver, British Columbia
Specialist

Rare Disease Specialist

PI on 5 active trials
AM
Anita MacDonald
Birmingham
Specialist

Rare Disease Specialist

PI on 10 active trials
CD
Carlo Dionisi-Vici
Specialist
PI on 1 active trial
BG
Brian M GILFIX
Specialist
PI on 1 active trial
VK
Viktor Kožich
Specialist
3 Homocystinuria publications
RB
Ruma Banerjee
Specialist
3 Homocystinuria publications
LA
Loredana Arhip
Specialist
2 Homocystinuria publications
CS
Clara Serrano-Moreno
Specialist
2 Homocystinuria publications
DR
Danijela Petković Ramadža
Specialist
2 Homocystinuria publications
ST
Suresh C Tyagi
Specialist
2 Homocystinuria publications
SD
Si Ding
STAFFORD, VA
Specialist
2 Homocystinuria publications
LL
Lili Liang
NEW YORK, NY
Specialist
2 Homocystinuria publications
HZ
Huiwen Zhang
LAS VEGAS, NV
Specialist
2 Homocystinuria publications
TC
Ting Chen
Specialist
2 Homocystinuria publications
XG
Xuefan Gu
Specialist
2 Homocystinuria publications
LH
Lianshu Han
Specialist
2 Homocystinuria publications
MB
Matthias R Baumgartner
Specialist
2 Homocystinuria publications
HB
Henk J Blom
Specialist
2 Homocystinuria publications
CC
Cortney Caudill
PRESTONSBURG, KY
Specialist
PI on 4 active trials
MI
Michael Imperiale
Specialist
PI on 4 active trials
XZ
Xia Zhan
BROOKLYN, NY
Specialist
3 Homocystinuria publications
JV
Johan VanHove
Specialist
PI on 1 active trial

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

Financial Resources

1 resources
Cystadane(BETAINE)Recordati Rare Diseases

1 travel grant are also available for Homocystinuria patients — see Travel Grants below ↓

Travel Grants

1 grants

Travere Therapeutics Patient Support Programs

Apply ↗

Community

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Latest news about Homocystinuria

Disease timeline:

New recruiting trial: Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)

A new clinical trial is recruiting patients for Homocystinuria

New recruiting trial: Health Related Quality of Life (HrQoL) in Classical Homocystinuria (CBS Deficiency)

A new clinical trial is recruiting patients for Homocystinuria

New trial: Proof of Concept Creatine Supplementation for Homocystinuria Study

Phase NA trial recruiting. Creatine

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 Homocystinuria

What is Homocystinuria?

Homocystinuria is treated with 3 medications in our database, including Cystadane, EnBrace HR, Betaine. 2 of these have manufacturer assistance programs available to help reduce out-of-pocket costs. Medications are manufactured by Recordati, Jaymac. Patients and caregivers can find copay cards, patient assistance programs, and travel grants for Homocystinuria treatment below.

How is Homocystinuria inherited?

Homocystinuria follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Are there clinical trials for Homocystinuria?

Yes — 6 recruiting clinical trials are currently listed for Homocystinuria on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Homocystinuria?

22 specialists and care centers treating Homocystinuria are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.

What treatment and support options exist for Homocystinuria?

3 FDA-approved treatments and 2 patient support programs are currently tracked on UniteRare for Homocystinuria. See the treatments and support programs sections for copay assistance, eligibility, and contact details.