Make a Difference!

HCU News & Events

Registration is now open!

SAVETHEDATERelease

Cobalamin and Severe MTHFR Webinar

Join us for a FREE online webinar featuring Dr. James Weisfeld-Adams. Dr. Weisfeld-Adams was a member of the E-HOD Guidelines Committee that led to the Guidelines for Diagnosis and Management of the Cobalamin-Related Remethylation Disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR Deficiency

Enzyme replacement therapy ameliorates multiple symptoms of murine homocystinuria

Molecular Therapy - Published online: December 19, 2017

ERYTECH Press Release

ERYTECH to Present Pre-Clinical Data at the 13th International Congress of Inborn Errors of Metabolism

September 01, 2017 02:00 AM Eastern Daylight Time
LYON, France--(BUSINESS WIRE)--Regulatory News:

Natural History Study of CBS Deficiency

Orphan Technologies Ltd is looking for male and female patients between, the ages of 5 to 65 years who have been clinically diagnosed with Homocystinuria

Contact: Ann Kuan (781) 966-3832

Locations:

United States, Georgia
Emory University, School of Medicine Department of Human Genetics
Decatur, Georgia, United States 30033

United States, Massachusetts
Boston Children's Hospital
Boston, Massachusetts, United States 02115

United States, Pennsylvania
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States 19104

More News & Events

For more news and events, please visit our News & Events page

Ways to Get Involved!

Medical Nutrition Equity Act

d22d899d-fd7f-4e1b-b614-701d8d6a5248

Passage of the Medical Nutrition Equity Act would require all private and public insurance plans to cover formula and low protein modified foods for children and adults.

Click here to Take Action Now!

Helping Hands for HCU:

A collaborative effort of patients, clinics &

HCU Network America

Helping hands for HCU

We are asking for patients to help us connect with their metabolic team. In return, we will provide them resources to help better your care and the care of other patients.

If you are willing to make an introduction for us with a member of your metabolic care team contact us at: HCUNetworkAmerica@gmail.com

 

BioCom Consulting Interviews

big-bday-multi_language3

Biocom Consulting is looking to interview individuals diagnosed with classical homocystinuria (CBS deficiency) in order to better understand the impact of the disease on patient quality of life. This information will be used to inform future studies in the area of classical homocystinuria.

In order to participate, individuals must meet the following criteria:
Be diagnosed with classical homocystinuria (HCU)
Fit one of the following categories:
-Caregiver/ parent of a child with HCU
-Young adult (18 – 30 yrs old) with HCU
-Adult not diagnosed through newborn screening
-Be willing to sign a consent form indicating the confidential nature of the research and that they are a willing participant.

The research will be confidential and no personal information will be shared.
If eligible, the research would require a 1 hour phone call at an agreed upon time.
If interested in participating, please contact Maura at maura@biocomconsulting.

Our Mission

The mission of HCU Network America is to help patients with HCU and related disorders manage their disease and to find a cure

Our Goals

To support research to improve diagnosis and treatment including a cure for the disease

To provide information and resources to better manage the disease

  • HCU treatment and dietary approaches
  • General disease management
  • Increased access for treatments and supplements
  • Research findings and opportunities for clinical trials

To create connections across the community and facilitate sharing of information and best practices through in-person and virtual events and discussions

To assure all patients are diagnosed as early and efficiently as possible to enable access to care and avoid complications

Donate

Help us reach our goals and fulfill key patient needs by making a donation today!